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Fabry disease and the heart: an overview of the natural history and the effect of enzyme replacement therapy

Shah, JS; Elliott, PM; (2005) Fabry disease and the heart: an overview of the natural history and the effect of enzyme replacement therapy. ACTA PAEDIATRICA , 94 11 - 14. 10.1080/08035320510028058.

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Abstract

Fabry disease is a genetic disorder caused by the deficiency of alpha-galactosidase A, resulting in the lysosomal accumulation of glycosphingolipids. Fabry disease may result in cardiac, cerebral and renal complications. Cardiac abnormalities in patients with Fabry disease were first described in the 1960s. In the 1990s a form of Fabry disease confined to the heart was reported; however, this variant is extremely rare and a more appropriate concept is of cardiac predominance of the disease in some patients. Up to 60% of males with classic Fabry disease have cardiac abnormalities, including left ventricular hypertrophy, valvular dysfunction and conduction abnormalities. Recent data suggest that left ventricular mass and systolic function in patients with Fabry disease improve after 12 months of enzyme replacement therapy (ERT), however, many of the patients studied are relatively young and have mild cardiac abnormalities, suggesting that more research into the efficacy of ERT in older patients is necessary.

Type: Article
Title: Fabry disease and the heart: an overview of the natural history and the effect of enzyme replacement therapy
Location: Seville, SPAIN
DOI: 10.1080/08035320510028058
Keywords: cardiovascular disease, enzyme replacement therapy, Fabry disease, left ventricular hypertrophy, HYPERTROPHIC CARDIOMYOPATHY, ATYPICAL VARIANT, CARDIAC-FUNCTION, STORAGE, MANIFESTATIONS, IMPROVEMENT, PREVALENCE, PHENOTYPE, AFD
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science > Clinical Science
URI: http://discovery.ucl.ac.uk/id/eprint/88254
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