Heart in Fabry Disease

Abstract

Fabry disease is one of the lysosomal storage disorders, that results from progressive multiorgan accumulation of glycoproteins. It is caused by mutations of the GLA gene, which encodes alpha-galactosidase A. The incidence of Fabry disease is estimated at the level of 1:55 000 male births, however the true prevalence, including atypical, sub-clinical or late-variant phenotypes may be higher. Typically, early manifestations of the disease, neuropathy and angiokeratomas, are evident by youth. Cardiac involvement results in left ventricle hypertrophy, although lysosomal deposits may lead to conduction disorders, coronary artery disease, aortic and mitral valve insufficiency. This review presents detailed description of Fabry disease pathophysiology, genetics and epidemiology. It provides the latest data on screening, diagnostics and management. JRCD 2012; 1: 3-6