Resumo

BARON O, Ana M  e  BARON C, Alberto. Cardiovascular involvement in Fabry disease. Rev. Col. Cardiol. [online]. 2008, vol.15, n.3, pp.134-138. ISSN 0120-5633.

Fabry disease is a genetic condition that causes lysosomal storage of products like glotriaosylceramide, neural glycosphingolipids and diagalactosylceramide, as a consequence of alpha-galactosidase A enzyme deficiency. Clinical manifestations begin in childhood, but they are subtle, and can mimic other pathologies, delaying the diagnosis until the second or third decade of life, when the disease is in an advanced stage. In adults the most affected organs are heart, kidneys and brain. Cardiac involvement is one of the most important causes of morbidity and mortality. Deposits of these molecules occur in every component of the heart, leading to hypertrophy, ischemia and myocardial remodeling. Nowadays there is specific enzyme replacement therapy with recombinant agalacidase A and B that decreases lysosomal deposits and modifies the course of the disease. We recommend an increment in the disease surveillance in order to achieve early detection and treatment.

Palavras-chave : Fabry disease; lysosomal storage disease; hypertrophic cardiomyopathy; myocardial ischemia.

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