Electrocardiogram evolution in Anderson-Fabry disease patients during follow-up in relation to specific treatment and cardiac disease progression.

Aims

Electrocardiogram (ECG) analysis plays a central role in Anderson-Fabry disease (AFD) diagnosis and management. This study aimed to assess ECG evolution during follow-up in relation to specific treatment and disease progression.

Methods

Retrospective study of a multicentric cohort of AFD patients with ≥2 ECG and echocardiographic data. Specific treatment status (enzyme replacement or chaperone) was defined as: chronic therapy (≥ 1 year before the first ECG); therapy started during the follow-up; no therapy.

Results

One-hundred-eighty-one AFD patients (median age 46 years, IQR 35-58; 36 % male; 67 % classic phenotype composed the study population: 24 % were on chronic therapy; 39 % started the therapy during follow-up; 37 % had no specific therapy. During a median follow-up of 62 months (IQR 33-83), significant ECG variations were: atrial fibrillation detection (p = 0.005), PendQ interval (p = 0.04), left atrial enlargement (p < 0.001), new right bundle branch block (RBBB, p < 0.001), QRS interval (p < 0.001), QRS fragmentation (p = 0.024), QTc (p = 0.001), and symmetric lateral negative T waves development (p = 0.016). PendQ interval showed a significant interaction with treatment status, significantly increasing in patients without or on chronic therapy but slightly reducing in patients who started the specific therapy during follow-up (p for interaction = 0.035). PendQ interval, new RBBB and pathologic QTc were associated with left ventricle wall thickness increase (p = 0.003, p = 0.014, p = 0.019, respectively).

Conclusions

In this multicentric cohort of AFD patients, several ECG parameters showed significant changes during follow-up. Only PendQ interval showed a significant interaction with treatment status. Moreover, PendQ interval, new RBBB and pathologic QTc development were associated with cardiac hypertrophy progression.

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