Heart in Fabry Disease
Journal Title: Journal of Rare Cardiovascular Diseases - Year 2012, Vol 1, Issue 1
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 insuffi ciency. This review presents detailed description of Fabry disease pathophysiology, genetics and epidemiology. It provides the latest data onscreening, diagnostics and management. JRCD 2012; 1: 3–6 Key words: Storage disease; Myocardial hypertrophy
Authors and Affiliations
Paweł Petkow Dimitrow
Keywords
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- DOI 10.20418/jrcd.vol1no1.21
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