Paradoxical Response to Enzyme Replacement Therapy of Fabry Disease Cardiomyopathy.

Abstract

A 53-year-old asymptomatic man with no family history of Fabry disease or hypertrophic cardiomyopathy (HCM) exhibited increased ECG voltages (Figure [A]) and primary cardiac hypertrophy (left ventricular maximal wall thickness 16 mm and myocardial mass 163.2 g) with preserved contractility at cardiac magnetic resonance (Figure [D]). He was diagnosed in 2006 to be affected by Fabry disease cardiomyopathy because of reduced (to 3%) leukocyte α-galactosidase A activity, N215S mutation of α - Gal gene, and extensive glycolipid deposits in the cardiomyocytes at left ventricular endomyocardial biopsy (Figure [G] and [J]). Average cardiac cell diameter was 22 μm, and the vacuoles with storage material occupied 54% of cell surface. No cardiac valve, coronary, or systemic involvement by Fabry disease was clinically evident. No mutation of the most common HCM genes was relieved. The patient was treated with agalsidase alfa (0.2 mg every other week) and followed up with ECG, Holter monitoring, and echocardiogram every 6 months and cardiac magnetic resonance every 1 to 2 years. In …