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Anderson-Fabry Disease and the Heart

O'Mahony, C; Elliott, P; (2010) Anderson-Fabry Disease and the Heart. PROG CARDIOVASC DIS , 52 (4) 326 - 335. 10.1016/j.pcad.2009.11.002.

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Abstract

Anderson-Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations of the GLA gene that encodes alpha-galactosidase A. The ensuing enzyme deficiency results in intracellular accumulation of neutral glycosphingolipids (primarily globotriaosylceramide) and progressive renal, cardiac, and cerebrovascular disease. Female carriers are at risk of developing disease, but this tends to be milder and more slowly progressive than in males. Left ventricular hypertrophy is the most common cardiac manifestation followed by conduction system disease, valve dysfunction, and arrhythmias. Management of cardiovascular symptoms and the prevention of complications rely on conventional pharmacologic and device-based therapies, but data on the effect of enzyme replacement therapy suggest that it has the potential to attenuate and possibly reverse some aspects of cardiac involvement. (Prog Cardiovasc Dis 2010;52:326-335) (C) 2010 Elsevier Inc. All rights reserved.

Type: Article
Title: Anderson-Fabry Disease and the Heart
DOI: 10.1016/j.pcad.2009.11.002
Keywords: Anderson-Fabry disease, Cardiac hypertrophy, Arrhythmias, Enzyme replacement therapy, ENZYME-REPLACEMENT THERAPY, ALPHA-GALACTOSIDASE-A, CARDIOVASCULAR MAGNETIC-RESONANCE, ONSET HYPERTROPHIC CARDIOMYOPATHY, LEFT-VENTRICULAR HYPERTROPHY, LYSOSOMAL STORAGE DISORDERS, CARDIAC MANIFESTATIONS, OUTCOME SURVEY, CLINICAL-MANIFESTATIONS, AGALSIDASE-ALPHA
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/88319
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