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The heart in Anderson Fabry disease

Item Type:Review
Title:The heart in Anderson Fabry disease
Creators Name:Kampmann, C. and Wiethoff, C.M. and Perrot, A. and Beck, M. and Dietz, R. and Osterziel, K.J.
Abstract:Anderson Fabry disease is a life threatening, X-linked inborn metabolic defect of the lysosomal enzyme á{alpha}-galactosidase A. The deficiency of {alpha}-galactosidase A leads to a progressive accumulation of globotriaosylceramide (Gb(3)), the major glycosphingolipid substrate of the enzyme, within vulnerable cells, tissues, and organs, including the cardiovascular system. Cardiac involvement is frequent and patients with cardiac affection develop progressive hypertrophic infiltrative cardiomyopathy, valvular abnormalities, arrhythmias, and conduction abnormalities and may develop coronary heart disease. Hemizygous male patients have no detectable {alpha}-galactosidase A activity, while affected heterozygous females may have normal level of {alpha}-galactosidase A activity. Death occurs in male patients at 45 to 50 years, about 15 to 20 years earlier than in female patients due to a vicious circle from chronic renal insufficiency, arterial hypertension, atherosclerotic lesions and cerebrovascular hemorrhage or insults, and cardiomyopathy.    Cardiac involvement in hetero- and hemizygotes will be discussed as well as the influence of enzyme replacement of {alpha}-galactosidase A.
Keywords:Anderson Fabry Disease, {alpha}-Galactosidase A, Deficiency, Cardiomyopathy, Heart Disease, Enzyme, Replacement Therapy, Animals, Cricetinae
Source:Zeitschrift fuer Kardiologie
ISSN:0300-5860
Publisher:Steinkopff (Germany)
Volume:91
Number:10
Page Range:786-795
Date:October 2002
Official Publication:https://doi.org/10.1007/s00392-002-0848-5
PubMed:View item in PubMed

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