Cardiac variant of Fabry's disease mimicking hypertrophic cardiomyopathy

Abstract

A case of cardiac variant of Fabry's disease mimicking hypertrophic cardiomyopathy is reported. The diagnosis was obtained by biventricular endomyocardial biopsy showing severely hypertrophied myocardiocytes with large periodic acid-Schiff and Sudan black positive perinuclear vacuoles, shown at electromicroscopy to consist of lamellated cytoplasmic figures highly suggestive of Fabry's disease, and confirmed by diagnostic low activity of alpha-galactosidase A in the peripheral lymphocytes. Invasive approach was suggested by the occurrence of a long-standing atrial fibrillation that failed to determine deterioration of cardiac function. Differential diagnosis between hypertrophic cardiomyopathy and the cardiac variant of Fabry's disease is relevant for prognostic and therapeutic implications including the perspective of an enzyme replacement therapy.