ERN GUARD-HEART

Rare cardiac diseases can present throughout a person’s life and are mostly genetic. These conditions are characterised by a wide range of symptoms and signs that vary not only from disease to disease but also from patient to patient. All these cardiac diseases carry a unique susceptibility to sudden death at a young age, usually occurring in otherwise healthy people.

The GUARD-HEART network has identified the following thematic areas: familial electrical diseases, familial cardiomyopathies, congenital heart defects and other rare cardiac diseases. These themes are based on the clinical guidelines of the European Society of Cardiology (ESC), the International Classification of Diseases (ICD10) and ORPHANET.

ERN GUARD-HEART is seeking to strengthen coordination of expertise and resources to facilitate pooling of multidisciplinary knowledge which will be mapped and disseminated to the lay public.

Healthcare services will be provided through a shared eHealth platform. This will ensure wider access to expertise for patients and healthcare professionals around Europe. By fostering closer cooperation between experts, new scientific knowledge will be acquired and shared to support the development of new diagnostic and therapeutic procedures, and to identify new rare cardiac diseases.

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TitleAuthorsDateKeywordsIssue name
Amyloid Cardiomyopathies: Clinical, Diagnostic, and Therapeutic Aspects.Limongelli G, Monda E, Bossone E, Emdin M, Merlo M2024-07-01Heart failure clinics
Specific Therapy in Transthyretin Amyloid Cardiomyopathy: Future Perspectives Beyond Tafamidis.Saro R, Allegro V, Merlo M, Dore F, Sinagra G, Porcari A2024-07-01Amyloidogenic cascade, Antibody-mediated amyloid removal, Antisense oligonucleotide (ASO), Disease-modifying treatments, Small interfering RNAs (siRNA), Transthyretin amyloidosisHeart failure clinics
Tafamidis in the Treatment of ATTR-related Cardiomyopathy: Indications and Grey Zones.Capovilla TM, Lalario A, Rossi M, Porcari A, Aimo A, Limongelli G, Emdin M, Merlo M, Sinagra G2024-07-01ATTR, Amyloidoses, Cardiomyopathy, Tafamidis, Transthyretin, TreatmentHeart failure clinics
Genotype-Phenotype Correlations in ATTR Amyloidosis: A Clinical Update.Monda E, Cirillo C, Verrillo F, Palmiero G, Falco L, Aimo A, Emdin M, Merlo M, Limongelli G2024-07-01Amyloidosis, Genotype-phenotype, TTR, TransthyretinHeart failure clinics
The Role of Scintigraphy with Bone Radiotracers in Cardiac Amyloidosis.Morfino P, Aimo A, Giorgetti A, Genovesi D, Merlo M, Limongelli G, Castiglione V, Vergaro G, Emdin M2024-07-01Cardiac amyloidosis, Cardiac imaging, Diagnosis, ScintigraphyHeart failure clinics
Clinical Use of Biomarkers in Cardiac Amyloidosis.Lalario A, Saro R, Sinagra G, Merlo M, Porcari A2024-07-01Amyloidosis, Biomarkers, Diagnosis, Light chains, Prognosis, Transthyretin, TreatmentHeart failure clinics
The Role of Echocardiography for the Clinical Diagnosis, Risk Stratification, and Management of Cardiac Amyloidosis.Verrillo F, Palmiero G, Monda E, Dongiglio F, Diana G, Sinagra G, Emdin M, Limongelli G2024-07-01Cardiac amyloidosis, Echocardiography, Scores, Screening, StrainHeart failure clinics
Amyloidosis and Amyloidogenesis: One Name, Many Diseases.Pozzan M, Indennidate C, Varrà GG, Sinagra G, Merlo M, Pagura L2024-07-01ATTR, Amyloidogenesis, Amyloidosis, Cardiac amyloidosis, Insoluble fibrilsHeart failure clinics
Absence of an increased wall thickness does not rule out cardiac amyloidosis.Muller SA, Achten A, van der Meer MG, Zwetsloot PP, Sanders-van Wijk S, van der Harst P, van Tintelen JP, Te Riele ASJM, van Empel V, Knackstedt C, Oerlemans MIFJ2024-05-20Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?Fogaça-da-Mata M, Martínez-Barrios E, Jiménez-Montañés L, Cruzalegui J, Chipa-Ccasani F, Greco A, Cesar S, Díez-Escuté N, Cerralbo P, Zschaeck I, Clavero Adell M, Ayerza-Casas A, Palanca-Arias D, López M, Campuzano O, Brugada J, Sarquella-Brugada G2024-05-17Brugada syndrome, genetics, pulmonary atresia, right ventricle outflow tractGenes
Brugada syndrome in Japan and Europe: a genome-wide association study reveals shared genetic architecture and new risk loci.Ishikawa T, Masuda T, Hachiya T, Dina C, Simonet F, Nagata Y, Tanck MWT, Sonehara K, Glinge C, Tadros R, Khongphatthanayothin A, Lu TP, Higuchi C, Nakajima T, Hayashi K, Aizawa Y, Nakano Y, Nogami A, Morita H, Ohno S, Aiba T, Juárez CK, Mauleekoonphairoj J, Poovorawan Y, Gourraud JB, Shimizu W, Probst V, Horie M, Wilde AAM, Redon R, Juang JJ, Nademanee K, Bezzina CR, Barc J, Tanaka T, Okada Y, Schott JJ, Makita N2024-05-15SCN5A, Brugada syndrome, Cross-ancestry meta-analysis, Genetic risk score, Genome-wide association studiesEuropean heart journal
Magnetic Resonance Imaging Characterization and Clinical Outcomes of Dilated and Arrhythmogenic Left Ventricular Cardiomyopathies.Castrichini M, De Luca A, De Angelis G, Neves R, Paldino A, Dal Ferro M, Barbati G, Medo K, Barison A, Grigoratos C, Gigli M, Stolfo D, Brun F, Groves DW, Quaife R, Eldemire R, Graw S, Addison J, Todiere G, Gueli IA, Botto N, Emdin M, Aquaro GD, Garmany R, Pereira NL, Taylor MRG, Ackerman MJ, Sinagra G, Mestroni L, Giudicessi JR, Merlo M2024-05-14LGE, SCD, arrhythmias, dilated cardiomyopathy, nondilated left ventricular cardiomyopathyJournal of the American College of Cardiology
Multiresistant Kawasaki Disease in a Young Infant with Giant Aneurysms Growing Fast.Amorim-Figueiredo R, Pereira Lemos A, Rito T, Conde M, Brito MJ, Pinto F2024-05-14anakinra, coronary aneurysms, infliximab, intravenous immunoglobulin, multiresistant Kawasaki disease, propranololJournal of cardiovascular development and disease
Assessing the State of Training in Congenital Interventional Cardiology: A Global Survey of Program Directors.Aggarwal V, Butera G, Boe B, Celebi A, Downing T, Rossi RF, Kenny D, Linsky N, Pan X, Sivakumar K, Whiteside W, Hijazi ZM, Armstrong AK2024-05-10Advanced training, Congenital interventional cardiology, Training guidelinesPediatric cardiology
Impact of DCM-Causing Genetic Background on Long-Term Response to Cardiac Resynchronization Therapy.Dal Ferro M, Paldino A, Gregorio C, Bessi R, Zaffalon D, De Angelis G, Severini GM, Stolfo D, Gigli M, Brun F, Massa L, Korcova R, Salvatore L, Bianco E, Mestroni L, Merlo M, Zecchin M, Sinagra G2024-05-08LBBB, LBBBICMP, LV remodeling, cardiac resynchronization therapy, dilated cardiomyopathy, genetic background, super responderJACC. Clinical electrophysiology
Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives.Cabrera-Romero E, Ochoa JP, Barriales-Villa R, Bermúdez-Jiménez FJ, Climent-Payá V, Zorio E, Espinosa MA, Gallego-Delgado M, Navarro-Peñalver M, Arana-Achaga X, Piqueras-Flores J, Espejo-Bares V, Rodríguez-Palomares JF, Lacuey-Lecumberri G, López J, Tiron C, Peña-Peña ML, García-Pinilla JM, Lorca R, Ripoll-Vera T, Díez-López C, Mogollon MV, García-Álvarez A, Martínez-Dolz L, Brion M, Larrañaga-Moreira JM, Jiménez-Jáimez J, García-Álvarez MI, Vilches S, Villacorta E, Sabater-Molina M, Solla-Ruiz I, Royuela A, Domínguez F, Mirelis JG, Garcia-Pavia P2024-04-30dilated cardiomyopathy, genetics, late gadolinium enhancement, penetranceJournal of the American College of Cardiology
External Validation of a Risk Score Model for Predicting Major Clinical Events in Adults After Atrial Switch.Albertini M, Santens B, Fusco F, Sarubbi B, Gallego P, Rodriguez-Puras MJ, Prokselj K, Kauling RM, Roos-Hesselink J, Labombarda F, Van De Bruaene A, Budts W, Waldmann V, Iserin L, Woudstra O, Bouma B, Ladouceur M2024-04-30atrial switch, heart failure, risk score, transposition of the great arteriesJournal of the American Heart Association
Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant.Gnazzo M, Pascolini G, Parlapiano G, Petrizzelli F, Perrino D, Porco L, Bartuli A, Novelli A, Baban A2024-04-25AP1G1, Usmani‐Riazuddin syndrome, craniofacial dysmorphisms, intellectual disability, paroxysmal ventricular tachycardia, skin fragilityClinical genetics
Wearable electrocardiogram devices in patients with congenital long QT syndrome: The SMART-QT study.Delinière A, Bessière F, Placide L, Pasquié JL, Haddad C, Tirel S, Mokhtar H, Morel E, Gardey K, Dulac A, Ditac G, Sacher F, Denjoy I, Chevalier P2024-04-24Digital health, Long QT syndrome, QT interval, Remote monitoring, SmartwatchArchives of cardiovascular diseases
Long-Term Incidence of Arrhythmias in Extracardiac Conduit Fontan and Comparison Between Systemic Left and Right Ventricle.Di Mambro C, Yammine ML, Tamborrino PP, Giordano U, Righi D, Unolt M, Cantarutti N, Maiolo S, Albanese S, Carotti A, Amodeo A, Galletti L, Drago F2024-04-23Arrhythmias, Extracardiac conduit-Fontan, Fontan circulation, Fontan failure, Long-term outcomes, Single ventricleEuropace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
TAD boundary deletion causes PITX2-related cardiac electrical and structural defects.Baudic M, Murata H, Bosada FM, Melo US, Aizawa T, Lindenbaum P, van der Maarel LE, Guedon A, Baron E, Fremy E, Foucal A, Ishikawa T, Ushinohama H, Jurgens SJ, Choi SH, Kyndt F, Le Scouarnec S, Wakker V, Thollet A, Rajalu A, Takaki T, Ohno S, Shimizu W, Horie M, Kimura T, Ellinor PT, Petit F, Dulac Y, Bru P, Boland A, Deleuze JF, Redon R, Le Marec H, Le Tourneau T, Gourraud JB, Yoshida Y, Makita N, Vieyres C, Makiyama T, Mundlos S, Christoffels VM, Probst V, Schott JJ, Barc J2024-04-20Nature communications
Ultraslow thrombolysis for subacute mitral prosthetic valve thrombosis.Szatan T, Sufryd A, Jastrzębski P, Kubicius A, Mizia-Stec K, Wybraniec MT2024-04-19Kardiologia polska
Concurrent Resistance and Cardiorespiratory Training in Patients with Hypertrophic Cardiomyopathy: A Pilot Study.Bayonas-Ruiz A, Muñoz-Franco FM, Sabater-Molina M, Martínez-González-Moro I, Gimeno-Blanes JR, Bonacasa B2024-04-17CPET, HCM, echocardiography, exercise, intervention, prognosisJournal of clinical medicine
The changing landscape of heart failure treatment in transthyretin amyloid cardiomyopathy: Is the time ripe for clinical use of sodium-glucose cotransporter 2 inhibitors?Porcari A, Fontana M2024-04-16European journal of heart failure
Editorial for the article: Hospitalization-based epidemiology of systemic and cardiac amyloidosis in the Veneto Region, Italy.Porcari A, Pozzan M2024-04-15International journal of cardiology
Treatment pathways defined as the sequence of visits to the public health system of patients with cardiomyopathies in Poland in the period 2016-2021.Mizia-Stec K, Grzybowski J, Cegłowska U, Wiśniewska A, Hałgas K, Wybraniec M, Pachciński O, Stec M, Cieśla D, Gąsior M, Hryniewiecki T, Leszek P2024-04-12Kardiologia polska
Can transesophageal echocardiography be safely omitted in patients scheduled for elective ablation of atrial arrhythmias? Data based on the LATTEE registry.Kaufmann D, Królak T, Dąbrowska-Kugacka A, Kapłon-Cieślicka A, Gawałko M, Budnik M, Uziębło-Życzkowska B, Krzesiński P, Starzyk K, Wożakowska-Kapłon B, Wójcik M, Błaszczyk R, Hiczkiewicz J, Budzianowski J, Mizia-Stec K, Wybraniec MT, Kosmalska K, Fijałkowski M, Szymańska A, Dłużniewski M, Haberka M, Kucio M, Michalski B, Kupczyńska K, Tomaszuk-Kazberuk A, Wilk-Śledziewska K, Wachnicka-Truty R, Koziński M, Burchardt P, Daniłowicz-Szymanowicz L2024-04-12atrial arrhythmias, atrial fibrillation, catheter ablation, echocardiography, left atrial thrombusKardiologia polska
Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.Thomson KL, Jiang C, Richardson E, Westphal DS, Burkard T, Wolf CM, Vatta M, Harrison SM, Ingles J, Bezzina CR, Kroncke BM, Vandenberg JI, Ng CA2024-04-11Arrhythmia, Automated Patch Clamp, Electrophysiology, Functional assay, Variant classification, Variant of Uncertain Significance, long QT syndromeHGG advances
Clinical and Prognostic Implications of Right Ventricular Uptake on Bone Scintigraphy in Transthyretin Amyloid Cardiomyopathy.Porcari A, Fontana M, Canepa M, Biagini E, Cappelli F, Gagliardi C, Longhi S, Pagura L, Tini G, Dore F, Bonfiglioli R, Bauckneht M, Miceli A, Girardi F, Martini AL, Barbati G, Costanzo EN, Caponetti AG, Paccagnella A, Sguazzotti M, La Malfa G, Zampieri M, Sciagrà R, Perfetto F, Rowczenio D, Gilbertson J, Hutt DF, Hawkins PN, Rapezzi C, Merlo M, Sinagra G, Gillmore JD2024-04-09amyloidosis, prognosis, tomography, emission-computed, single-photon, transthyretinCirculation
Decreased clinical performance in TGA-ASO patients after RVOT interventions; a multicenter European collaboration.Engele LJ, González-Fernández V, Mulder BJM, Ruperti-Repilado FJ, Abia RL, van der Vlist K, Buendía F, Rueda J, Gabriel H, Schrutka L, Bouchardy J, Schwerzmann M, Possner M, Greutmann M, Gallego P, Ladouceur M, Jongbloed MRM, Tobler D, Dos L, Bouma BJ2024-04-05Arterial switch operation, Peak-VO2, Re-intervention, Right ventricular outflow tract obstruction, Transposition of the great arteriesInternational journal of cardiology
Fabry disease in W162C mutation: a case report of two patients and a review of literature.Furia A, Ditaranto R, Biagini E, Parisi V, Incensi A, Parisini S, Liguori R, Donadio V2024-04-05Biopsy, Fabry disease, Globotriaosylceramide, Heart, SkinBMC neurology
Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care.Baban A, Parlapiano G, Cicenia M, Armando M, Franceschini A, Pacifico C, Panfili A, Zinzanella G, Romanzo A, Fusco A, Caiazza M, Perri G, Galletti L, Digilio MC, Buonuomo PS, Bartuli A, Novelli A, Raponi M, Limongelli G2024-04-03Marfan Syndrome, age related penetrance, children, multidisciplinary management, multisystemic, personalized approach, variabilityJournal of cardiovascular development and disease
Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.Verdonschot JAJ, Hellebrekers DMEI, van Empel VPM, Heijligers M, de Munnik S, Coonen E, Dreesen JCMF, van den Wijngaard A, Brunner HG, Zamani Esteki M, Heymans SRB, de Die-Smulders CEM, Paulussen ADC2024-04-01American Heart Association, Brugada syndrome, cardiomyopathies, heart disease, heart transplantationCirculation. Genomic and precision medicine
Prognostic value of tricuspid valve regurgitation in patients with pulmonary arterial hypertension and CTEPH: A longitudinal study.Veen KM, Koudstaal T, Hendriks PM, Takkenberg JJ, Boomars KA, van den Bosch AE2024-04-01Chronic thromboembolic pulmonary hypertension, Prognosis, Pulmonary arterial hypertension, Tricuspid valve regurgitationInternational journal of cardiology. Heart & vasculature
Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction.Amor-Salamanca A, Santana Rodríguez A, Rasoul H, Rodríguez-Palomares JF, Moldovan O, Hey TM, Delgado MG, Cuenca DL, de Castro Campos D, Basurte-Elorz MT, Macías-Ruiz R, Fuentes Cañamero ME, Galvin J, Bilbao Quesada R, de la Higuera Romero L, Trujillo-Quintero JP, García-Cruz LM, Cárdenas-Reyes I, Jiménez-Jáimez J, García-Hernández S, Valverde-Gómez M, Gómez-Díaz I, Limeres Freire J, García-Pinilla JM, Gimeno-Blanes JR, Savattis K, García-Pavía P, Ochoa JP2024-04-01cardiomyopathies, cardiomyopathy, dilated, heart defects, congenital, heart ventricles, high-throughput nucleotide sequencing, human genetics, transcription factorsCirculation. Genomic and precision medicine
Clinical characteristics and outcome of end stage hypertrophic cardiomyopathy: Role of age and heart failure phenotypes.Musumeci B, Tini G, Biagini E, Merlo M, Calore C, Ammirati E, Zampieri M, Russo D, Grilli G, Santolamazza C, Vio R, Rubino M, Ditaranto R, Del Franco A, Sormani P, Parisi V, Monda E, Francia P, Cipriani A, Limongelli G, Sinagra G, Olivotto I, Boni L, Autore C2024-04-01Advanced heart failure, End stage, Hypertrophic cardiomyopathy, Left ventricular remodelingInternational journal of cardiology
Surgical repair of peripheral pulmonary artery stenosis: Is there still a place for transcatheter interventions?Piccinelli E, Butera G2024-04-01The Journal of thoracic and cardiovascular surgery
Longer and better lives for patients with atrial fibrillation: the 9th AFNET/EHRA consensus conference.Linz D, Andrade JG, Arbelo E, Boriani G, Breithardt G, Camm AJ, Caso V, Nielsen JC, De Melis M, De Potter T, Dichtl W, Diederichsen SZ, Dobrev D, Doll N, Duncker D, Dworatzek E, Eckardt L, Eisert C, Fabritz L, Farkowski M, Filgueiras-Rama D, Goette A, Guasch E, Hack G, Hatem S, Haeusler KG, Healey JS, Heidbuechel H, Hijazi Z, Hofmeister LH, Hove-Madsen L, Huebner T, Kääb S, Kotecha D, Malaczynska-Rajpold K, Merino JL, Metzner A, Mont L, Ng GA, Oeff M, Parwani AS, Puererfellner H, Ravens U, Rienstra M, Sanders P, Scherr D, Schnabel R, Schotten U, Sohns C, Steinbeck G, Steven D, Toennis T, Tzeis S, van Gelder IC, van Leerdam RH, Vernooy K, Wadhwa M, Wakili R, Willems S, Witt H, Zeemering S, Kirchhof P2024-03-30AFNET, Anticoagulation, Artificial intelligence, Atrial cardiomyopathy, Atrial fibrillation, Biomarkers, Bleeding, Catheter ablation, Cognitive function, Consensus statement, Cost, Dementia, EHRA, Guidelines, Heart failure, Integrated care, Outcomes, Quality of care, Research, Research priorities, Rhythm management, Screening, Stroke, TechnologyEuropace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
Implementing a New Algorithm for Reinterpretation of Ambiguous Variants in Genetic Dilated Cardiomyopathy.Pérez-Serra A, Toro R, Martinez-Barrios E, Iglesias A, Fernandez-Falgueras A, Alcalde M, Coll M, Puigmulé M, Del Olmo B, Picó F, Lopez L, Arbelo E, Cesar S, Llano CT, Mangas A, Brugada J, Sarquella-Brugada G, Brugada R, Campuzano O2024-03-29dilated cardiomyopathy, genetics, interpretation, sudden cardiac deathInternational journal of molecular sciences
New Guidelines of Pediatric Cardiac Implantable Electronic Devices: What Is Changing in Clinical Practice?Silvetti MS, Colonna D, Gabbarini F, Porcedda G, Rimini A, D'Onofrio A, Leoni L2024-03-27bradyarrhythmia, cardiac pacing, defibrillator, guidelines, pediatric age, sudden cardiac death, tachyarrhythmiaJournal of cardiovascular development and disease
What Do We Know So Far About Ventricular Arrhythmias and Sudden Cardiac Death Prediction in the Mitral Valve Prolapse Population? Could Biomarkers Help Us Predict Their Occurrence?Dziadosz D, Daniłowicz-Szymanowicz L, Wejner-Mik P, Budnik M, Brzezińska B, Duchnowski P, Golińska-Grzybała K, Jaworski K, Jedliński I, Kamela M, Kasprzak J, Kowalczyk-Domagała M, Kurnicka K, Kustrzycka-Kratochwil D, Mickiewicz K, Możeńska O, Oko-Sarnowska Z, Plewka M, Polewczyk A, Uziębło-Życzkowska B, Wierzbowska-Drabik K, Wachnicka-Truty R, Wołoszyn-Horák E, Szymański P, Gackowski A, Mizia-Stec K2024-03-20Arrhythmic mitral valve prolapse, Mitral annulus disjunction, Mitral valve prolapse, Ventricular arrhythmiaCurrent cardiology reports
Prevalence and clinical outcomes of isolated or combined moderate to severe mitral and tricuspid regurgitation in patients with cardiac amyloidosis.Tomasoni D, Aimo A, Porcari A, Bonfioli GB, Castiglione V, Saro R, Di Pasquale M, Franzini M, Fabiani I, Lombardi CM, Lupi L, Mazzotta M, Nardi M, Pagnesi M, Panichella G, Rossi M, Vergaro G, Merlo M, Sinagra G, Emdin M, Metra M, Adamo M2024-03-18cardiac amyloidosis, mitral regurgitation, prognosis, tricuspid regurgitation, valvular heart diseaseEuropean heart journal. Cardiovascular Imaging
Comparing adolescent- and adult-onset unexplained cardiac arrest: Results from the Dutch Idiopathic VF Registry.Verheul LM, Hoeksema WF, Groeneveld SA, Mulder BA, Bootsma M, Alings M, Evertz R, Blank AC, Kammeraad JAE, Clur SB, Yap SC, Postema PG, Wilde AAM, Volders PGA, Hassink RJ2024-03-16Adolescent, Adult, Electrophysiology, Idiopathic ventricular fibrillation, Sudden cardiac arrest, Ventricular arrhythmiaHeart rhythm
Patients with surgically repaired ASD in childhood: living happily ever after?González-Fernández V, Dos-Subirà L2024-03-15International journal of cardiology
Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature.Maddaloni C, Ronci S, De Rose DU, Bersani I, Campi F, Di Nardo M, Stoppa F, Adorisio R, Amodeo A, Toscano A, Digilio MC, Novelli A, Chello G, Braguglia A, Dotta A, Calzolari F2024-03-05ECMO, Neonatal lung disease, Neonatal persistent pulmonary hypertension, Next-generation sequencing, T-Box factor 4Italian journal of pediatrics
Dynamic Thebesian veins anomaly in a patient with recurrent tako-tsubo-like syndrome.Drabczyk M, Kampka Z, Cichoń M, Holecki M, Mizia-Stec K, Wybraniec MT2024-03-01Postepy w kardiologii interwencyjnej = Advances in interventional cardiology
Automated isochronal late activation mapping for substrate characterization in patients with repaired tetralogy of Fallot.Arana-Rueda E, Acosta J, Frutos-López M, Sánchez-Brotons JA, González de la Portilla-Concha C, Gallego P, Pedrote A2024-03-01Catheter ablation, Congenital heart disease, Electroanatomical mapping, Tetralogy of FallotEuropace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
Electro-anatomically-guided endomyocardial biopsy in a patient with focal myocardial infiltration and chronic lymphocytic leukemia.Wybraniec MT, Grabka M, Hoffmann A, Wojnicz R, Mizia-Stec K2024-03-01chronic lymphocytic leukemia, endomyocardial biopsy, myocardial infarctionThe Journal of invasive cardiology
Idiopathic ventricular fibrillation: is it a case for genetic testing?van der Crabben SN, Wilde AAM2024-03-01DNA, Deep phenotyping, IVF, Inherited cardiac condition, Sudden cardiac deathHerzschrittmachertherapie & Elektrophysiologie
Stent Implantation Across the Atrial Flow Regulator Device.Piccinelli E, Frazzetto F, Pilati M, Butera G2024-03-01Atrial Flow Regulator, Congenital heart disease, Heart failure, Pulmonary hypertension, Stent implantationPediatric cardiology
Reduced kinase function in two ultra-rare TNNI3K variants in families with congenital junctional ectopic tachycardia.Pham C, Koopmann TT, Vinocur JM, Blom NA, Nogueira Silbiger V, Mittal K, Bootsma M, Palm KCA, Clur SB, Barge-Schaapveld DQCM, Hamilton RM, Lodder EM2024-02-29TNNI3K, autophosphorylation, congenital junctional ectopic tachycardia, protein kinase, rare variantsClinical genetics
Apoptosis, a useful marker in the management of hot-phase cardiomyopathy?Bassetto G, Merlo M, Dal Ferro M, Setti M, Paldino A, Collesi C, Artioli R, Loffredo F, D'Elia S, Golino P, Fabris E, Bussani R, Metra M, Limongelli G, Sinagra G2024-02-27Acute myocarditis, Apoptosis, Arrhythmogenic cardiomyopathy, Endomyocardial biopsy, Hot phasesEuropean journal of heart failure
Mitral Annular Disjunction in Idiopathic Ventricular Fibrillation Patients: Just a Bystander or a Potential Cause?Verheul LM, Guglielmo M, Groeneveld SA, Kirkels FP, Scrocco C, Cramer MJ, Bootsma M, Kapel GFL, Alings M, Evertz R, Mulder BA, Prakken NHJ, Balt JC, Volders PGA, Hirsch A, Yap SC, Postema PG, Nijveldt R, Velthuis BK, Behr ER, Wilde AAM, Hassink RJ2024-02-27cardiac magnetic resonance, idiopathic ventricular fibrillation, mitral annular disjunction, mitral valve prolapse, ventricular arrhythmiasEuropean heart journal. Cardiovascular Imaging
ECG-only explainable deep learning algorithm predicts the risk for malignant ventricular arrhythmia in phospholamban cardiomyopathy.van de Leur RR, de Brouwer R, Bleijendaal H, Verstraelen TE, Mahmoud B, Perez-Matos A, Dickhoff C, Schoonderwoerd BA, Germans T, Houweling A, van der Zwaag PA, Cox MGPJ, Peter van Tintelen J, Te Riele ASJM, van den Berg MP, Wilde AAM, Doevendans PA, de Boer RA, van Es R2024-02-23Deep learning, Electrocardiography, Explainable artificial intelligence, Genetic cardiomyopathy, PhospholambanHeart rhythm
Participation in Competitive Sports by Patients With Congenital Heart Disease: AHA/ACC and EAPC/ESC/AEPC Guidelines Comparison.Shibbani K, Abdulkarim A, Budts W, Roos-Hesselink J, Müller J, Shafer K, Porayette P, Zaidi A, Kreutzer J, Alsaied T2024-02-20AHA/ACC, EAPC/ESC/AEPC, adult congenital heart disease, guidelines, sports participationJournal of the American College of Cardiology
Implantable cardioverter defibrillator use in arrhythmogenic right ventricular cardiomyopathy in North America and Europe.Carrick RT, De Marco C, Gasperetti A, Bosman LP, Gourraud JB, Trancuccio A, Mazzanti A, Murray B, Pendleton C, Tichnell C, Tandri H, Zeppenfeld K, Wilde AAM, Davies B, Seifer C, Roberts JD, Healey JS, MacIntyre C, Alqarawi W, Tadros R, Cutler MJ, Targetti M, Calò L, Vitali F, Bertini M, Compagnucci P, Casella M, Dello Russo A, Cappelletto C, De Luca A, Stolfo D, Duru F, Jensen HK, Svensson A, Dahlberg P, Hasselberg NE, Di Marco A, Jordà P, Arbelo E, Moreno Weidmann Z, Borowiec K, Delinière A, Biernacka EK, van Tintelen JP, Platonov PG, Olivotto I, Saguner AM, Haugaa KH, Cox M, Tondo C, Merlo M, Krahn AD, Te Riele ASJM, Wu KC, Calkins H, James CA, Cadrin-Tourigny J2024-02-16Arrhythmogenic right ventricular cardiomyopathy, Implantable cardioverter-defibrillator, Primary prevention, Sudden cardiac death, Ventricular arrhythmiaEuropean heart journal
Dilated cardiomyopathy: second hits knock-down the heart.Verdonschot JAJ, Heymans SRB2024-02-16European heart journal
Long term outcome after surgical ASD-closure at young age: Longitudinal follow-up up to 50 years after surgery.Kauling RM, Pelosi C, Cuypers JAAE, van den Bosch AE, Hirsch A, Carvalho JG, Bowen DJ, Kardys I, Bogers AJJC, Helbing WA, Roos-Hesselink JW2024-02-15Atrial septal defect, Cardiac surgery, Long-term outcome, Quality of lifeInternational journal of cardiology
Current treatment and immunomodulation strategies in Acute Myocarditis.Ferone E, Segev A, Tempo E, Gentile P, Elsanhoury A, Baggio C, Artico J, Bhatti P, Scott P, Bobbio E, Merlo M, Ameri P, Sinagra G, Tschöpe C, Bromage D, Cannata A2024-02-09Journal of cardiovascular pharmacology
Intra-stent aortic wall aneurysm formation after Be-graft covered stent implant.Bianco L, Rebonato M, Butera G2024-02-01aorta, complications, pediatric catheterization/intervention, pediatric interventionCatheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions
[Screening for heart disease in kids and adolescents (Prevencar Program)].Zapata Martínez M, Pardo Ríos M, García Alberola A, López-Picazo Ferrer J, Banacloche Cano C, Iglesias Gómez C, Pérez Gálvez MD, Fernández Redondo C, Gimeno Blanes JR2024-02-01Adolescentes, Cardiopatías, Cribado, Electrocardiografía, Electrocardiograph, Heart disease, Muerte súbita cardíaca, Screening, Sudden cardiac death, TeenagersAtencion primaria
Cardiac [99mTc]Tc-hydroxydiphosphonate uptake on bone scintigraphy in patients with hereditary transthyretin amyloidosis: an early follow-up marker?Tingen HSA, Tubben A, Bijzet J, van den Berg MP, van der Meer P, Houwerzijl EJ, Muntinghe FLH, van der Zwaag PA, Glaudemans AWJM, Oerlemans MIFJ, Knackstedt C, Michels M, Hirsch A, Hazenberg BPC, Slart RHJA, Nienhuis HLA2024-02-01ATTR-CM, ATTRv amyloidosis, Bone scintigraphy, Gene silencing, Monitoring, TTR stabilizersEuropean journal of nuclear medicine and molecular imaging
Ebstein's anomaly in children and adults: multidisciplinary insights into imaging and therapy.Pasqualin G, Boccellino A, Chessa M, Ciconte G, Marcolin C, Micaglio E, Pappone C, Sturla F, Giamberti A2024-01-29Arrhythmias, Cardiac, Congenital Abnormalities, Diagnostic Imaging, Genetics, Heart Defects, CongenitalHeart (British Cardiac Society)
Outcomes of transcatheter pulmonary SAPIEN 3 valve implantation: an international registry.Hascoët S, Bentham JR, Giugno L, Betrián-Blasco P, Kempny A, Houeijeh A, Baho H, Sharma SR, Jones MI, Biernacka EK, Combes N, Georgiev S, Bouvaist H, Martins JD, Kantzis M, Turner M, Schubert S, Jalal Z, Butera G, Malekzadeh-Milani S, Valdeolmillos E, Karsenty C, Ödemiş E, Aldebert P, Haas NA, Khatib I, Wåhlander H, Gaio G, Mendoza A, Arif S, Castaldi B, Dohlen G, Carere RG, Del Cerro-Marin MJ, Kitzmüller E, Hermuzi A, Carminati M, Guérin P, Tengler A, Fraisse A2024-01-14Congenital heart disease, Percutaneous pulmonary valve implantation, Pulmonary valve, SAPIEN 3, SAPIEN 3 Ultra, Transcatheter pulmonary valve replacementEuropean heart journal
Characterization and natural history of different phenotypes in hereditary transthyretin amyloidosis: 40-year experience at a single Italian referral center.Caponetti AG, Sguazzotti M, Accietto A, Saturi G, Ponziani A, Giovannetti A, Massa P, Ruotolo I, Sena G, Zaccaro A, Parisi V, Bonfiglioli R, Guaraldi P, Gagliardi C, Cortelli P, Galie N, Biagini E, Longhi S2024-01-10amyloidosis, cardiomyopathy, healthy carriers, polyneuropathy, transthyretinEuropean journal of preventive cardiology
Breakthrough advances enhancing care in ATTR amyloid cardiomyopathy.Porcari A, Sinagra G, Gillmore JD, Fontana M, Hawkins PN2024-01-05European journal of internal medicine
Feasibility and reliability of fetal two dimensional speckle tracking echocardiography at 16 weeks gestational age: A pilot study.Nichting TJ, van Lier ZA, de Vet C, van der Ven M, van der Woude DAA, Clur SA, van Oostrum NHM, Oei SG, van Laar JOEH2024-01-01PloS one
Blood and Imaging Biomarkers in the Long-term Follow-up of Bicuspid Aortic Valve Patients.Keuning ZA, Hendriks PM, Duijnhouwer AL, Meccanici F, Siebelink HJ, van den Hoven AT, Geenen LW, Eindhoven JA, Baggen VJM, Cuypers JAAE, Kauling RM, Roos-Hesselink JW, van den Bosch AE2024-01-01CJC open
Incidence and prevalence of cardiomyopathies in Poland and outcomes for patients in the years 2016-2020.Mizia-Stec K, Leszek P, Cegłowska U, Wiśniewska A, Hałgas K, Wybraniec M, Pachciński O, Stec M, Cieśla D, Gąsior M, Grzybowski J2024-01-01Kardiologia polska
Top stories on Brugada syndrome.Wilde AAM2024-01-01Heart rhythm
Real-world candidacy to mavacamten in a contemporary hypertrophic obstructive cardiomyopathy population.Bertero E, Chiti C, Schiavo MA, Tini G, Costa P, Todiere G, Mabritto B, Dei LL, Giannattasio A, Mariani D, Lofiego C, Santolamazza C, Monda E, Quarta G, Barbisan D, Mandoli GE, Mapelli M, Sguazzotti M, Negri F, De Vecchi S, Ciabatti M, Tomasoni D, Mazzanti A, Marzo F, de Gregorio C, Raineri C, Vianello PF, Marchi A, Biagioni G, Insinna E, Parisi V, Ditaranto R, Barison A, Giammarresi A, De Ferrari GM, Priori S, Metra M, Pieroni M, Patti G, Imazio M, Perugini E, Agostoni P, Cameli M, Merlo M, Sinagra G, Senni M, Limongelli G, Ammirati E, Vagnarelli F, Crotti L, Badano L, Calore C, Gabrielli D, Re F, Musumeci G, Emdin M, Barbato E, Musumeci B, Autore C, Biagini E, Porto I, Olivotto I, Canepa M2024-01-01EXPLORER-HCM trial, Hypertrophic obstructive cardiomyopathy, Mavacamten, Myosin inhibitorsEuropean journal of heart failure
Modern tools in congenital heart disease imaging and procedure planning: a European survey.Iannotta M, d'Aiello FA, Van De Bruaene A, Caruso R, Conte G, Ferrero P, Bassareo PP, Pasqualin G, Chiarello C, Militaru C, Giamberti A, Bognoni L, Chessa M2024-01-01Journal of cardiovascular medicine (Hagerstown, Md.)
Coronary artery disease and dilated cardiomyopathy: Where parallel universes merge.Merlo M, Setti M, Sinagra G2024-01-01European journal of heart failure
Acute purulent pericarditis complicated by cardiac tamponade in a patient with human immunodeficiency virus.Sufryd A, Kubicius A, Mizia-Stec K, Wybraniec MT2024-01-01Kardiologia polska
Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies: Results From a Dutch Multicenter Cohort Study.Jansen M, de Brouwer R, Hassanzada F, Schoemaker AE, Schmidt AF, Kooijman-Reumerman MD, Bracun V, Slieker MG, Dooijes D, Vermeer AMC, Wilde AAM, Amin AS, Lekanne Deprez RH, Herkert JC, Christiaans I, de Boer RA, Jongbloed JDH, van Tintelen JP, Asselbergs FW, Baas AF2024-01-01MYH7, cardiomyopathy, myosin, penetrance, prognosis, screeningJACC. Heart failure
Univentricular hearts not undergoing Fontan: the type of palliation matters.Gordon B, Buendía-Fuentes F, Rueda-Soriano J, Merás Colunga P, Gallego P, González García AE, Prieto-Arévalo R, Segura de la Cal T, Rodríguez-Puras MJ, Montserrat S, Sarnago-Cebada F, Alonso-García A, Oliver JM, Dos-Subirà L2024-01-01Aortopulmonary shunts, Cardiopatías congénitas, Cavopulmonary shunts, Congenital heart defects, Corazón univentricular, Fontan procedure, Procedimiento de Fontan, Shunt aortopulmonar, Shunt cavopulmonar, Single ventricleRevista espanola de cardiologia (English ed.)
Increased Pulmonary-Aortic Interspace in Fetal Right Aortic Arch: A Matched Case-Control Study.Bet BB, van Steijn AE, Linskens IH, Knobbe I, van Leeuwen E, Pajkrt E, Clur SA2024-01-01Fetal echocardiography, Prenatal diagnosis, Right aortic arch, Three-vessel and trachea view, Three-vessel viewFetal diagnosis and therapy
Is right ventricular outflow tract epicardial substrate ablation the standard of care in high-risk Brugada syndrome?Behr ER, Conte G, Wilde A2023-12-28Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
Auto-expandable pulmonary valve leaflet microthrombosis: a subtle and dangerous phenomenon.Pilati M, Duong P, Bordonaro V, Secinaro A, Butera G2023-12-21European heart journal. Cardiovascular Imaging
Flecainide Is Associated With a Lower Incidence of Arrhythmic Events in a Large Cohort of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia.Bergeman AT, Lieve KVV, Kallas D, Bos JM, Rosés I Noguer F, Denjoy I, Zorio E, Kammeraad JAE, Peltenburg PJ, Tobert K, Aiba T, Atallah J, Drago F, Batra AS, Brugada R, Borggrefe M, Clur SB, Cox MGPJ, Davis A, Dhillon S, Etheridge SP, Fischbach P, Franciosi S, Haugaa K, Horie M, Johnsrude C, Kane AM, Krause U, Kwok SY, LaPage MJ, Ohno S, Probst V, Roberts JD, Robyns T, Sacher F, Semsarian C, Skinner JR, Swan H, Tavacova T, Tisma-Dupanovic S, Tfelt-Hansen J, Yap SC, Kannankeril PJ, Leenhardt A, Till J, Sanatani S, Tanck MWT, Ackerman MJ, Wilde AAM, van der Werf C2023-12-19catecholaminergic polymorphic ventricular tachycardia, sudden cardiac death, ventricular arrhythmiasCirculation
Electrocardiographic heterogeneity of patients with variant transthyretin amyloid cardiomyopathy: Genotype-phenotype correlations.Russo D, Cappelli F, Di Bella G, Tini G, Porcari A, Cipriani A, Canepa M, Merlo M, Licordari R, Vianello PF, Zampieri M, De Michieli L, Scirpa R, Perfetto F, Sinagra G, Autore C, Rapezzi C, Musumeci MB2023-12-15Cardiac amyloidosis, ECG, Genotype phenotype correlations, Hereditary transthyretinInternational journal of cardiology
Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review.van Pottelberghe S, Kupper N, Scheirlynck E, Amin AS, Wilde AAM, Hofman N, Callus E, Biller R, Nekkebroeck J, Van Dooren S, Hes FJ, van der Crabben SN2023-12-14European journal of human genetics : EJHG
Lights and Shadows of Clinical Applications of Cardiac Scintigraphy with Bone Tracers in Suspected Amyloidosis.Saro R, Pavan D, Porcari A, Sinagra G, Mojoli M2023-12-10HFpEF, bone scintigraphy, bone tracers, cardiac amyloidosis, cardiomyopathies, multidisciplinary teamsJournal of clinical medicine
Impact of SARS-CoV-2 infection in patients with cardiac amyloidosis: Results of a multicentre registry.Larrañaga-Moreira JM, Rodriguez-Serrano AI, Domínguez F, Lalario A, Zorio E, Barriales-Villa R2023-12-07Amiloidosis cardíaca, COVID-19, Cardiac amyloidosis, Heart failure, Infección por SARS-CoV-2, Insuficiencia cardíaca, Prognosis, Pronóstico, Registries, Registro, SARS-CoV-2 infectionMedicina clinica
Early-onset cardiac arrest, prolonged QT interval, and left ventricular hypertrophy: Phenotypic manifestations of a pathogenic de novo calmodulin variant.Wong LCH, Roses-Noguer F, Bueno A, Villabriga BB, Homfray T, Till J2023-12-01Calmodulin, Cardiac arrest, Catecholaminergic polymorphic ventricular tachycardia, Long QT syndrome, Ventricular hypertrophyHeartRhythm case reports
Patient-derived stem cell line UKMi005-A (hiPSC) harboring a non-synonymous heterozygous KCNJ5 gene variant.Kayser A, Dittmann S, van Impel A, Šarić T, Schulze-Bahr E2023-12-01Stem cell research
Counterpoint: Ablation in long QT syndrome.Wilde AAM, Ackerman MJ2023-12-01Heart rhythm
Development and Validation of a Prediction Model and Score for Transthyretin Cardiac Amyloidosis Diagnosis: T-Amylo.Arana-Achaga X, Goena-Vives C, Villanueva-Benito I, Solla-Ruiz I, Rengel Jimenez A, Gaspar TI, Urreta-Barallobre I, Barge-Caballero G, Seijas-Marcos S, Cabrera E, Garcia-Pavía P, Basurte Elorz MT, Ayestarán NM, Sierra LT, Robledo Iñarritu M, Lozano-Bahamonde A, Escolar-Perez V, Gómez-Ramírez C, Alzola E, Andrés RN, Francisco Matias JL, Limeres Freire J, Armengou Arxe A, Negre Busó M, Piqueras-Flores J, Martínez-Del Río J, Onaindia Gandarias JJ, Rodriguez Sanchez I, Querejeta Iraola R2023-12-01amyloidosis, prediction model, suspicion diagnosis, transthyretinJACC. Cardiovascular imaging
Barriers and facilitators for the implementation of patient-centered care in cardiogenetics: a Delphi study among ERN GUARD-heart members.van Pottelberghe S, Heine F, Van Dooren S, Hes F, Kupper N2023-12-01European journal of human genetics : EJHG
Fetal premature atrial contractions: natural course, risk factors and adverse outcomes.Bet BB, Eijsbroek FC, van Leeuwen E, Linskens IH, Knobbe I, Clur SA, Pajkrt E2023-11-29Fetal arrhythmia, congenital heart defects, fetal echocardiography, premature atrial contractions, supraventricular tachycardiaUltrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
The Transcatheter Closure of Patent Ductus Arteriosus in Extremely Low-Birth-Weight Infants: Technique and Results.Baruteau AE, Fraisse A, Butera G, Bautista-Rodriguez C2023-11-27Doppler echocardiography, extremely low-birth-weight infants, outcomes, patent ductus arteriosus, premature infantJournal of cardiovascular development and disease
Pulmonary arterial hypertension in congenital heart disease.Ferrero P, Krishnathasan K, Constantine A, Chessa M, Dimopoulos K2023-11-14Heart Defects, Congenital, Hypertension, Pulmonary, Pulmonary Arterial HypertensionHeart (British Cardiac Society)
Acquired cardiovascular disease in adults with congenital heart disease.Brida M, De Rosa S, Legendre A, Ladouceur M, Dos Subira L, Scognamiglio G, Di Mario C, Roos-Hesselink J, Goossens E, Diller G, Gatzoulis MA2023-11-14Adult congenital heart disease, Cardiovascular prevention, Cardiovascular risk factors, Transition medicineEuropean heart journal
Transcatheter closure in preterm infants with patent ductus arteriosus: feasibility, results, hemodynamic monitoring and future prospectives.Francescato G, Doni D, Annoni G, Capolupo I, Ciarmoli E, Corsini I, Gatelli IF, Salvadori S, Testa A, Butera G2023-11-06Patent ductus arteriosus, Preterm infants, Transcatheter closureItalian journal of pediatrics
[European guidelines on cardiomyopathies: what's new?].Iacovoni A, Sinagra G2023-11-01Giornale italiano di cardiologia (2006)
Fetal electrocardiography and artificial intelligence for prenatal detection of congenital heart disease.de Vries IR, van Laar JOEH, van der Hout-van der Jagt MB, Clur SB, Vullings R2023-11-01artificial intelligence, congenital heart disease, fetal electrocardiography, fetal heart, prenatal diagnosisActa obstetricia et gynecologica Scandinavica
Provocation testing in congenital long QT syndrome: A practical guide.Abrahams T, Davies B, Laksman Z, Sy RW, Postema PG, Wilde AAM, Krahn AD, Han HC2023-11-01Congenital long QT, LQT1, LQT2, LQT3, LQTS, Long QT, Practical guide, Provocation testing, QTcHeart rhythm
Importance of exercise stress testing in evaluation of unexplained cardiac arrest survivor.Bergeman AT, Robyns T, Amin AS, Wilde AAM, van der Werf C2023-11-01CPVT, Exercise stress testing, Sudden cardiac arrestNetherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation
The next step toward personalized recommendations for genetic cardiomyopathies.Stroeks SLVM, Verdonschot JAJ2023-11-01European journal of human genetics : EJHG
Cardiovascular Magnetic Resonance Versus Histopathologic Study for Diagnosis of Benign and Malignant Cardiac Tumours: A Systematic Review and Meta-Analysis.Nóbrega S, Martins da Costa C, Amador AF, Justo S, Martins E2023-10-01Cardiac imaging techniques, Diagnosis, Heart neoplasms, Magnetic resonance imaging, Pathology, surgicalJournal of cardiovascular imaging
Emergency department management of atrial fibrillation: 2023 consensus from the Spanish Society of Emergency Medicine (SEMES), the Spanish Society of Cardiology (SEC), and the Spanish Society of Thrombosis and Hemostasis (SETH).Martín A, Calvo D, Llamas P, Roldán V, Cózar R, Fernández de Simón A, Ávila P, Del Arco C, Arbelo E, Piñera P, Coll-Vinent B2023-10-01Antiarrhythmia agents., Anticoagulants., Atrial fibrillation., Cardioversión., Control de frecuencia., Control del ritmo., Electric countershock., Emergency health services., Fibrilación auricular., Fármacos antiarrítmicos., Heart rate control., Heart rhythm control., Servicios de Urgencias., Thromboembolism., Tromboembolia, anticoagulación.Emergencias : revista de la Sociedad Espanola de Medicina de Emergencias
Athletes and suspected catecholaminergic polymorphic ventricular tachycardia: Awareness and current knowledge.Mascia G, Brugada J, Arbelo E, Porto I2023-10-01Brugada syndrome, cardiac arrest, sudden death, ventricular tachycardiaJournal of cardiovascular electrophysiology
Left Ventricular Abnormal Substrate in Brugada Syndrome.Cheniti G, Haissaguerre M, Dina C, Kamakura T, Duchateau J, Sacher F, Racine HP, Surget E, Simonet F, Gourraud JB, Sridi S, Cochet H, Andre C, Bouyer B, Chauvel R, Tixier R, Derval N, Pambrun T, Dubois R, Jais P, Nademanee K, Redon R, Schott JJ, Probst V, Hocini M, Barc J, Bernus O2023-10-01Brugada syndrome, SCN5A mutation, ventricular fibrillationJACC. Clinical electrophysiology
Pushing prognostic boundaries in Brugada syndrome: Trying to predict the unpredictable.Asatryan B, Postema PG, Wilde AAM2023-10-01Heart rhythm
Toward advanced diagnosis and management of inherited arrhythmia syndromes: Harnessing the capabilities of artificial intelligence and machine learning.Asatryan B, Bleijendaal H, Wilde AAM2023-10-01Brugada syndrome, Cardiomyopathy, Deep learning, Genetic testing, Genetics, Inherited arrhythmia syndrome, Long QT syndrome, Neural network, Prediction, Sudden cardiac deathHeart rhythm
Pharmacological cardioversion of atrial fibrillation: practical considerations.Wybraniec MT, Kampka Z, Mizia-Stec K2023-09-29Polish archives of internal medicine
Correction: Catalytic antibodies in arrhythmogenic cardiomyopathy patients cleave desmoglein 2 and N-cadherin and impair cardiomyocyte cohesion.Yeruva S, Stangner K, Jungwirth A, Hiermaier M, Shoykhet M, Kugelmann D, Hertl M, Egami S, Ishii N, Koga H, Hashimoto T, Weis M, Beckmann BM, Biller R, Schüttler D, Kääb S, Waschke J2023-09-20Cellular and molecular life sciences : CMLS
Heart failure management in congenital heart diseases: many familiar faces and some strangers.Ferrero P, Chessa M2023-09-20European journal of preventive cardiology
Oxygen Uptake Efficiency Slope at a Glance: A Fascinating Index Carrying Unsolved Questions.Rossi M, Sinagra G, Merlo M2023-09-15The American journal of cardiology
Quality of life and societal costs in patients with dilated cardiomyopathy.Wiethoff I, Sikking M, Evers S, Gabrio A, Henkens M, Michels M, Verdonschot J, Heymans S, Hiligsmann M2023-09-14Burden of disease, Dilated cardiomyopathy, Healthcare resource utilisation, Quality of life, Societal costsEuropean heart journal. Quality of care & clinical outcomes
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry.Crotti L, Spazzolini C, Nyegaard M, Overgaard MT, Kotta MC, Dagradi F, Sala L, Aiba T, Ayers MD, Baban A, Barc J, Beach CM, Behr ER, Bos JM, Cerrone M, Covi P, Cuneo B, Denjoy I, Donner B, Elbert A, Eliasson H, Etheridge SP, Fukuyama M, Girolami F, Hamilton R, Horie M, Iascone M, Jiménez-Jaimez J, Jensen HK, Kannankeril PJ, Kaski JP, Makita N, Muñoz-Esparza C, Odland HH, Ohno S, Papagiannis J, Porretta AP, Prandstetter C, Probst V, Robyns T, Rosenthal E, Rosés-Noguer F, Sekarski N, Singh A, Spentzou G, Stute F, Tfelt-Hansen J, Till J, Tobert KE, Vinocur JM, Webster G, Wilde AAM, Wolf CM, Ackerman MJ, Schwartz PJ2023-09-14Calmodulin, Cardiomyopathies, Catecholaminergic polymorphic ventricular tachycardia, Idiopathic ventricular fibrillation, Long QT syndrome, Neurological disorders, Sudden deathEuropean heart journal
RyR2 C-terminal truncating variants identified in patients with arrhythmic phenotypes exert a dominant negative effect through formation of wildtype-truncation heteromers.Tian S, Zhong X, Wang H, Wei J, Guo W, Wang R, Paul Estillore J, Napolitano C, Duff HH, Ilhan E, Knight LM, Lloyd MS, Roberts JD, Priori SG, Chen SRW2023-09-13cardiac ryanodine receptor, intracellular Ca2+ release, missense and truncating variants, sarcoplasmic reticulum, ventricular tachyarrhythmiaThe Biochemical journal
End-stage heart failure in congenitally corrected transposition of the great arteries: a multicentre study.van Dissel AC, Opotowsky AR, Burchill LJ, Aboulhosn J, Grewal J, Lubert AM, Antonova P, Shah S, Cotts T, John AS, Kay WA, DeZorzi C, Magalski A, Han F, Baker D, Kay J, Yeung E, Vonder Muhll I, Pylypchuk S, Kuo MC, Nicolarsen J, Sarubbi B, Fusco F, Jameson SM, Cramer J, Gupta T, Gallego P, O'Donnell C, Hannah J, Dellborg M, Kauling RM, Ginde S, Krieger EV, Rodriguez F, Dehghani P, Kutty S, Wong J, Wilson WM, Rodriguez-Monserrate CP, Roos-Hesselink J, Celermajer DS, Khairy P, Broberg CS2023-09-07Adult congenital heart disease, Congestive heart failure, Heart transplantation, Mechanical circulatory support, Systemic right ventricle, Transposition of the great arteriesEuropean heart journal
Reply.de Vet CM, van Oostrum NHM, Clur SB, Oei SG, van Laar JOEH2023-09-01Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
[Eight reasons why cardiologists should not overlook the problem "obesity". Expert opinion for clinical practice].Volpe M, Borghi C, Cameli M, Cianflone D, Cittadini A, Maggioni AP, Perrone Filardi P, Rosano G, Senni M, Sinagra G2023-09-01Giornale italiano di cardiologia (2006)
Diagnosis and treatment of fetal and pediatric age patients (0-12 years) with Wolff-Parkinson-White syndrome and atrioventricular accessory pathways.Leoni L, Bronzetti G, Colonna D, Porcedda G, Rimini A, Silvetti MS2023-09-01Journal of cardiovascular medicine (Hagerstown, Md.)
Role of microRNAs in arrhythmogenic cardiomyopathy: translation as biomarkers into clinical practice.Alcalde M, Toro R, Bonet F, Córdoba-Caballero J, Martínez-Barrios E, Ranea JA, Vallverdú-Prats M, Brugada R, Meraviglia V, Bellin M, Sarquella-Brugada G, Campuzano O2023-09-01arrhythmogenic cardiomyopathy, biomarkers, genetics, microRNAs, sudden cardiac deathTranslational research : the journal of laboratory and clinical medicine
Manual vs. automatic assessment of the QT-interval and corrected QT.Neumann B, Vink AS, Hermans BJM, Lieve KVV, Cömert D, Beckmann BM, Clur SB, Blom NA, Delhaas T, Wilde AAM, Kääb S, Postema PG, Sinner MF2023-08-02Electrocardiogram, Long QT syndrome, Misassessment, QT-interval, QTc, Sudden cardiac deathEuropace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
Heart failure with reduced ejection fraction and monogenic dilated cardiomyopathy: Distinct diseases? Insights from randomized controlled trials.Sinagra G, Gigli M, Dal Ferro M2023-08-01European journal of heart failure
Hyperinflammatory syndrome in a paediatric patient with a recent diagnosis of HIV/AIDS infection: hemophagocytic lymphohistiocytosis or immune reconstitution syndrome?Leone F, Cotugno N, Casamento Tumeo C, Zangari P, Palomba P, Adorisio R, De Benedetti F, Bracaglia C, Papoff P, Ajassa C, Palma P, Bernardi S2023-07-18AIDS, HIV, HLH, Hyperinflammatory syndrome, IRIS, Infection, MIS-C, PediatricBMC infectious diseases
Recommendations for the Management of Cardiomyopathy Mutation Carriers: Evidence, Doubts, and Intentions.Couto JF, Martins E2023-07-15arrhythmogenic cardiomyopathy, dilated cardiomyopathy, hypertrophic cardiomyopathy, noncompactionJournal of clinical medicine
Catalytic antibodies in arrhythmogenic cardiomyopathy patients cleave desmoglein 2 and N-cadherin and impair cardiomyocyte cohesion.Yeruva S, Stangner K, Jungwirth A, Hiermaier M, Shoykhet M, Kugelmann D, Hertl M, Egami S, Ishii N, Koga H, Hashimoto T, Weis M, Beckmann BM, Biller R, Schüttler D, Kääb S, Waschke J2023-07-14Arrhythmogenic cardiomyopathy, Autoantibodies, Cadherin, Desmoglein 2, Desmosome, Intercalated disc, Intercellular adhesion, PemphigusCellular and molecular life sciences : CMLS
Use, misuse, and pitfalls of the drug challenge test in the diagnosis of the Brugada syndrome.Wilde AAM, Amin AS, Morita H, Tadros R2023-07-14Brugada syndrome, Drug challenge test, Genetics, Risk stratification, Sodium channel blockerEuropean heart journal
Sport and exercise in genotype positive (+) phenotype negative (-) individuals: current dilemmas and future perspectives.Paldino A, Rossi M, Dal Ferro M, Tavčar I, Behr E, Sharma S, Papadakis M, Sinagra G, Finocchiaro G2023-07-12Cardiomyopathy, Channelopathy, Genotype positive–Phenotype negative, SportEuropean journal of preventive cardiology
Clinical Application of the HCM-AF Risk Score in the Prediction of Clinical Outcomes of Polish Patients with Hypertrophic Cardiomyopathy.Stec M, Suleja A, Gondko D, Kuczmik W, Roman J, Dziadosz D, Szydło K, Mizia-Stec K2023-07-04HCM-AF Risk Score, atrial fibrillation, hypertrophic cardiomyopathyJournal of clinical medicine
Rare Forms of Cardiac Amyloidosis: Diagnostic Clues and Phenotype in Apo AI and AIV Amyloidosis.Ioannou A, Porcari A, Patel RK, Razvi Y, Sinigiani G, Martinez-Naharro A, Venneri L, Moon J, Rauf MU, Lachmann H, Wechelakar A, Hawkins PN, Gillmore JD, Fontana M2023-07-01amyloidosis, apolipoprotein, hereditary, phenotype, prognosis, transthyretin-relatedCirculation. Cardiovascular imaging
[Ten perspectives for research and innovation in cardiac amyloidosis].Porcari A, Aimo A, Vergaro G, Merlo M, Emdin M, Sinagra G2023-07-01Giornale italiano di cardiologia (2006)
Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathy.Stroeks SLVM, Hellebrekers D, Claes GRF, Krapels IPC, Henkens MHTM, Sikking M, Vanhoutte EK, Helderman-van den Enden A, Brunner HG, van den Wijngaard A, Verdonschot JAJ2023-07-01European journal of human genetics : EJHG
Clinical applicability of artificial intelligence for patients with an inherited heart disease: A scoping review.Bleijendaal H, Croon PM, Pool MDO, Malekzadeh A, Aufiero S, Amin AS, Zwinderman AH, Pinto YM, Wilde AAM, Winter MM2023-07-01Trends in cardiovascular medicine
Overview of Long-Term Outcome in Adults with Systemic Right Ventricle and Transposition of the Great Arteries: A Review.Bevilacqua F, Pasqualin G, Ferrero P, Micheletti A, Negura DG, D'Aiello AF, Giamberti A, Chessa M2023-06-28adult congenital heart disease, heart failure, sudden cardiac death, systemic right ventricle, transposition of the great arteryDiagnostics (Basel, Switzerland)
Tc-99m labelled bone scintigraphy in suspected cardiac amyloidosis.Rauf MU, Hawkins PN, Cappelli F, Perfetto F, Zampieri M, Argiro A, Petrie A, Law S, Porcari A, Razvi Y, Bomsztyk J, Ravichandran S, Ioannou A, Patel R, Starr N, Hutt DF, Mahmood S, Wisniowski B, Martinez-Naharro A, Venneri L, Whelan C, Roczenio D, Gilbertson J, Lachmann HJ, Wechalekar AD, Rapezzi C, Serenelli M, Massa P, Caponetti AG, Ponziani A, Accietto A, Giovannetti A, Saturi G, Sguazzotti M, Gagliardi C, Biagini E, Longhi S, Fontana M, Gillmore JD2023-06-25ATTR cardiomyopathy, Amyloid, Amyloidosis, Radionuclide scintigraphy, eGFREuropean heart journal
Implementing clinical pathways to enable early diagnosis and treatment of wild-type transthyretin amyloid cardiomyopathy.Muller SA, Oerlemans MIFJ2023-06-01European journal of heart failure
Diagnostic pathways to wild-type transthyretin amyloid cardiomyopathy: a multicentre network study.Tini G, Milani P, Zampieri M, Caponetti AG, Fabris F, Foli A, Argirò A, Mazzoni C, Gagliardi C, Longhi S, Saturi G, Vergaro G, Aimo A, Russo D, Varrà GG, Serenelli M, Fabbri G, De Michieli L, Palmiero G, Ciliberti G, Carigi S, Sessarego E, Mandoli GE, Ricci Lucchi G, Rella V, Monti E, Gardini E, Bartolotti M, Crotti L, Merli E, Mussinelli R, Vianello PF, Cameli M, Marzo F, Guerra F, Limongelli G, Cipriani A, Perlini S, Obici L, Perfetto F, Autore C, Porto I, Rapezzi C, Sinagra G, Merlo M, Musumeci B, Emdin M, Biagini E, Cappelli F, Palladini G, Canepa M2023-06-01Cardiac amyloidosis, Epidemiology of cardiac amyloidosis, Tafamidis, Wild-type transthyretin cardiac amyloidosisEuropean journal of heart failure
Subepicardial Cardiomyopathy: A Disease Underlying J-Wave Syndromes and Idiopathic Ventricular Fibrillation.Miles C, Boukens BJ, Scrocco C, Wilde AAM, Nademanee K, Haissaguerre M, Coronel R, Behr ER2023-05-23Brugada syndrome, arrhythmogenic cardiomyopathies, ventricular fibrillationCirculation
Long-Term Outcomes of Brugada Substrate Ablation: A Report from BRAVO (Brugada Ablation of VF Substrate Ongoing Multicenter Registry).Nademanee K, Chung FP, Sacher F, Nogami A, Nakagawa H, Jiang C, Hocini M, Behr E, Veerakul G, Jan Smit J, Wilde AAM, Chen SA, Yamashiro K, Sakamoto Y, Morishima I, Das MK, Khongphatthanayothin A, Vardhanabhuti S, Haissaguerre M2023-05-23Brugada syndrome, channelopathies, death, sudden, defibrillators, implantable, ventricular fibrillationCirculation
AEPC recommendations for training in interventional catheterisation for CHD.Krasemann T, Butera G, Thomson J, Chessa M, Bokenkamp R2023-05-22AEPC, CHD, Training guidelines, interventional catheterisationCardiology in the young
The Effect of Holographic Heart Models and Mixed Reality for Anatomy Learning in Congenital Heart Disease: An Exploratory Study.d'Aiello AF, Cabitza F, Natali C, Viganò S, Ferrero P, Bognoni L, Pasqualin G, Giamberti A, Chessa M2023-05-17Augmented reality, Congenital heart disease, HoloLens, Holographic images, Medical education, Mixed realityJournal of medical systems
From the phenotype to precision medicine: an update on the cardiomyopathies diagnostic workflow.Autore C, Bariani R, Bauce B, Biagini E, Canepa M, Castelletti S, Crotti L, Limongelli G, Merlo M, Monda E, Pio Loco Detto Gava C, Parisi V, Tini G, Imazio M2023-05-01Journal of cardiovascular medicine (Hagerstown, Md.)
New perspectives in diagnosis and risk stratification of non-ischaemic dilated cardiomyopathy.Pio Loco Detto Gava C, Merlo M, Paldino A, Korcova R, Massa L, Porcari A, Zecchin M, Perotto M, Rossi M, Sinagra G2023-05-01Aetiological classification, Arrhythmic risk stratification, Non-ischaemic dilated cardiomyopathyEuropean heart journal supplements : journal of the European Society of Cardiology
Transcatheter versus surgical treatment for isolated superior sinus venosus atrial septal defect.Brancato F, Stephenson N, Rosenthal E, Hansen JH, Jones MI, Qureshi S, Austin C, Speggiorin S, Caner S, Butera G2023-05-01atrial septal defects, cardiac surgery, catheterization, congenitalCatheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions
Spontaneous preterm birth and congenital heart defects: What is known?Laranjo SM2023-05-01Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology
ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium.Bermúdez-Jiménez FJ, Carriel V, Santos-Mateo JJ, Fernández A, García-Hernández S, Ramos KA, Piqueras-Flores J, Cabrera-Romero E, Barriales-Villa R, de la Higuera Romero L, Alcalá López JE, Gimeno Blanes JR, Sánchez-Porras D, Campos F, Alaminos M, Oyonarte-Ramírez JM, Álvarez M, Tercedor L, Brodehl A, Jiménez-Jáimez J2023-05-01Cardiomiopatía Hipertrófica, Cardiomiopatía restrictiva, Cardiomyopathies, Cardiomyopathy, Filamin C, Filamina C, Filaminas, Filamins, Hypertrophic, Miocardio en dientes de sierra, Miocardiopatía, Restrictive, Saw-tooth myocardiumRevista espanola de cardiologia (English ed.)
Druggable proteins influencing cardiac structure and function: Implications for heart failure therapies and cancer cardiotoxicity.Schmidt AF, Bourfiss M, Alasiri A, Puyol-Anton E, Chopade S, van Vugt M, van der Laan SW, Gross C, Clarkson C, Henry A, Lumbers TR, van der Harst P, Franceschini N, Bis JC, Velthuis BK, Te Riele ASJM, Hingorani AD, Ruijsink B, Asselbergs FW, van Setten J, Finan C2023-04-28Science advances
Arrhythmic risk stratification in non-ischaemic dilated cardiomyopathy.Del Mestre E, Pio Loco Detto Gava C, Paldino A, Gigli M, Rossi M, Lalario A, Dal Ferro M, Merlo M, Sinagra G2023-04-01Aetiological classification, Arrhythmic risk stratification, Non-ischaemic dilated cardiomyopathyEuropean heart journal supplements : journal of the European Society of Cardiology
Left ventricular wall thickness and severity of cardiac disease in women and men with transthyretin amyloidosis.Aimo A, Tomasoni D, Porcari A, Vergaro G, Castiglione V, Passino C, Adamo M, Bellicini MG, Lombardi CM, Nardi M, Palamara G, Varrà GG, Saro R, Allegro V, Merlo M, Sinagra G, Metra M, Emdin M, Rapezzi C2023-04-01Amyloidosis, Cut-off, Diagnosis, Gender differences, Transthyretin, Wall thicknessEuropean journal of heart failure
The importance of re-evaluating the risk score in heart failure patients: An analysis from the Metabolic Exercise Cardiac Kidney Indexes (MECKI) score database.Pezzuto B, Piepoli M, Galotta A, Sciomer S, Zaffalon D, Filomena D, Vignati C, Contini M, Alimento M, Baracchini N, Apostolo A, Palermo P, Mapelli M, Salvioni E, Carriere C, Merlo M, Papa S, Campodonico J, Badagliacca R, Sinagra G, Agostoni P2023-04-01Exercise capacity, Heart failure, Hemoglobin, Prognosis, Renal function, Risk stratificationInternational journal of cardiology
Prevalence, characteristics and outcomes of older patients with hereditary versus wild-type transthyretin amyloid cardiomyopathy.Porcari A, Razvi Y, Masi A, Patel R, Ioannou A, Rauf MU, Hutt DF, Rowczenio D, Gilbertson J, Martinez-Naharro A, Venneri L, Whelan C, Lachmann H, Wechalekar A, Quarta CC, Merlo M, Sinagra G, Hawkins PN, Fontana M, Gillmore JD2023-04-01Amyloid cardiomyopathy, Elderly, Epidemiology, Hereditary transthyretin amyloidosis, Transthyretin genetic testingEuropean journal of heart failure
Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.Copier JS, Bootsma M, Ng CA, Wilde AAM, Bertels RA, Bikker H, Christiaans I, van der Crabben SN, Hol JA, Koopmann TT, Knijnenburg J, Lommerse AAJ, van der Smagt JJ, Bezzina CR, Vandenberg JI, Verkerk AO, Barge-Schaapveld DQCM, Lodder EM2023-03-20Human molecular genetics
Invasive management of significant tricuspid regurgitation in clinical practice.Moral S, Abulí M, Méndez I, González-Gómez A, García-Quintana A, Menduiña I, Payá R, Esteban E, Sánchez PL, Díaz E, de la Morena G, Calvo-Iglesias F, Gallego P, Ballesteros E, Brugada R, Evangelista A2023-03-15Surgery, Tricuspid regurgitation, Valve heart diseaseInternational journal of cardiology
Chiari network for the interventional cardiologist: A hidden enemy at the heart gate - A systematic review of the literature.Ali H, Lupo P, Cristiano E, Nicolì L, Foresti S, De Ambroggi G, Anderson RH, De Lucia C, Turturiello D, Paganini EM, Bessi R, Farghaly AAA, Butera G, Cappato R2023-03-15Chiari network, Entrapment, Eustachian valve, Interventional cardiology, PercutaneousInternational journal of cardiology
Repeated Dose of Contrast Media and the Risk of Contrast-Induced Acute Kidney Injury in a Broad Population of Patients Hospitalized in Cardiology Department.Cichoń M, Wybraniec MT, Okoń O, Zielonka M, Antoniuk S, Szatan T, Mizia-Stec K2023-03-10CI-AKI, CIN, contrast-induced acute kidney injury, contrast-induced nephropathy, repeated contrast mediumJournal of clinical medicine
Importance of Systematic Diagnostic Testing in Idiopathic Ventricular Fibrillation: Results From the Dutch iVF Registry.Groeneveld SA, Verheul LM, van der Ree MH, Mulder BA, Scholten MF, Alings M, van der Voort P, Bootsma M, Evertz R, Balt JC, Yap SC, Doevendans PAFM, Postema PG, Wilde AAM, Volders PGA, Hassink RJ2023-03-01diagnostic testing, idiopathic ventricular fibrillation, ventricular arrhythmiasJACC. Clinical electrophysiology
Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.Martinez-Barrios E, Sarquella-Brugada G, Perez-Serra A, Fernandez-Falgueras A, Cesar S, Alcalde M, Coll M, Puigmulé M, Iglesias A, Ferrer-Costa C, Del Olmo B, Picó F, Lopez L, Fiol V, Cruzalegui J, Hernandez C, Arbelo E, Díez-Escuté N, Cerralbo P, Grassi S, Oliva A, Toro R, Brugada J, Brugada R, Campuzano O2023-03-01Genetics, Infant, Interpretation, Pediatric, Sudden unexplained deathInternational journal of legal medicine
Addressing comorbidities in simple congenital heart disease: a critical step to achieve optimal long-term outcomes.Gallego P2023-03-01European heart journal
Transcatheter Intervention for Coarctation of the Aorta: A Nordic Population-Based Registry With Long-Term Follow-Up.Eriksson P, Pihkala J, Jensen AS, Dohlen G, Liuba P, Wahlander H, Sjoberg G, Hlebowicz J, Furenas E, Leirgul E, Settergren M, Vithessonthi K, Nielsen NE, Christersson C, Sondergaard L, Sinisalo J, Nielsen-Kudsk JE, Dellborg M, Larsen SH2023-02-27catheter intervention, coarctation of Aorta, congenital heart diseaseJACC. Cardiovascular interventions
Comparison of different technetium-99m-labelled bone tracers for imaging cardiac amyloidosis.Porcari A, Hutt DF, Grigore SF, Quigley AM, Rowczenio D, Gilbertson J, Patel R, Razvi Y, Ioannou A, Rauf MU, Martinez-Naharro A, Venneri L, Hawkins PN, Fontana M, Gillmore JD2023-02-14Bone tracers, Cardiac amyloidosis, Cardiac scintigraphy, Non-invasive diagnosisEuropean journal of preventive cardiology
Long QT Syndrome, a Diagnosis That Warrants Expert Opinion and Expert Centers.Wilde AAM, Schwartz PJ2023-02-07genetics, long QT syndromeJournal of the American College of Cardiology
Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.Tadros R, Zheng SL, Grace C, Jordà P, Francis C, Jurgens SJ, Thomson KL, Harper AR, Ormondroyd E, West DM, Xu X, Theotokis PI, Buchan RJ, McGurk KA, Mazzarotto F, Boschi B, Pelo E, Lee M, Noseda M, Varnava A, Vermeer AM, Walsh R, Amin AS, van Slegtenhorst MA, Roslin N, Strug LJ, Salvi E, Lanzani C, de Marvao A, Roberts JD, Tremblay-Gravel M, Giraldeau G, Cadrin-Tourigny J, L'Allier PL, Garceau P, Talajic M, Pinto YM, Rakowski H, Pantazis A, Baksi J, Halliday BP, Prasad SK, Barton PJ, O'Regan DP, Cook SA, de Boer RA, Christiaans I, Michels M, Kramer CM, Ho CY, Neubauer S, Matthews PM, Wilde AA, Tardif JC, Olivotto I, Adler A, Goel A, Ware JS, Bezzina CR, Watkins H2023-02-06medRxiv : the preprint server for health sciences
The TANGO2 disease and the therapeutic challenge of acute arrhythmia management: a case report.Gomes SA, Laranjo S, Trigo C, Pinto FF2023-02-01Arrhythmias, TANGO2 disease, TANGO2-related metabolic encephalopathy and arrhythmias, Torsade de Pointes, case reportEuropean heart journal. Case reports
[Rationale and significance of the Italian Network for Cardiac Amyloidosis].Sinagra G, Emdin M, Merlo M, Vergaro G, Aimo A, Biagini E, Imazio M, Porcari A, Limongelli G, Cipriani A, Canepa M, Musumeci B, Cameli M, Crotti L, Di Bella G, Di Lenarda A, Cappelli F, Chimenti C, Obici L, Iacoviello M, Perlini S, Pieroni M, Metra M, Oliva F, Perrone Filardi P, Colivicchi F, Indolfi C2023-02-01Giornale italiano di cardiologia (2006)
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.Codina-Solà M, Trujillano L, Abulí A, Rovira-Moreno E, Muñoz-Cabello P, Campos B, Fernández-Álvarez P, Palau D, Carrasco E, Valenzuela I, Cueto-González AM, Lasa-Aranzasti A, Limeres J, Leno-Colorado J, Costa-Roger M, Moles-Fernández A, Balmaña J, Díez O, Cuscó I, Garcia-Arumí E, Tizzano EF2023-02-01European journal of human genetics : EJHG
Current therapies for hypertrophic cardiomyopathy: a systematic review and meta-analysis of the literature.Bayonas-Ruiz A, Muñoz-Franco FM, Sabater-Molina M, Oliva-Sandoval MJ, Gimeno JR, Bonacasa B2023-02-01Cardiopulmonary exercise test, Functional capacity, Hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction, TherapiesESC heart failure
Remember Friedreich ataxia even in a toddler with apparently isolated dilated (not hypertrophic!) cardiomyopathy. Revisited.Baban A, Cicenia M, Travaglini L, Calì F, Vasco G, Francalanci P, Novelli A, Adorisio R, Amodeo A, Dallapiccola B, Bertini E, Drago F2023-02-01Minerva pediatrics
Molecular autopsy in sudden cardiac death.Campuzano O, Sarquella-Brugada G2023-01-30Global cardiology science & practice
Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants.Rinné S, Oertli A, Nagel C, Tomsits P, Jenewein T, Kääb S, Kauferstein S, Loewe A, Beckmann BM, Decher N2023-01-10KCNQ1, KvLQT1, LQTS, Romano-Ward syndrome, potassium channelInternational journal of molecular sciences
SCUBA Diving in Adult Congenital Heart Disease.Kauling RM, Rienks R, Cuypers JAAE, Jorstad HT, Roos-Hesselink JW2023-01-04congenital heart disease, fitness to dive, scuba divingJournal of cardiovascular development and disease
Continuitiy of care with ataluren in Duchenne Muscular Dystrophy patients with nonsense mutations after loss of ambulation. Personal experience.Spagnoli C, Adorisio R, Bello L, D'Amico A, D'Angelo MG, Pane M, Penzo M, Riguzzi P, Sansone V, Vianello A, Fusco C2023-01-01Duchenne Muscular Dystrophy, ataluren, loss of ambulation, nonsense mutationsActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Implantation of atrial flow regulator devices in patients with congenital heart disease and children with severe pulmonary hypertension or cardiomyopathy-an international multicenter case series.Butera G, Piccinelli E, Kolesnik A, Averin K, Seaman C, Castaldi B, Cuppini E, Fraisse A, Bautista-Rodriguez C, Hascoet S, D'Amore C, Baruteau AE, Blasco PB, Bianco L, Eicken A, Jones M, Kuo JA, Rajszys GB2023-01-01Fontan circulation, atrial flow regulator device, congenital heart disease, extracorporeal membrane oxygenation, pulmonary hypertensionFrontiers in cardiovascular medicine
A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans-A cohort study.Vodnjov N, Toplišek J, Maver A, Čuturilo G, Jaklič H, Teran N, Višnjar T, Škrjanec Pušenjak M, Hodžić A, Miljanović O, Peterlin B, Writzl K2023-01-01PloS one
Standardising Care and Treatment of Transthyretin Amyloid Cardiomyopathy.Fontana M, Porcari A, Hawkins PN2023-01-01Cardiac Amyloidosis, Diagnosis, Prognosis, Transthyretin, TreatmentGlobal heart
Antiarrhythmic drugs for pharmacological cardioversion of atrial fibrillation and sex differences: Insights from the CANT II Study.Wybraniec MT, Maciąg A, Miśkowiec D, Ceynowa-Sielawko B, Balsam P, Wójcik M, Wróbel W, Farkowski M, Ćwiek-Rębowska E, Szołkiewicz M, Ozierański K, Błaszczyk R, Bula K, Dembowski T, Peller M, Krzowski B, Wyganowska-Kapryan A, Wańha W, Koziński M, Kasprzak JD, Szwed H, Mizia-Stec K2023-01-01amiodarone, antazoline, atrial fibrillation, pharmacological cardioversion propafenone, sex differencesKardiologia polska
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.Heliö K, Cicerchia M, Hathaway J, Tommiska J, Huusko J, Saarinen I, Koskinen L, Muona M, Kytölä V, Djupsjöbacka J, Gentile M, Salmenperä P, Alastalo TP, Steinberg C, Heliö T, Paananen J, Myllykangas S, Koskenvuo J2023-01-01cardiomyopathy, diagnostic yield, dilated cardiomyopathy, genetic testing, next generation sequencingFrontiers in cardiovascular medicine
Clinical characteristics and risk factors of in-hospital mortality among patients undergoing percutaneous pericardiocentesis.Wybraniec MT, Kampka Z, Drabczyk M, Zielonka M, Urbaniec P, Wypych G, Cichoń M, Szatan T, Jastrzębski P, Mizia-Stec K2023-01-01cardiac tamponade, in-hospital mortality, pericardiocentesis, pericarditis, registryFrontiers in cardiovascular medicine
Editorial: Proceedings and predictions in cardiac amyloidosis: unsolved mysteries and challenges for the future.Porcari A, Sinagra G, Gillmore JD2023-01-01amyloidosis, light chain (AL) amyloidosis, prognosis, transthyretin, treatmentsFrontiers in medicine
Electrocardiogram analysis in Anderson-Fabry disease: a valuable tool for progressive phenotypic expression tracking.Parisi V, Baldassarre R, Ferrara V, Ditaranto R, Barlocco F, Lillo R, Re F, Marchi G, Chiti C, Di Nicola F, Catalano C, Barile L, Schiavo MA, Ponziani A, Saturi G, Caponetti AG, Berardini A, Graziosi M, Pasquale F, Salamon I, Ferracin M, Nardi E, Capelli I, Girelli D, Gimeno Blanes JR, Biffi M, Galiè N, Olivotto I, Graziani F, Biagini E2023-01-01Anderson-Fabry disease, ECG pattern, bundle branch block, cardiac involvement, electrocardiogram (ECG), left ventricular hyperertrophy, repolarization abnormalitiesFrontiers in cardiovascular medicine
Final farewell to Claudio Rapezzi: observation, deduction and knowledge in medicine.Porcari A, Sinagra G, Quarta CC, Fontana M, Gillmore JD2023-01-01amyloidosis, cardiology, diagnosis, in memoriam, mentorFrontiers in cardiovascular medicine
LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.Cesar S, Coll M, Fiol V, Fernandez-Falgueras A, Cruzalegui J, Iglesias A, Moll I, Perez-Serra A, Martínez-Barrios E, Ferrer-Costa C, Del Olmo B, Puigmulè M, Alcalde M, Lopez L, Pico F, Berrueco R, Brugada J, Zschaeck I, Natera-de Benito D, Carrera-García L, Exposito-Escudero J, Ortez C, Nascimento A, Brugada R, Sarquella-Brugada G, Campuzano O2023-01-01genetic diagnostic, genetics, laminopathies, muscular dystrophy, sudden cardiac deathFrontiers in genetics
DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma.Heliö K, Brandt E, Vaara S, Weckström S, Harjama L, Kandolin R, Järviö J, Hannula-Jouppi K, Heliö T, Holmström M, Koskenvuo JW2023-01-01CMR, DSP, arrhythmogenic cardiomyopathy, cardiomyopathy, myocarditis, palmoplantar keratodermaFrontiers in cardiovascular medicine
Screening approaches to cardiac amyloidosis in different clinical settings: Current practice and future perspectives.Caponetti AG, Accietto A, Saturi G, Ponziani A, Sguazzotti M, Massa P, Giovannetti A, Ditaranto R, Parisi V, Leone O, Guaraldi P, Cortelli P, Gagliardi C, Longhi S, Galiè N, Biagini E2023-01-01AL, ATTR, aortic stenosis, cardiac amyloidosis, heart failure, nuclear medicine, screeningFrontiers in cardiovascular medicine
Characterization of cardiac involvement in children with LMNA-related muscular dystrophy.Cesar S, Campuzano O, Cruzalegui J, Fiol V, Moll I, Martínez-Barrios E, Zschaeck I, Natera-de Benito D, Ortez C, Carrera L, Expósito J, Berrueco R, Bautista-Rodriguez C, Dabaj I, Gómez García-de-la-Banda M, Quijano-Roy S, Brugada J, Nascimento A, Sarquella-Brugada G2023-01-01A/C lamins, LMNA-related cardiomyopathy, LMNA-related diseases, cardiomyopathy, laminopathies, long-term implantable loop recorder, sudden cardiac deathFrontiers in cell and developmental biology
Unicuspid aortic valve: More data and more doubts in the light of six years of follow-up observation.Niemiec M, Gruchlik B, Zarzecki J, Wojnicz R, Mizia-Stec K2023-01-01Kardiologia polska
Device-related complications in subcutaneous versus transvenous ICD: a secondary analysis of the PRAETORIAN trial.Knops RE, Pepplinkhuizen S, Delnoy PPHM, Boersma LVA, Kuschyk J, El-Chami MF, Bonnemeier H, Behr ER, Brouwer TF, Kaab S, Mittal S, Quast ABE, van der Stuijt W, Smeding L, de Veld JA, Tijssen JGP, Bijsterveld NR, Richter S, Brouwer MA, de Groot JR, Kooiman KM, Lambiase PD, Neuzil P, Vernooy K, Alings M, Betts TR, Bracke FALE, Burke MC, de Jong JSSG, Wright DJ, Jansen WPJ, Whinnett ZI, Nordbeck P, Knaut M, Philbert BT, van Opstal JM, Chicos AB, Allaart CP, Borger van der Burg AE, Dizon JM, Miller MA, Nemirovsky D, Surber R, Upadhyay GA, Weiss R, de Weger A, Wilde AAM, Olde Nordkamp LRA2022-12-14Complications, Infections, Invasive interventions, Lead-related complications, Subcutaneous ICD, Transvenous ICDEuropean heart journal
The heart in RASopathies.Delogu AB, Limongelli G, Versacci P, Adorisio R, Kaski JP, Blandino R, Maiolo S, Monda E, Putotto C, De Rosa G, Chatfield KC, Gelb BD, Calcagni G2022-12-01Costello syndrome, Noonan syndrome, Noonan syndrome with multiple lentigines, RASopathy, cardio-facio-cutaneous syndrome, congenital heart diseaseAmerican journal of medical genetics. Part C, Seminars in medical genetics
Restrictive cardiomyopathy: definition and diagnosis.Rapezzi C, Aimo A, Barison A, Emdin M, Porcari A, Linhart A, Keren A, Merlo M, Sinagra G2022-12-01Amyloidosis, Classification, Myocardial disease, RCM, Restrictive cardiomyopathyEuropean heart journal
Heart failure and the risk of left atrial thrombus formation in patients with atrial fibrillation or atrial flutter.Wybraniec MT, Mizia-Szubryt M, Cichoń M, Wrona-Kolasa K, Kapłon-Cieślicka A, Gawałko M, Budnik M, Uziębło-Życzkowska B, Krzesiński P, Starzyk K, Gorczyca-Głowacka I, Daniłowicz-Szymanowicz L, Kaufmann D, Wójcik M, Błaszczyk R, Hiczkiewicz J, Łojewska K, Kosmalska K, Fijałkowski M, Szymańska A, Wiktorska A, Haberka M, Kucio M, Michalski B, Kupczyńska K, Tomaszuk-Kazberuk A, Wilk-Śledziewska K, Wachnicka-Truty R, Koziński M, Burchardt P, Mizia-Stec K2022-12-01Atrial fibrillation, Atrial flutter, Heart failure, Left atrial thrombus, Transoesophageal echocardiographyESC heart failure
Sex differences in natural history of cardiovascular magnetic resonance- and biopsy-proven lymphocytic myocarditis.Castrichini M, Porcari A, Baggio C, Gagno G, Maione D, Barbati G, Medo K, Mestroni L, Merlo M, Sinagra G2022-12-01Epidemiology, Myocarditis, Prognosis, Sex differencesESC heart failure
COVID-19 vaccination in patients with long QT syndrome.Wu CI, Schwartz PJ, Ackerman MJ, Wilde AAM2022-12-01COVID-19, Inherited cardiac arrhythmias, Long QT syndrome, SARS-CoV-2, VaccinationsHeart rhythm O2
Balloon-Expandable Valve Implantation in a Systemic Tricuspid Valve With Annular Calcification Using 3D CT Overlay.d'Aiello AF, De Marco F, Ferrero P, Pasqualin G, Di Dedda U, Giamberti A, Maria DM, Chessa M2022-11-283D CT overlay, balloon-expandable valve, ccTGA, first in TAC, valve in TACJACC. Cardiovascular interventions
Prognostic Prediction of Genotype vs Phenotype in Genetic Cardiomyopathies.Paldino A, Dal Ferro M, Stolfo D, Gandin I, Medo K, Graw S, Gigli M, Gagno G, Zaffalon D, Castrichini M, Masè M, Cannatà A, Brun F, Storm G, Severini GM, Lenarduzzi S, Girotto G, Gasparini P, Bortolotti F, Giacca M, Zacchigna S, Merlo M, Taylor MRG, Mestroni L, Sinagra G2022-11-22ALVC, ARVC, DCM, genotype, pathogenic/likely pathogenic variants, phenotypeJournal of the American College of Cardiology
Heart Failure with Improved Ejection Fraction: Insight into the Variable Nature of Left Ventricular Systolic Function.Wybraniec MT, Orszulak M, Męcka K, Mizia-Stec K2022-11-03HFiEF, HFimpEF, HFrecEF, heart failure with improved ejection fraction, heart failure with recovered ejection fractionInternational journal of environmental research and public health
Cardiology of the future: xenotransplantation with porcine heart.Sinagra G, Pagura L, Radesich C, Gagno G, Cannata' A, Barbisan D, Cittar M, Paldino A, Perotto M, Mase' M, Dal Ferro M, Mazzaro E, Merlo M2022-11-01Genetic engineering, Heart failure refractory to medical therapy, Heart xenotransplantationEuropean heart journal supplements : journal of the European Society of Cardiology
Longitudinal Prediction of Ventricular Arrhythmic Risk in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy.Carrick RT, Te Riele ASJM, Gasperetti A, Bosman L, Muller SA, Pendleton C, Tichnell C, Murray B, Yap SC, van den Berg MP, Wilde A, Zeppenfeld K, Hays A, Zimmerman SL, Tandri H, Cadrin-Tourigny J, van Tintelen P, Calkins H, James CA, Wu KC2022-11-01cardiac, cardiomyopathy, death, defibrillator, implantable, risk factors, sudden, tachycardiaCirculation. Arrhythmia and electrophysiology
[The Regional Registry of Sudden Cardiac Death of Friuli Venezia Giulia. Protocols, best practices and results of a multidisciplinary project].D'Errico S, Bergamini PR, Fattorini P, Zanconati F, Bussani R, Cova MA, Pagnan L, Belgrano M, Gasparini P, Girotto G, Lenarduzzi S, Addobbati R, Rakar S, Aleksova A, Dal Ferro M, Zecchin M, Sinagra G2022-11-01Giornale italiano di cardiologia (2006)
Phospholamban Cardiomyopathy: Unveiling a Distinct Phenotype Through Heart Failure Stages Progression.Parisi V, Chiti C, Graziosi M, Pasquale F, Ditaranto R, Minnucci M, Biffi M, Potena L, Girolami F, Baldovini C, Leone O, Galiè N, Biagini E2022-11-01cardiomyopathy, coronary artery disease, death, sudden, cardiac, gadolinium, hypertrophyCirculation. Cardiovascular imaging
Should variants of unknown significance (VUS) be disclosed to patients in cardiogenetics or not; only in case of high suspicion of pathogenicity?van der Crabben SN, Mörner S, Lundström AC, Jonasson J, Bikker H, Amin AS, Rydberg A, Wilde AAM2022-11-01European journal of human genetics : EJHG
2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death.Zeppenfeld K, Tfelt-Hansen J, de Riva M, Winkel BG, Behr ER, Blom NA, Charron P, Corrado D, Dagres N, de Chillou C, Eckardt L, Friede T, Haugaa KH, Hocini M, Lambiase PD, Marijon E, Merino JL, Peichl P, Priori SG, Reichlin T, Schulz-Menger J, Sticherling C, Tzeis S, Verstrael A, Volterrani M2022-10-21Anti-arrhythmic drugs, Cardiac magnetic resonance, Cardiomyopathies, Catheter ablation, Chronic coronary artery disease, Genetic testing, Guidelines, Implantable cardioverter defibrillator, Premature ventricular complex, Primary electrical disease, Recommendations, Risk calculator, Risk stratification, Sudden cardiac death, Sudden death, Ventricular arrhythmia, Ventricular fibrillation, Ventricular tachycardiaEuropean heart journal
Eosinophilic Infiltration of the Sino-Atrial Node in Sudden Cardiac Death Caused by Long QT Syndrome.Grassi S, Campuzano O, Coll M, Cazzato F, Iglesias A, Ausania F, Scarnicci F, Sarquella-Brugada G, Brugada J, Arena V, Oliva A, Brugada R2022-10-01eosinophilic inflammatory focus, forensic autopsy, post-mortem genetic testing, sino-atrial node, sudden cardiac deathInternational journal of molecular sciences
Indications and utility of cardiac genetic testing in athletes.Castelletti S, Gray B, Basso C, Behr ER, Crotti L, Elliott PM, Gonzalez Corcia CM, D'Ascenzi F, Ingles J, Loeys B, Pantazis A, Pieles GE, Saenen J, Sarquella Brugada G, Sanz de la Garza M, Sharma S, Van Craenebroek EM, Wilde A, Papadakis M2022-09-07Athletes, Cardiomyopathies, Channelopathies, Genetic testing, Inherited cardiac conditions, Sudden cardiac deathEuropean journal of preventive cardiology
Increased Body Mass Index and Risk of Left Atrial Thrombus in Nonvalvular Atrial Fibrillation Patients-Data from the Left Atrial Thrombus on Transesophageal Echocardiography (LATTEE) Registry.Uziębło-Życzkowska B, Kapłon-Cieślicka A, Kiliszek M, Gawałko M, Budnik M, Starzyk K, Wożakowska-Kapłon B, Daniłowicz-Szymanowicz L, Kaufmann D, Wójcik M, Błaszczyk R, Hiczkiewicz J, Łojewska K, Mizia-Stec K, Wybraniec MT, Kosmalska K, Fijałkowski M, Szymańska A, Gos A, Haberka M, Kucio M, Michalski B, Kupczyńska K, Tomaszuk-Kazberuk A, Wilk-Śledziewska K, Wachnicka-Truty R, Koziński M, Burchardt P, Krzesiński P2022-09-04atrial fibrillation, atrial flutter, body mass index, left atrial thrombusNutrients
[Ten questions about transthyretin amyloidosis].Giovannetti A, Accietto A, Massa P, Leone O, Guaraldi P, Saturi G, Caponetti AG, Sguazzotti M, Ponziani A, Gagliardi C, Galiè N, Cortelli P, Longhi S, Biagini E2022-09-01Giornale italiano di cardiologia (2006)
[Comparing guidelines for heart failure: AHA 2022 versus ESC 2021].Sinagra G, Pagura L, Stolfo D2022-09-01Giornale italiano di cardiologia (2006)
Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator.Protonotarios A, Bariani R, Cappelletto C, Pavlou M, García-García A, Cipriani A, Protonotarios I, Rivas A, Wittenberg R, Graziosi M, Xylouri Z, Larrañaga-Moreira JM, de Luca A, Celeghin R, Pilichou K, Bakalakos A, Lopes LR, Savvatis K, Stolfo D, Dal Ferro M, Merlo M, Basso C, Freire JL, Rodriguez-Palomares JF, Kubo T, Ripoll-Vera T, Barriales-Villa R, Antoniades L, Mogensen J, Garcia-Pavia P, Wahbi K, Biagini E, Anastasakis A, Tsatsopoulou A, Zorio E, Gimeno JR, Garcia-Pinilla JM, Syrris P, Sinagra G, Bauce B, Elliott PM2022-08-21Arrhythmogenic right ventricular cardiomyopathy, Genotype, Risk stratification, Sudden cardiac death, Ventricular arrhythmiaEuropean heart journal
Arrhythmic risk prediction in arrhythmogenic right ventricular cardiomyopathy: external validation of the arrhythmogenic right ventricular cardiomyopathy risk calculator.Jordà P, Bosman LP, Gasperetti A, Mazzanti A, Gourraud JB, Davies B, Frederiksen TC, Weidmann ZM, Di Marco A, Roberts JD, MacIntyre C, Seifer C, Delinière A, Alqarawi W, Kukavica D, Minois D, Trancuccio A, Arnaud M, Targetti M, Martino A, Oliviero G, Pipilas DC, Carbucicchio C, Compagnucci P, Dello Russo A, Olivotto I, Calò L, Lubitz SA, Cutler MJ, Chevalier P, Arbelo E, Priori SG, Healey JS, Calkins H, Casella M, Jensen HK, Tondo C, Tadros R, James CA, Krahn AD, Cadrin-Tourigny J2022-08-21Arrhythmogenic right ventricular cardiomyopathy, Genetic cardiomyopathies, Implantable cardioverter-defibrillator, Risk stratification, Sudden cardiac death, Ventricular arrhythmiasEuropean heart journal
Impact of SARS-Cov-2 infection in patients with hypertrophic cardiomyopathy: results of an international multicentre registry.Gimeno JR, Olivotto I, Rodríguez AI, Ho CY, Fernández A, Quiroga A, Espinosa MA, Gómez-González C, Robledo M, Tojal-Sierra L, Day SM, Owens A, Barriales-Villa R, Larrañaga JM, Rodríguez-Palomares J, González-Del-Hoyo M, Piqueras-Flores J, Reza N, Chumakova O, Ashley EA, Parikh V, Wheeler M, Jacoby D, Pereira AC, Saberi S, Helms AS, Villacorta E, Gallego-Delgado M, de Castro D, Domínguez F, Ripoll-Vera T, Zorio-Grima E, Sánchez-Martínez JC, García-Álvarez A, Arbelo E, Mogollón MV, Fuentes-Cañamero ME, Grande E, Peña C, Monserrat L, Lakdawala NK2022-08-01COVID‐19, Heart failure, Hypertrophic cardiomyopathy, Prognosis, Registry, SARS‐CoV‐2 infectionESC heart failure
Structural Heart Alterations in Brugada Syndrome: Is it Really a Channelopathy? A Systematic Review.Oliva A, Grassi S, Pinchi V, Cazzato F, Coll M, Alcalde M, Vallverdú-Prats M, Perez-Serra A, Martínez-Barrios E, Cesar S, Iglesias A, Cruzalegui J, Hernández C, Fiol V, Arbelo E, Díez-Escuté N, Arena V, Brugada J, Sarquella-Brugada G, Brugada R, Campuzano O2022-07-28Brugada syndrome, endomyocardial biopsy, forensic pathology, histopathology, sudden cardiac deathJournal of clinical medicine
Three-dimensional printing, holograms, computational modelling, and artificial intelligence for adult congenital heart disease care: an exciting future.Chessa M, Van De Bruaene A, Farooqi K, Valverde I, Jung C, Votta E, Sturla F, Diller GP, Brida M, Sun Z, Little SH, Gatzoulis MA2022-07-213D printing, Adult with congenital heart defect, Artificial intelligence, Augmented reality, Computational modelling, Virtual realityEuropean heart journal
Aortic pseudoaneurysm on coronary angiography as a cause of complete atrio-ventricular block in COVID-19 patient.Wybraniec MT, Gocoł R, Wróbel W, Cichoń M, Mizia-Stec K2022-07-21European heart journal. Cardiovascular Imaging
Programmed electrophysiological stimulation for risk prediction in patients with Brugada syndrome: closing time?Mazzanti A, Trancuccio A, Priori SG2022-07-01Revista espanola de cardiologia (English ed.)
Validation of multiparametric approaches for the prediction of sudden cardiac death in patients with Brugada syndrome and electrophysiological study.Rodríguez-Mañero M, Baluja A, Hernández J, Muñoz C, Calvo D, Fernández-Armenta J, García-Fernández A, Zorio E, Arce-León Á, Sánchez-Gómez JM, Mosquera-Pérez I, Arias MÁ, Díaz-Infante E, Expósito V, Jiménez-Ramos V, Teijeira E, Cañadas-Godoy MV, Guerra-Ramos JM, Oloriz T, Basterra N, Sousa P, Elices-Teja J, García-Bolao I, González-Juanatey JR, Brugada R, Gimeno JR, Brugada J, Arbelo E2022-07-01Brugada syndrome, Desfibrilador automático implantable, Electrophysiologic study, Estudio electrofisiológico, Implantable cardioverter-defibrillator, Síndrome de BrugadaRevista espanola de cardiologia (English ed.)
Myocarditis or inherited disease? - The multifaceted presentation of arrhythmogenic cardiomyopathy.Westphal DS, Krafft H, Biller R, Klingel K, Gaa J, Mueller CS, Martens E2022-06-15ARVC, Arrhythmogenic cardiomyopathy, DSP, MyocarditisGene
Diagnosis and Management of Rare Cardiomyopathies in Adult and Paediatric Patients. A Position Paper of the Italian Society of Cardiology (SIC) and Italian Society of Paediatric Cardiology (SICP).Limongelli G, Adorisio R, Baggio C, Bauce B, Biagini E, Castelletti S, Favilli S, Imazio M, Lioncino M, Merlo M, Monda E, Olivotto I, Parisi V, Pelliccia F, Basso C, Sinagra G, Indolfi C, Autore C2022-06-15Cardiomyopathy, Diagnosis, Management, Rare cardiovascular diseaseInternational journal of cardiology
European Reference Network for rare, low prevalence, or complex diseases of the heart (ERN GUARD-Heart): 5 year anniversary.Amin AS, Biller R, Charron P, Wilde AAM2022-06-14European heart journal
Familial Recurrence Patterns in Congenitally Corrected Transposition of the Great Arteries: An International Study.Tortigue M, Nield LE, Karakachoff M, McLeod CJ, Belli E, Babu-Narayan SV, Prigent S, Boet A, Conway M, Elder RW, Ladouceur M, Khairy P, Kowalik E, Kalfa DM, Barron DJ, Mussa S, Hiippala A, Temple J, Abadir S, Le Gloan L, Lachaud M, Sanatani S, Thambo JB, Gronier CG, Amedro P, Vaksmann G, Charbonneau A, Koutbi L, Ovaert C, Houeijeh A, Combes N, Maury P, Duthoit G, Hiel B, Erickson CC, Bonnet C, Van Hare GF, Dina C, Karsenty C, Fournier E, Le Bloa M, Pass RH, Liberman L, Happonen JM, Perry JC, Romefort B, Benbrik N, Hauet Q, Fraisse A, Gatzoulis MA, Abrams DJ, Dubin AM, Ho SY, Redon R, Bacha EA, Schott JJ, Baruteau AE2022-06-01aorta, arteries, heterotaxy syndrome, mitral valve, rare diseaseCirculation. Genomic and precision medicine
Oncogenesis in patients with congenital heart disease: A possible role of the neural crest.Ferrero P, Piazza I, Giamberti A, Chessa M2022-05-01Cancer, congenital heart disease, neural crest, oncogenesisAnnals of pediatric cardiology
Congenital Long QT Syndrome.Krahn AD, Laksman Z, Sy RW, Postema PG, Ackerman MJ, Wilde AAM, Han HC2022-05-01arrhythmia, inherited, sudden deathJACC. Clinical electrophysiology
Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.Barc J, Tadros R, Glinge C, Chiang DY, Jouni M, Simonet F, Jurgens SJ, Baudic M, Nicastro M, Potet F, Offerhaus JA, Walsh R, Choi SH, Verkerk AO, Mizusawa Y, Anys S, Minois D, Arnaud M, Duchateau J, Wijeyeratne YD, Muir A, Papadakis M, Castelletti S, Torchio M, Ortuño CG, Lacunza J, Giachino DF, Cerrato N, Martins RP, Campuzano O, Van Dooren S, Thollet A, Kyndt F, Mazzanti A, Clémenty N, Bisson A, Corveleyn A, Stallmeyer B, Dittmann S, Saenen J, Noël A, Honarbakhsh S, Rudic B, Marzak H, Rowe MK, Federspiel C, Le Page S, Placide L, Milhem A, Barajas-Martinez H, Beckmann BM, Krapels IP, Steinfurt J, Winkel BG, Jabbari R, Shoemaker MB, Boukens BJ, Škorić-Milosavljević D, Bikker H, Manevy F, Lichtner P, Ribasés M, Meitinger T, Müller-Nurasyid M, Veldink JH, van den Berg LH, Van Damme P, Cusi D, Lanzani C, Rigade S, Charpentier E, Baron E, Bonnaud S, Lecointe S, Donnart A, Le Marec H, Chatel S, Karakachoff M, Bézieau S, London B, Tfelt-Hansen J, Roden D, Odening KE, Cerrone M, Chinitz LA, Volders PG, van de Berg MP, Laurent G, Faivre L, Antzelevitch C, Kääb S, Arnaout AA, Dupuis JM, Pasquie JL, Billon O, Roberts JD, Jesel L, Borggrefe M, Lambiase PD, Mansourati J, Loeys B, Leenhardt A, Guicheney P, Maury P, Schulze-Bahr E, Robyns T, Breckpot J, Babuty D, Priori SG, Napolitano C, de Asmundis C, Brugada P, Brugada R, Arbelo E, Brugada J, Mabo P, Behar N, Giustetto C, Molina MS, Gimeno JR, Hasdemir C, Schwartz PJ, Crotti L, McKeown PP, Sharma S, Behr ER, Haissaguerre M, Sacher F, Rooryck C, Tan HL, Remme CA, Postema PG, Delmar M, Ellinor PT, Lubitz SA, Gourraud JB, Tanck MW, George AL, MacRae CA, Burridge PW, Dina C, Probst V, Wilde AA, Schott JJ, Redon R, Bezzina CR2022-05-01Nature genetics
Outcomes of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia Treated With β-Blockers.Mazzanti A, Kukavica D, Trancuccio A, Memmi M, Bloise R, Gambelli P, Marino M, Ortíz-Genga M, Morini M, Monteforte N, Giordano U, Keegan R, Tomasi L, Anastasakis A, Davis AM, Shimizu W, Blom NA, Santiago DJ, Napolitano C, Monserrat L, Priori SG2022-05-01JAMA cardiology
Health-related quality of life in Italian children and adolescents with congenital heart diseases.Amodeo G, Ragni B, Calcagni G, Piga S, Giannico S, Yammine ML, Drago F, Ciofi Degli Atti ML, Rossi A, De Stasio S, Grimaldi Capitello T2022-04-15Congenital heart diseases, Health-related quality of life, Pediatric heart diseases, Quality of lifeBMC cardiovascular disorders
Pediatric Left Posteroseptal Accessory Pathway Ablation from Giant Coronary Sinus with Persistent Left Superior Cava.Cruzalegui J, Cesar S, Campuzano O, Fiol V, Brugada J, Sarquella-Brugada G2022-04-06Wolff-Parkinson-White, coronary sinus, pediatric accessory pathway, persistent left superior vena cava, radiofrequency ablationJournal of cardiovascular development and disease
Arrhythmogenic Right Ventricular Cardiomyopathy.Krahn AD, Wilde AAM, Calkins H, La Gerche A, Cadrin-Tourigny J, Roberts JD, Han HC2022-04-01cardiomyopathy, inherited, sudden death, ventricular arrhythmiaJACC. Clinical electrophysiology
Koch's triangle voltage mapping for cryoablation of slow pathway in children: preliminary data of a novel high-density technique.Drago F, Tamborrino PP, Porco L, Campisi M, Fanti V, Annibali R, Silvetti MS2022-04-013D high-density mapping, Atrioventricular nodal reentry tachycardia, Children, CryoablationJournal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing
First Steps of Population Genomic Medicine in the Arrhythmia World: Pros and Cons.Walsh R, Bezzina C, Wilde AAM2022-03-22Editorials, arrhythmias, genetics, sudden cardiac deathCirculation
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.Barc J, Tadros R, Glinge C, Chiang DY, Jouni M, Simonet F, Jurgens SJ, Baudic M, Nicastro M, Potet F, Offerhaus JA, Walsh R, Choi SH, Verkerk AO, Mizusawa Y, Anys S, Minois D, Arnaud M, Duchateau J, Wijeyeratne YD, Muir A, Papadakis M, Castelletti S, Torchio M, Ortuño CG, Lacunza J, Giachino DF, Cerrato N, Martins RP, Campuzano O, Van Dooren S, Thollet A, Kyndt F, Mazzanti A, Clémenty N, Bisson A, Corveleyn A, Stallmeyer B, Dittmann S, Saenen J, Noël A, Honarbakhsh S, Rudic B, Marzak H, Rowe MK, Federspiel C, Le Page S, Placide L, Milhem A, Barajas-Martinez H, Beckmann BM, Krapels IP, Steinfurt J, Winkel BG, Jabbari R, Shoemaker MB, Boukens BJ, Škorić-Milosavljević D, Bikker H, Manevy F, Lichtner P, Ribasés M, Meitinger T, Müller-Nurasyid M, Veldink JH, van den Berg LH, Van Damme P, Cusi D, Lanzani C, Rigade S, Charpentier E, Baron E, Bonnaud S, Lecointe S, Donnart A, Le Marec H, Chatel S, Karakachoff M, Bézieau S, London B, Tfelt-Hansen J, Roden D, Odening KE, Cerrone M, Chinitz LA, Volders PG, van de Berg MP, Laurent G, Faivre L, Antzelevitch C, Kääb S, Arnaout AA, Dupuis JM, Pasquie JL, Billon O, Roberts JD, Jesel L, Borggrefe M, Lambiase PD, Mansourati J, Loeys B, Leenhardt A, Guicheney P, Maury P, Schulze-Bahr E, Robyns T, Breckpot J, Babuty D, Priori SG, Napolitano C, de Asmundis C, Brugada P, Brugada R, Arbelo E, Brugada J, Mabo P, Behar N, Giustetto C, Molina MS, Gimeno JR, Hasdemir C, Schwartz PJ, Crotti L, McKeown PP, Sharma S, Behr ER, Haissaguerre M, Sacher F, Rooryck C, Tan HL, Remme CA, Postema PG, Delmar M, Ellinor PT, Lubitz SA, Gourraud JB, Tanck MW, George AL, MacRae CA, Burridge PW, Dina C, Probst V, Wilde AA, Schott JJ, Redon R, Bezzina CR2022-03-01Nature genetics
8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revision.Cicenia M, Alesi V, Orlando V, Magliozzi M, Di Tommaso S, Iodice FG, Pompei E, Toscano A, Digilio MC, Drago F, Novelli A, Baban A2022-03-018p23.1 deletion, congenital heart disease, hypertrabeculation, intellectual disability, non-compact left ventricleAmerican journal of medical genetics. Part A
Genetic evaluation in athletes and cascade family screening: reply.Limongelli G, Monda E, Nunziato M, Salvatore F2022-02-19European journal of preventive cardiology
Primary systemic sclerosis heart involvement: A systematic literature review and preliminary data-driven, consensus-based WSF/HFA definition.Bruni C, Buch MH, Furst DE, De Luca G, Djokovic A, Dumitru RB, Giollo A, Polovina M, Steelandt A, Bratis K, Suliman YA, Milinkovic I, Baritussio A, Hasan G, Xintarakou A, Isomura Y, Markousis-Mavrogenis G, Tofani L, Mavrogeni S, Gargani L, Caforio AL, Tschöpe C, Ristic A, Klingel K, Plein S, Behr ER, Allanore Y, Kuwana M, Denton CP, Khanna D, Krieg T, Marcolongo R, Galetti I, Zanatta E, Tona F, Seferovic P, Matucci-Cerinic M2022-02-01Systemic sclerosis, cardiac involvement, definition, heartJournal of scleroderma and related disorders
An International Multicenter Cohort Study on β-Blockers for the Treatment of Symptomatic Children With Catecholaminergic Polymorphic Ventricular Tachycardia.Peltenburg PJ, Kallas D, Bos JM, Lieve KVV, Franciosi S, Roston TM, Denjoy I, Sorensen KB, Ohno S, Roses-Noguer F, Aiba T, Maltret A, LaPage MJ, Atallah J, Giudicessi JR, Clur SB, Blom NA, Tanck M, Extramiana F, Kato K, Barc J, Borggrefe M, Behr ER, Sarquella-Brugada G, Tfelt-Hansen J, Zorio E, Swan H, Kammeraad JAE, Krahn AD, Davis A, Sacher F, Schwartz PJ, Roberts JD, Skinner JR, van den Berg MP, Kannankeril PJ, Drago F, Robyns T, Haugaa K, Tavacova T, Semsarian C, Till J, Probst V, Brugada R, Shimizu W, Horie M, Leenhardt A, Ackerman MJ, Sanatani S, van der Werf C, Wilde AAM2022-02-01atenolol, child, death, sudden, cardiac, metoprolol, nadolol, polymorphic catecholergic ventricular tachycardia, propranololCirculation
Efficacy and Safety of Appropriate Shocks and Antitachycardia Pacing in Transvenous and Subcutaneous Implantable Defibrillators: Analysis of All Appropriate Therapy in the PRAETORIAN Trial.Knops RE, van der Stuijt W, Delnoy PPHM, Boersma LVA, Kuschyk J, El-Chami MF, Bonnemeier H, Behr ER, Brouwer TF, Kääb S, Mittal S, Quast ABE, Smeding L, Tijssen JGP, Bijsterveld NR, Richter S, Brouwer MA, de Groot JR, Kooiman KM, Lambiase PD, Neuzil P, Vernooy K, Alings M, Betts TR, Bracke FALE, Burke MC, de Jong JSSG, Wright DJ, Jansen WPJ, Whinnet ZI, Nordbeck P, Knaut M, Philbert BT, van Opstal JM, Chicos AB, Allaart CP, Borger van der Burg AE, Clancy JF, Dizon JM, Miller MA, Nemirovsky D, Surber R, Upadhyay GA, Weiss R, de Weger A, Wilde AAM, Olde Nordkamp LRA2022-02-01defibrillators, implantable, electrophysiology, tachycardiaCirculation
Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?Lodato V, Parlapiano G, Calì F, Silvetti MS, Adorisio R, Armando M, El Hachem M, Romanzo A, Dionisi-Vici C, Digilio MC, Novelli A, Drago F, Raponi M, Baban A2022-01-31cardiomyopathies, children, heterogeneity, multisystemic, personalized approach, syndromesJournal of cardiovascular development and disease
Emergencies cards for neuromuscular disorders 1st Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report.Racca F, Sansone VA, Ricci F, Filosto M, Pedroni S, Mazzone E, Longhitano Y, Zanza C, Ardissone A, Adorisio R, Berardinelli A, Bondone C, Briani C, Cairello F, Carraro E, Comi GP, Crescimanno G, D'Amico A, Deiaco F, Fabiano A, Franceschi F, Mancuso M, Massè A, Messina S, Mongini T, Moroni I, Moscatelli A, Musumeci O, Navalesi P, Nigro G, Origo C, Panicucci C, Pane M, Pavone M, Pedemonte M, Pegoraro E, Piastra M, Pini A, Politano L, Previtali S, Rao F, Ricci G, Toscano A, Wolfler A, Zoccola K, Sancricca C, Nigro V, Trabacca A, Vianello A, Bruno C2022-01-01anaesthesia, cardiac complications, critical care, emergency card, neuromuscular diseases, respiratory complications, swallowing difficultiesActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Case report: Personalized transcatheter approach to mid-aortic syndrome by in vitro simulation on a 3-dimensional printed model.Giugno L, Formato GM, Chessa M, Votta E, Carminati M, Sturla F2022-01-013D printing, in vitro simulation, interventional cardiology, mid-aortic syndrome, stentingFrontiers in cardiovascular medicine
Geno- and phenotypic characteristics and clinical outcomes of CACNA1C gene mutation associated Timothy syndrome, "cardiac only" Timothy syndrome and isolated long QT syndrome 8: A systematic review.Borbás J, Vámos M, Hategan L, Hanák L, Farkas N, Szakács Z, Csupor D, Tél B, Kupó P, Csányi B, Nagy V, Komócsi A, Habon T, Hegyi P, Sepp R2022-01-01CACNA1C gene, L-type calcium channel, Timothy syndrome, long QT syndrome, mortality, mutationFrontiers in cardiovascular medicine
Risk factors for left atrial thrombus in younger patients (aged < 65 years) with atrial fibrillation or atrial flutter: Data from the multicenter left atrial thrombus on transesophageal echocardiography (LATTEE) registry.Uziȩbło-Życzkowska B, Kapłon-Cieślicka A, Gawałko M, Budnik M, Starzyk K, Wożakowska-Kapłon B, Daniłowicz-Szymanowicz L, Kaufmann D, Wójcik M, Błaszczyk R, Hiczkiewicz J, Łojewska K, Mizia-Stec K, Wybraniec M, Kosmalska K, Fijałkowski M, Szymańska A, Gos A, Haberka M, Kucio M, Michalski B, Kupczyńska K, Tomaszuk-Kazberuk A, Wilk-Śledziewska K, Wachnicka-Truty R, Koziński M, Burchardt P, Krzesiński P2022-01-01atrial fibrillation, left atrial thrombus, thromboembolic risk factors, transesophageal echocardiography, young age groupFrontiers in cardiovascular medicine
An expert opinion of the Polish Cardiac Society Working Group on Pulmonary Circulation on screening for chronic thromboembolic pulmonary hypertension patients after acute pulmonary embolism: Update.Ciurzyński M, Kurzyna M, Kopeć G, Błaszczak P, Chrzanowski Ł, Kamiński K, Mizia-Stec K, Mularek-Kubzdela T, Biederman A, Zieliński D, Pruszczyk P, Torbicki A, Mroczek E2022-01-01acute pulmonary embolism, chronic thromboembolic pulmonary hypertension, computed tomography pulmonary angiography, diagnostic algorithm, echocardiographyKardiologia polska
Polymorphisms in ACE, ACE2, AGTR1 genes and severity of COVID-19 disease.Sabater Molina M, Nicolás Rocamora E, Bendicho AI, Vázquez EG, Zorio E, Rodriguez FD, Gil Ortuño C, Rodríguez AI, Sánchez-López AJ, Jara Rubio R, Moreno-Docón A, Marcos PJ, García Pavía P, Villa RB, Gimeno Blanes JR2022-01-01PloS one
Rare Cardiovascular Diseases: From Genetics to Personalized Medicine.Limongelli G, Monda E, Lioncino M, Bossone E2022-01-01Heart failure clinics
Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management.Lioncino M, Monda E, Verrillo F, Moscarella E, Calcagni G, Drago F, Marino B, Digilio MC, Putotto C, Calabrò P, Russo MG, Roberts AE, Gelb BD, Tartaglia M, Limongelli G2022-01-01Cardio-facio.cutaneous, Costello, Hypertrophic cardiomyopathy, LEOPARD, Noonan, RASopathiesHeart failure clinics
Clinical and Functional Characterization of Ryanodine Receptor 2 Variants Implicated in Calcium-Release Deficiency Syndrome.Roston TM, Wei J, Guo W, Li Y, Zhong X, Wang R, Estillore JP, Peltenburg PJ, Noguer FRI, Till J, Eckhardt LL, Orland KM, Hamilton R, LaPage MJ, Krahn AD, Tadros R, Vinocur JM, Kallas D, Franciosi S, Roberts JD, Wilde AAM, Jensen HK, Sanatani S, Chen SRW2022-01-01JAMA cardiology
Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality.Nakanishi T, Pigazzini S, Degenhardt F, Cordioli M, Butler-Laporte G, Maya-Miles D, Bujanda L, Bouysran Y, Niemi ME, Palom A, Ellinghaus D, Khan A, Martínez-Bueno M, Rolker S, Amitrano S, Roade Tato L, Fava F, Spinner CD, Prati D, Bernardo D, Garcia F, Darcis G, Fernández-Cadenas I, Holter JC, Banales JM, Frithiof R, Kiryluk K, Duga S, Asselta R, Pereira AC, Romero-Gómez M, Nafría-Jiménez B, Hov JR, Migeotte I, Renieri A, Planas AM, Ludwig KU, Buti M, Rahmouni S, Alarcón-Riquelme ME, Schulte EC, Franke A, Karlsen TH, Valenti L, Zeberg H, Richards JB, Ganna A2021-12-01COVID-19, Genetic variation, GeneticsThe Journal of clinical investigation
1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review.Lodato V, Orlando V, Alesi V, Di Tommaso S, Bengala M, Parlapiano G, Agnolucci E, Cicenia M, Calì F, Digilio MC, Drago F, Novelli A, Baban A2021-11-191p36 deletion syndrome, SKI, aortic dilatation, heartJournal of cardiovascular development and disease
Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children.Baban A, Lodato V, Parlapiano G, di Mambro C, Adorisio R, Bertini ES, Dionisi-Vici C, Drago F, Martinelli D2021-10-25age related penetrance, anticipation, cardiac involvement, heterogeneity, neuromuscular disorders, rarityBiomolecules
Advanced Heart Failure in Special Population-Pediatric Age.Monda E, Lioncino M, Pacileo R, Rubino M, Cirillo A, Fusco A, Esposito A, Verrillo F, Di Fraia F, Mauriello A, Tessitore V, Caiazza M, Cesaro A, Calabrò P, Russo MG, Limongelli G2021-10-01Cardiac transplantation, Children, Heart failure, Mechanical circulatory supportHeart failure clinics
Identification of a SCN5A founder mutation causing sudden death, Brugada syndrome, and conduction blocks in Southern Italy.Curcio A, Malovini A, Mazzanti A, Memmi M, Gambelli P, La Rosa F, Bloise R, Indolfi C, Bellazzi R, Napolitano C2021-10-01Arrhythmogenic diseases, Brugada syndrome, Cardiac conduction defects, Founder mutations, Sudden cardiac deathHeart rhythm
Clinical characteristics and risk of arrhythmic events in patients younger than 12 years diagnosed with Brugada syndrome.Righi D, Porco L, Calvieri C, Tamborrino PP, Di Mambro C, Paglia S, Baban A, Silvetti MS, Gnazzo M, Novelli A, Tozzi AE, Drago F2021-10-01Arrhythmic event, Brugada syndrome, Children, Syncope, Type 1 Brugada ECG patternHeart rhythm
Human RyR2 (Ryanodine Receptor 2) Loss-of-Function Mutations: Clinical Phenotypes and In Vitro Characterization.Li Y, Wei J, Guo W, Sun B, Estillore JP, Wang R, Yoruk A, Roston TM, Sanatani S, Wilde AAM, Gollob MH, Roberts JD, Tseng ZH, Jensen HK, Chen SRW2021-09-01caffeine, death, mutation, phenotype, ryanodineCirculation. Arrhythmia and electrophysiology
Unexplained sudden cardiac arrest in children: clinical and genetic characteristics of survivors.Monda E, Sarubbi B, Russo MG, Caiazza M, Mazzaccara C, Magrelli J, Rubino M, Esposito A, Perna A, Passariello A, Bossone E, Romeo E, Colonna D, Esposito MV, D'Argenio V, Salvatore F, Pacileo G, Crotti L, Frisso G, Limongelli G2021-08-23European journal of preventive cardiology
Clinical Risk Prediction in Patients With Left Ventricular Myocardial Noncompaction.Casas G, Limeres J, Oristrell G, Gutierrez-Garcia L, Andreini D, Borregan M, Larrañaga-Moreira JM, Lopez-Sainz A, Codina-Solà M, Teixido-Tura G, Sorolla-Romero JA, Fernández-Álvarez P, González-Carrillo J, Guala A, La Mura L, Soler-Fernández R, Sao Avilés A, Santos-Mateo JJ, Marsal JR, Ribera A, de la Pompa JL, Villacorta E, Jiménez-Jáimez J, Ripoll-Vera T, Bayes-Genis A, Garcia-Pinilla JM, Palomino-Doza J, Tiron C, Pontone G, Bogaert J, Aquaro GD, Gimeno-Blanes JR, Zorio E, Garcia-Pavia P, Barriales-Villa R, Evangelista A, Masci PG, Ferreira-González I, Rodríguez-Palomares JF2021-08-17genotype, late gadolinium enhancement, left ventricular ejection fraction, major adverse cardiovascular events, noncompaction cardiomyopathy, physiologic hypertrabeculationJournal of the American College of Cardiology
Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.Suay-Corredera C, Pricolo MR, Herrero-Galán E, Velázquez-Carreras D, Sánchez-Ortiz D, García-Giustiniani D, Delgado J, Galano-Frutos JJ, García-Cebollada H, Vilches S, Domínguez F, Molina MS, Barriales-Villa R, Frisso G, Sancho J, Serrano L, García-Pavía P, Monserrat L, Alegre-Cebollada J2021-07-01CD, alternative splicing, bioinformatics, cardiac myosin-binding protein C, hypertrophic cardiomyopathy, minigene, protein stability, variants of uncertain significanceThe Journal of biological chemistry
Correction of sinus venosus atrial septal defects with the 10 zig covered Cheatham-platinum stent - An international registry.Rosenthal E, Qureshi SA, Jones M, Butera G, Sivakumar K, Boudjemline Y, Hijazi ZM, Almaskary S, Ponder RD, Salem MM, Walsh K, Kenny D, Hascoet S, Berman DP, Thomson J, Vettukattil JJ, Zahn EM2021-07-01congenital heart disease, covered stent, interventional catheterization, sinus venosus ASDCatheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions
Nanomechanical Phenotypes in Cardiac Myosin-Binding Protein C Mutants That Cause Hypertrophic Cardiomyopathy.Suay-Corredera C, Pricolo MR, Velázquez-Carreras D, Pathak D, Nandwani N, Pimenta-Lopes C, Sánchez-Ortiz D, Urrutia-Irazabal I, Vilches S, Dominguez F, Frisso G, Monserrat L, García-Pavía P, de Sancho D, Spudich JA, Ruppel KM, Herrero-Galán E, Alegre-Cebollada J2021-06-22AFM, cMyBP-C, contraction, hypertrophic cardiomyopathy, protein mechanics, single-moleculeACS nano
Current use of cardiac magnetic resonance in tertiary referral centres for the diagnosis of cardiomyopathy: the ESC EORP Cardiomyopathy/Myocarditis Registry.Mizia-Stec K, Charron P, Gimeno Blanes JR, Elliott P, Kaski JP, Maggioni AP, Tavazzi L, Tendera M, Felix SB, Dominguez F, Ojrzynska N, Losi MA, Limongelli G, Barriales-Villa R, Seferovic PM, Biagini E, Wybraniec M, Laroche C, Caforio ALP2021-06-22cardiac magnetic resonance, cardiomyopathy, registry, transthoracic echocardiographyEuropean heart journal. Cardiovascular Imaging
Involvement of the cardiac conduction system in Kearns-Sayre syndrome is progressive: Authors' reply.Di Mambro C, Martinelli D, Tamborrino PP, Drago F2021-06-07Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
Expert consensus on the monitoring of transthyretin amyloid cardiomyopathy.Garcia-Pavia P, Bengel F, Brito D, Damy T, Duca F, Dorbala S, Nativi-Nicolau J, Obici L, Rapezzi C, Sekijima Y, Elliott PM2021-06-01Amyloidosis, Cardiac imaging, Heart failure, Laboratory markers, Monitoring tools, Transthyretin amyloid cardiomyopathyEuropean journal of heart failure
Deciphering Genetic Variants of Warfarin Metabolism in Children With Ventricular Assist Devices.Baban A, Iodice FG, Di Molfetta A, Cicenia M, Rizzo C, Agolini E, Drago F, Novelli A, Di Chiara L, Testa G, Amodeo A2021-06-01Polymorphisms, Ventricular assist device (VAD), WarfarinPediatric cardiology
Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases.Garcia-Pavia P, Rapezzi C, Adler Y, Arad M, Basso C, Brucato A, Burazor I, Caforio ALP, Damy T, Eriksson U, Fontana M, Gillmore JD, Gonzalez-Lopez E, Grogan M, Heymans S, Imazio M, Kindermann I, Kristen AV, Maurer MS, Merlini G, Pantazis A, Pankuweit S, Rigopoulos AG, Linhart A2021-04-21AL, Amyloidosis, Cardiac amyloidosis, Diagnosis, TTR, Transthyretin, TreatmentEuropean heart journal
Diagnosis and treatment of cardiac amyloidosis. A position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases.Garcia-Pavia P, Rapezzi C, Adler Y, Arad M, Basso C, Brucato A, Burazor I, Caforio ALP, Damy T, Eriksson U, Fontana M, Gillmore JD, Gonzalez-Lopez E, Grogan M, Heymans S, Imazio M, Kindermann I, Kristen AV, Maurer MS, Merlini G, Pantazis A, Pankuweit S, Rigopoulos AG, Linhart A2021-04-01European journal of heart failure
Cadherin 2-Related Arrhythmogenic Cardiomyopathy: Prevalence and Clinical Features.Ghidoni A, Elliott PM, Syrris P, Calkins H, James CA, Judge DP, Murray B, Barc J, Probst V, Schott JJ, Song JP, Hauer RNW, Hoorntje ET, van Tintelen JP, Schulze-Bahr E, Hamilton RM, Mittal K, Semsarian C, Behr ER, Ackerman MJ, Basso C, Parati G, Gentilini D, Kotta MC, Mayosi BM, Schwartz PJ, Crotti L2021-04-01cadherins, cardiomyopathy, mutation, sudden cardiac death, tachycardiaCirculation. Genomic and precision medicine
Brugada syndrome and reduced right ventricular outflow tract conduction reserve: a final common pathway?Behr ER, Ben-Haim Y, Ackerman MJ, Krahn AD, Wilde AAM2021-03-14Brugada syndrome, Depolarization, Genetics, Right ventricular outflow tractEuropean heart journal
Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study.Fallerini C, Daga S, Mantovani S, Benetti E, Picchiotti N, Francisci D, Paciosi F, Schiaroli E, Baldassarri M, Fava F, Palmieri M, Ludovisi S, Castelli F, Quiros-Roldan E, Vaghi M, Rusconi S, Siano M, Bandini M, Spiga O, Capitani K, Furini S, Mari F, Renieri A, Mondelli MU, Frullanti E2021-03-02COVID-19, LASSO Logistic Regression Analysis, TLR7, genetics, genomics, human, medicineeLife
Infant miniaturized continuous-flow pumps and permanent support in Pediatrics.Adorisio R, Grandinetti M, Amodeo A2021-03-01Annals of cardiothoracic surgery
Three-dimensional guided selective right ventricular septal pacing preserves ventricular systolic function and synchrony in pediatric patients.Silvetti MS, Pazzano V, Battipaglia I, Saputo FA, Mizzon C, Gimigliano F, Ammirati A, Ravà L, Drago F2021-03-01Cardiac pacing, Nonfluoroscopic mapping system, Pediatric age, Radiation exposure, Selective pacing, Ventricular dyssynchrony, Ventricular functionHeart rhythm
Persistent myocardial atrophy despite LV reverse remodeling in Duchenne cardiomyopathy treated by LVAD.Cantarutti N, Adorisio R, Baban A, Di Molfetta A, Amodeo A, Drago F2021-03-01LVAD, cardiomyopathy, duchenne, myocardial atrophyPediatric transplantation
Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry.Barriales-Villa R, Ochoa JP, Larrañaga-Moreira JM, Salazar-Mendiguchía J, Díez-López C, Restrepo-Córdoba MA, Álvarez-Rubio J, Robles-Mezcua A, Olmo-Conesa MC, Nicolás-Rocamora E, Sanz J, Villacorta E, Gallego-Delgado M, Yotti R, Espinosa MÁ, Manovel A, Rincón-Díaz LM, Jiménez-Jaimez J, Bermúdez-Jiménez FJ, Basurte-Elorz MT, Climent-Payá V, García-Álvarez MI, Rodríguez-Palomares JF, Limeres-Freire J, Pérez-Guerrero A, Cantero-Pérez EM, Peña-Peña ML, Palomino-Doza J, Crespo-Leiro MG, García-Pinilla JM, Zorio E, Ripoll-Vera T, García-Pavía P, Ortiz-Genga M, Monserrat L2021-03-01Dilated cardiomyopathy, Genetics, Genética, LMN, LMNA, Miocardiopatía dilatada, Missense, Sex, SexoRevista espanola de cardiologia (English ed.)
Sex-Related Differences in Cardiac Channelopathies: Implications for Clinical Practice.Asatryan B, Yee L, Ben-Haim Y, Dobner S, Servatius H, Roten L, Tanner H, Crotti L, Skinner JR, Remme CA, Chevalier P, Medeiros-Domingo A, Behr ER, Reichlin T, Odening KE, Krahn AD2021-02-16Brugada syndrome, arrhythmias, cardiac, death, sudden, cardiac, gender identity, genetics, long QT syndrome, sexCirculation
Cardiac ryanodine receptor calcium release deficiency syndrome.Sun B, Yao J, Ni M, Wei J, Zhong X, Guo W, Zhang L, Wang R, Belke D, Chen YX, Lieve KVV, Broendberg AK, Roston TM, Blankoff I, Kammeraad JA, von Alvensleben JC, Lazarte J, Vallmitjana A, Bohne LJ, Rose RA, Benitez R, Hove-Madsen L, Napolitano C, Hegele RA, Fill M, Sanatani S, Wilde AAM, Roberts JD, Priori SG, Jensen HK, Chen SRW2021-02-03Science translational medicine
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.Tadros R, Francis C, Xu X, Vermeer AMC, Harper AR, Huurman R, Kelu Bisabu K, Walsh R, Hoorntje ET, Te Rijdt WP, Buchan RJ, van Velzen HG, van Slegtenhorst MA, Vermeulen JM, Offerhaus JA, Bai W, de Marvao A, Lahrouchi N, Beekman L, Karper JC, Veldink JH, Kayvanpour E, Pantazis A, Baksi AJ, Whiffin N, Mazzarotto F, Sloane G, Suzuki H, Schneider-Luftman D, Elliott P, Richard P, Ader F, Villard E, Lichtner P, Meitinger T, Tanck MWT, van Tintelen JP, Thain A, McCarty D, Hegele RA, Roberts JD, Amyot J, Dubé MP, Cadrin-Tourigny J, Giraldeau G, L'Allier PL, Garceau P, Tardif JC, Boekholdt SM, Lumbers RT, Asselbergs FW, Barton PJR, Cook SA, Prasad SK, O'Regan DP, van der Velden J, Verweij KJH, Talajic M, Lettre G, Pinto YM, Meder B, Charron P, de Boer RA, Christiaans I, Michels M, Wilde AAM, Watkins H, Matthews PM, Ware JS, Bezzina CR2021-02-01Nature genetics
Medical conditions of children and young people with Down syndrome.Valentini D, Di Camillo C, Mirante N, Vallogini G, Olivini N, Baban A, Buzzonetti L, Galeotti A, Raponi M, Villani A2021-02-01Down syndrome, communication, intellectual disability, learning disabilityJournal of intellectual disability research : JIDR
Computer versus cardiologist: Is a machine learning algorithm able to outperform an expert in diagnosing a phospholamban p.Arg14del mutation on the electrocardiogram?Bleijendaal H, Ramos LA, Lopes RR, Verstraelen TE, Baalman SWE, Oudkerk Pool MD, Tjong FVY, Melgarejo-Meseguer FM, Gimeno-Blanes FJ, Gimeno-Blanes JR, Amin AS, Winter MM, Marquering HA, Kok WEM, Zwinderman AH, Wilde AAM, Pinto YM2021-01-01Cardiomyopathy, Deep learning, ECG analysis, Genetic heart disease, Machine learning, PhospholambanHeart rhythm
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.Walsh R, Lahrouchi N, Tadros R, Kyndt F, Glinge C, Postema PG, Amin AS, Nannenberg EA, Ware JS, Whiffin N, Mazzarotto F, Škorić-Milosavljević D, Krijger C, Arbelo E, Babuty D, Barajas-Martinez H, Beckmann BM, Bézieau S, Bos JM, Breckpot J, Campuzano O, Castelletti S, Celen C, Clauss S, Corveleyn A, Crotti L, Dagradi F, de Asmundis C, Denjoy I, Dittmann S, Ellinor PT, Ortuño CG, Giustetto C, Gourraud JB, Hazeki D, Horie M, Ishikawa T, Itoh H, Kaneko Y, Kanters JK, Kimoto H, Kotta MC, Krapels IPC, Kurabayashi M, Lazarte J, Leenhardt A, Loeys BL, Lundin C, Makiyama T, Mansourati J, Martins RP, Mazzanti A, Mörner S, Napolitano C, Ohkubo K, Papadakis M, Rudic B, Molina MS, Sacher F, Sahin H, Sarquella-Brugada G, Sebastiano R, Sharma S, Sheppard MN, Shimamoto K, Shoemaker MB, Stallmeyer B, Steinfurt J, Tanaka Y, Tester DJ, Usuda K, van der Zwaag PA, Van Dooren S, Van Laer L, Winbo A, Winkel BG, Yamagata K, Zumhagen S, Volders PGA, Lubitz SA, Antzelevitch C, Platonov PG, Odening KE, Roden DM, Roberts JD, Skinner JR, Tfelt-Hansen J, van den Berg MP, Olesen MS, Lambiase PD, Borggrefe M, Hayashi K, Rydberg A, Nakajima T, Yoshinaga M, Saenen JB, Kääb S, Brugada P, Robyns T, Giachino DF, Ackerman MJ, Brugada R, Brugada J, Gimeno JR, Hasdemir C, Guicheney P, Priori SG, Schulze-Bahr E, Makita N, Schwartz PJ, Shimizu W, Aiba T, Schott JJ, Redon R, Ohno S, Probst V, Behr ER, Barc J, Bezzina CR2021-01-01ACMG/AMP guidelines, Brugada, LQTS, variant interpretationGenetics in medicine : official journal of the American College of Medical Genetics
SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families.Wijeyeratne YD, Tanck MW, Mizusawa Y, Batchvarov V, Barc J, Crotti L, Bos JM, Tester DJ, Muir A, Veltmann C, Ohno S, Page SP, Galvin J, Tadros R, Muggenthaler M, Raju H, Denjoy I, Schott JJ, Gourraud JB, Skoric-Milosavljevic D, Nannenberg EA, Redon R, Papadakis M, Kyndt F, Dagradi F, Castelletti S, Torchio M, Meitinger T, Lichtner P, Ishikawa T, Wilde AAM, Takahashi K, Sharma S, Roden DM, Borggrefe MM, McKeown PP, Shimizu W, Horie M, Makita N, Aiba T, Ackerman MJ, Schwartz PJ, Probst V, Bezzina CR, Behr ER2020-12-01Brugada syndrome, genetics, human, penetrance, phenotype, risk scoreCirculation. Genomic and precision medicine
Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.Kortüm F, Niceta M, Magliozzi M, Dumic Kubat K, Robertson SP, Moresco A, Dentici ML, Baban A, Leoni C, Onesimo R, Obregon MG, Digilio MC, Zampino G, Novelli A, Tartaglia M, Kutsche K2020-09-01ABCC9, Cantú syndrome, Coarse face, Gain-of-function, Potassium channel, Zimmermann-Laband syndromeEuropean journal of medical genetics
Genetic susceptibility for COVID-19-associated sudden cardiac death in African Americans.Giudicessi JR, Roden DM, Wilde AAM, Ackerman MJ2020-09-01COVID-19, Genetics, Health disparities, Long QT syndrome, Sudden cardiac deathHeart rhythm
SARS-CoV-2, COVID-19, and inherited arrhythmia syndromes.Wu CI, Postema PG, Arbelo E, Behr ER, Bezzina CR, Napolitano C, Robyns T, Probst V, Schulze-Bahr E, Remme CA, Wilde AAM2020-09-01Brugada syndrome, COVID-19, Catecholaminergic polymorphic ventricular tachycardia, Long QT syndrome, SARS-CoV-2, Short QT syndromeHeart rhythm
Subcutaneous or Transvenous Defibrillator Therapy.Knops RE, Olde Nordkamp LRA, Delnoy PHM, Boersma LVA, Kuschyk J, El-Chami MF, Bonnemeier H, Behr ER, Brouwer TF, Kääb S, Mittal S, Quast ABE, Smeding L, van der Stuijt W, de Weger A, de Wilde KC, Bijsterveld NR, Richter S, Brouwer MA, de Groot JR, Kooiman KM, Lambiase PD, Neuzil P, Vernooy K, Alings M, Betts TR, Bracke FALE, Burke MC, de Jong JSSG, Wright DJ, Tijssen JGP, Wilde AAM2020-08-06The New England journal of medicine
Association of Hydroxychloroquine With QTc Interval in Patients With COVID-19.Mazzanti A, Briani M, Kukavica D, Bulian F, Marelli S, Trancuccio A, Monteforte N, Manciulli T, Morini M, Carlucci A, Viggiani G, Cannata F, Negri S, Bloise R, Memmi M, Gambelli P, Carbone A, Molteni M, Bianchini R, Salgarello R, Sozzi S, De Cata P, Fanfulla F, Ceriana P, Locatelli C, Napolitano C, Chiovato L, Tomasi L, Stefanini GG, Condorelli G, Priori SG2020-08-04COVID-19, arrhythmia, hydroxychloroquine, long QT syndromeCirculation
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.Lahrouchi N, Tadros R, Crotti L, Mizusawa Y, Postema PG, Beekman L, Walsh R, Hasegawa K, Barc J, Ernsting M, Turkowski KL, Mazzanti A, Beckmann BM, Shimamoto K, Diamant UB, Wijeyeratne YD, Kucho Y, Robyns T, Ishikawa T, Arbelo E, Christiansen M, Winbo A, Jabbari R, Lubitz SA, Steinfurt J, Rudic B, Loeys B, Shoemaker MB, Weeke PE, Pfeiffer R, Davies B, Andorin A, Hofman N, Dagradi F, Pedrazzini M, Tester DJ, Bos JM, Sarquella-Brugada G, Campuzano Ó, Platonov PG, Stallmeyer B, Zumhagen S, Nannenberg EA, Veldink JH, van den Berg LH, Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Andersen PM, Müller-Nurasyid M, Cusi D, Barlassina C, Galan P, Lathrop M, Munter M, Werge T, Ribasés M, Aung T, Khor CC, Ozaki M, Lichtner P, Meitinger T, van Tintelen JP, Hoedemaekers Y, Denjoy I, Leenhardt A, Napolitano C, Shimizu W, Schott JJ, Gourraud JB, Makiyama T, Ohno S, Itoh H, Krahn AD, Antzelevitch C, Roden DM, Saenen J, Borggrefe M, Odening KE, Ellinor PT, Tfelt-Hansen J, Skinner JR, van den Berg MP, Olesen MS, Brugada J, Brugada R, Makita N, Breckpot J, Yoshinaga M, Behr ER, Rydberg A, Aiba T, Kääb S, Priori SG, Guicheney P, Tan HL, Newton-Cheh C, Ackerman MJ, Schwartz PJ, Schulze-Bahr E, Probst V, Horie M, Wilde AA, Tanck MWT, Bezzina CR2020-07-28genome-wide association study, inheritance patterns, long QT syndromeCirculation
Inherited cardiac arrhythmias.Schwartz PJ, Ackerman MJ, Antzelevitch C, Bezzina CR, Borggrefe M, Cuneo BF, Wilde AAM2020-07-16Nature reviews. Disease primers
Deletions of specific exons of FHOD3 detected by next-generation sequencing are associated with hypertrophic cardiomyopathy.Ochoa JP, Lopes LR, Perez-Barbeito M, Cazón-Varela L, de la Torre-Carpente MM, Sonicheva-Paterson N, De Uña-Iglesias D, Quinn E, Kuzmina-Krutetskaya S, Garrote JA, Elliott PM, Monserrat L2020-07-01DNA copy-number variations, FHOD3 protein, cardiomyopathies, cardiomyopathy, formins, genetic testing, human, hypertrophic, next-generation sequencingClinical genetics
Cryptic Splice-Altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy.Lopes LR, Barbosa P, Torrado M, Quinn E, Merino A, Ochoa JP, Jager J, Futema M, Carmo-Fonseca M, Monserrat L, Syrris P, Elliott PM2020-06-01MYBPC3, cardiomyopathy, hypertrophic, cryptic splice sites, genetics, intronsCirculation. Genomic and precision medicine
Heart Rate Recovery After Exercise Is Associated With Arrhythmic Events in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia.Lieve KVV, Dusi V, van der Werf C, Bos JM, Lane CM, Stokke MK, Roston TM, Djupsjöbacka A, Wada Y, Denjoy I, Bundgaard H, Noguer FRI, Semsarian C, Robyns T, Hofman N, Tanck MW, van den Berg MP, Kammeraad JAE, Krahn AD, Clur SB, Sacher F, Till J, Skinner JR, Tfelt-Hansen J, Probst V, Leenhardt A, Horie M, Swan H, Roberts JD, Sanatani S, Haugaa KH, Schwartz PJ, Ackerman MJ, Wilde AAM2020-03-01autonomic nervous system, death, sudden, exercise test, heart rate, humansCirculation. Arrhythmia and electrophysiology
Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy.Robyns T, Breckpot J, Nuyens D, Vandenberk B, Corveleyn A, Kuiperi C, Van Aelst L, Van Cleemput J, Willems R2020-03-01Genetic testing, Genotype phenotype relation, Hypertrophic cardiomyopathyEuropean journal of medical genetics
Continued misuse of orphan drug legislation: a life-threatening risk for mexiletine.Postema PG, Schwartz PJ, Arbelo E, Bannenberg WJ, Behr ER, Belhassen B, Brugada J, Brugada P, John Camm A, Casado-Arroyo R, 't Hoen E, Hollak CEM, Kääb S, Lambiase PD, Leenhardt A, Priori SG, Probst V, Stunnenberg BC, Tfelt-Hansen J, Van Engelen BGM, Veltmann C, Viskin S, Wilde AAM2020-02-01European heart journal
Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision.Baban A, Cicenia M, Magliozzi M, Gnazzo M, Cantarutti N, Silvetti MS, Adorisio R, Dallapiccola B, Bertini E, Novelli A, Drago F2020-01-01LMNA variants, aortic coarctation, arrhythmias, congenital heart defects, dilated cardiomyopathy, laminopathyFrontiers in pediatrics
Prevalence of TTR variants detected by whole-exome sequencing in hypertrophic cardiomyopathy.Lopes LR, Futema M, Akhtar MM, Lorenzini M, Pittman A, Syrris P, Elliott PM2019-12-01Hereditary transthyretin amyloidosis, hypertrophic cardiomyopathy, whole-exome sequencingAmyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death.Fellmann F, van El CG, Charron P, Michaud K, Howard HC, Boers SN, Clarke AJ, Duguet AM, Forzano F, Kauferstein S, Kayserili H, Lucassen A, Mendes Á, Patch C, Radojkovic D, Rial-Sebbag E, Sheppard MN, Tassé AM, Temel SG, Sajantila A, Basso C, Wilde AAM, Cornel MC2019-12-01European journal of human genetics : EJHG
2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy: Executive summary.Towbin JA, McKenna WJ, Abrams DJ, Ackerman MJ, Calkins H, Darrieux FCC, Daubert JP, de Chillou C, DePasquale EC, Desai MY, Estes NAM, Hua W, Indik JH, Ingles J, James CA, John RM, Judge DP, Keegan R, Krahn AD, Link MS, Marcus FI, McLeod CJ, Mestroni L, Priori SG, Saffitz JE, Sanatani S, Shimizu W, van Tintelen JP, Wilde AAM, Zareba W2019-11-01Arrhythmogenic cardiomyopathy, Arrhythmogenic left ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Cascade family screening, Catheter ablation, Diagnosis of arrhythmogenic cardiomyopathy, Disease mechanisms, Electrophysiology, Exercise restriction, Genetic testing, Genetic variants, ICD decisions, Left ventricular noncompaction, Risk stratification, Treatment of arrhythmogenic cardiomyopathyHeart rhythm
2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy.Towbin JA, McKenna WJ, Abrams DJ, Ackerman MJ, Calkins H, Darrieux FCC, Daubert JP, de Chillou C, DePasquale EC, Desai MY, Estes NAM, Hua W, Indik JH, Ingles J, James CA, John RM, Judge DP, Keegan R, Krahn AD, Link MS, Marcus FI, McLeod CJ, Mestroni L, Priori SG, Saffitz JE, Sanatani S, Shimizu W, van Tintelen JP, Wilde AAM, Zareba W2019-11-01Arrhythmogenic cardiomyopathy, Arrhythmogenic left ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Cascade family screening, Catheter ablation, Diagnosis of arrhythmogenic cardiomyopathy, Disease mechanisms, Electrophysiology, Exercise restriction, Genetic testing, Genetic variants, ICD decisions, Left ventricular noncompaction, Risk stratification, Treatment of arrhythmogenic cardiomyopathyHeart rhythm
Severe Cardiac Dysfunction and Death Caused by Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Are Improved by Inhibition of Glycogen Synthase Kinase-3β.Padrón-Barthe L, Villalba-Orero M, Gómez-Salinero JM, Domínguez F, Román M, Larrasa-Alonso J, Ortiz-Sánchez P, Martínez F, López-Olañeta M, Bonzón-Kulichenko E, Vázquez J, Martí-Gómez C, Santiago DJ, Prados B, Giovinazzo G, Gómez-Gaviro MV, Priori S, Garcia-Pavia P, Lara-Pezzi E2019-10-01GSK3β, TMEM43, arrhythmogenic right ventricular, calcineurin, dysplasia, therapyCirculation
A validation study of the European Society of Cardiology guidelines for risk stratification of sudden cardiac death in childhood hypertrophic cardiomyopathy.Norrish G, Ding T, Field E, McLeod K, Ilina M, Stuart G, Bhole V, Uzun O, Brown E, Daubeney PEF, Lota A, Linter K, Mathur S, Bharucha T, Kok KL, Adwani S, Jones CB, Reinhardt Z, Omar RZ, Kaski JP2019-10-01Children, ESC Guidelines, Hypertrophic cardiomyopathy, Risk, Sudden deathEuropace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.Crotti L, Spazzolini C, Tester DJ, Ghidoni A, Baruteau AE, Beckmann BM, Behr ER, Bennett JS, Bezzina CR, Bhuiyan ZA, Celiker A, Cerrone M, Dagradi F, De Ferrari GM, Etheridge SP, Fatah M, Garcia-Pavia P, Al-Ghamdi S, Hamilton RM, Al-Hassnan ZN, Horie M, Jimenez-Jaimez J, Kanter RJ, Kaski JP, Kotta MC, Lahrouchi N, Makita N, Norrish G, Odland HH, Ohno S, Papagiannis J, Parati G, Sekarski N, Tveten K, Vatta M, Webster G, Wilde AAM, Wojciak J, George AL, Ackerman MJ, Schwartz PJ2019-09-14Calmodulin, Cathecolaminergic polymorphic ventricular tachycardia, Idiopathic ventricular fibrillation, Long QT syndrome, Sudden deathEuropean heart journal
Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.Raju H, Ware JS, Skinner JR, Hedley PL, Arno G, Love DR, van der Werf C, Tfelt-Hansen J, Winkel BG, Cohen MC, Li X, John S, Sharma S, Jeffery S, Wilde AAM, Christiansen M, Sheppard MN, Behr ER2019-07-23Inherited cardiac conditions, Molecular autopsy, Next generation sequencing, Sudden arrhythmic death syndrome, Sudden unexplained deathBMC cardiovascular disorders
Effectiveness of the 2014 European Society of Cardiology guideline on sudden cardiac death in hypertrophic cardiomyopathy: a systematic review and meta-analysis.O'Mahony C, Akhtar MM, Anastasiou Z, Guttmann OP, Vriesendorp PA, Michels M, Magrì D, Autore C, Fernández A, Ochoa JP, Leong KMW, Varnava AM, Monserrat L, Anastasakis A, Garcia-Pavia P, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, Omar RZ, Elliott PM2019-04-01hypertrophic cardiomyopathy, implanted cardiac defibrillators, ventricular fibrillationHeart (British Cardiac Society)
Prognostic value of electrocardiographic time intervals and QT rate dependence in hypertrophic cardiomyopathy.Robyns T, Nuyens D, Lu HR, Gallacher DJ, Vandenberk B, Garweg C, Ector J, Pagourelias E, Van Cleemput J, Janssens S, Willems R2018-11-01Hypertrophic cardiomyopathy, Index of cardio-electrophysiological balance, Individualized QT correction, QT rate dependence, Risk stratificationJournal of electrocardiology
Fever-related arrhythmic events in the multicenter Survey on Arrhythmic Events in Brugada Syndrome.Michowitz Y, Milman A, Sarquella-Brugada G, Andorin A, Champagne J, Postema PG, Casado-Arroyo R, Leshem E, Juang JJM, Giustetto C, Tfelt-Hansen J, Wijeyeratne YD, Veltmann C, Corrado D, Kim SH, Delise P, Maeda S, Gourraud JB, Sacher F, Mabo P, Takahashi Y, Kamakura T, Aiba T, Conte G, Hochstadt A, Mizusawa Y, Rahkovich M, Arbelo E, Huang Z, Denjoy I, Napolitano C, Brugada R, Calo L, Priori SG, Takagi M, Behr ER, Gaita F, Yan GX, Brugada J, Leenhardt A, Wilde AAM, Brugada P, Kusano KF, Hirao K, Nam GB, Probst V, Belhassen B2018-09-01Brugada syndrome, Children, Elderly, Ethnicity, Fever, SexHeart rhythm
Determinants of occurrence and survival after sudden cardiac arrest-A European perspective: The ESCAPE-NET project.Empana JP, Blom MT, Bӧttiger BW, Dagres N, Dekker JM, Gislason G, Jouven X, Meitinger T, Ristagno G, Schwartz PJ, Jonsson M, Tfelt-Hansen J, Truhlar A, Tan HL2018-03-01Automated external defibrillator, Genetics, Resuscitation, Sudden cardiac arrestResuscitation
Right ventricular remodeling in athletes and in arrhythmogenic cardiomyopathy.Chivulescu M, Haugaa K, Lie ØH, Edvardsen T, Ginghină C, Popescu BA, Jurcut R2018-02-01Right ventricle, arrhythmogenic cardiomyopathy, athlete’s heart, sudden cardiac deathScandinavian cardiovascular journal : SCJ
Role of echocardiography in the diagnosis and management of hypertrophic cardiomyopathy.Dominguez F, González-López E, Padron-Barthe L, Cavero MA, Garcia-Pavia P2018-02-01Echocardiography, Hypertrophic CardiomyopathyHeart (British Cardiac Society)
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Last update: June 8th, 2024 on 01:30