Arrhythmia and Clinical Cardiac Findings in Children With Anderson-Fabry Disease.

Abstract

Anderson-Fabry Disease (AFD) is a lysosomal storage disorder that results in progressive cardiovascular hypertrophy, scarring, and arrhythmia burden; yet, the early cardiac phenotype of AFD is still poorly defined. To further characterize early cardiac features in AFD, we evaluated electrocardiographic and clinical findings contained in a local cohort of pediatric AFD patients and arrhythmia data in children enrolled in the Fabry Registry. Twenty-six local patients aged <18years were identified (average age 9.7 ± 3.8years, n=12 males). Sinus bradycardia was the most frequent rhythm abnormality (23%), followed by ectopic atrial rhythm (12%) and premature atrial contractions (8%). No PR, QRS, or QTc intervals were prolonged. First-degree atrioventricular block developed in 1 female during follow-up. Chest pain (35%) and palpitations (23%) were highly prevalent complaints in clinical follow-up and did not differ significantly between genders. Structural findings included aortic root dilation in 3 patients and concurrent aortic insufficiency in 1. Among 593 patients aged < 18years with electrocardiographic data identified in the Fabry Registry, sinus bradycardia, defined as heart rate <60 beats per minute per registry guidelines, was the most common arrhythmia (12.3%). In conclusion, clinical findings and subtle abnormalities of conduction, rhythm, and structure point toward a heterogeneous inception of Fabry cardiomyopathy. Bradycardia, common in adults, is frequent even among children with AFD. Given the potential for early initiation of enzyme replacement therapy to reduce cardiovascular morbidity, continued work to develop paradigms of therapy and longitudinal cardiovascular surveillance is warranted.