Excerpt

Anderson-Fabry disease (AFD) is an X-linked recessive lysosomal storage disorder that is caused by the deficient activity of a-galactosidase A (a-Gal A)1 with the resultant accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids2 in a variety of cells, including micro-vascular endothelial cells, renal tubular cells, and myocardial cells. In classically affected males, the progressive Gb3 accumulation leads to renal, cardiac, and cerebro-vascular manifestations and early death.3 Chronic renal failure represents the most frequent cause of morbidity, with cardiac involvement being the leading cause of death and premature mortality.4 It has been reported that the progressive accumulation of Gb3 in cardiomyocytes, cardiac valves, endothelial cells, and conduction system, leads to increased ventricular wall thickness and functional impairment,5 in addition to valvular and electrocardiographic abnormalities.6 The classic cardiac involvement is a form of hypertrophic cardiomyopathy, usually described as concentric left ventricular hypertrophy (LVH). The disease is progressive, with symptoms appearing with increasing age. …