We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Cardiac Involvements of Fabry Disease.
- Authors
Yuan, S.-M.
- Abstract
Fabry disease is a rare, inherited metabolic disorder caused by deficient activity of a-galactosidase A, which leads to cellular and multiorgan dysfunction due to progressive intracellular globotriaosylceramide accumulation, extensive interstitial fibrosis and smooth muscle cell proliferation, mostly due to accelerated cellular apoptosis and/or necrosis. Cardiac involvements are frequent in Fabry disease. The patients may develop hypertrophic cardiomyopathy, arrhythmias, conduction abnormalities, valvular abnormalities and coronary heart disease. The diagnosis of Fabry disease is challenging due to the protean manifestations, which often lead to delayed diagnosis. Enzyme replacement therapy with the administration of agalsidases a and ß may lead to the clearance of globotriaosylceramides from the cardiac capillaries and therefore result in left ventricular structural and functional improvements. Anticoagulant treatment is necessary for patients with Fabry disease to prevent ischaemic events. Symptomatic bradycardia and heart block frequently warrant pacemaker implantation and malignant arrhythmias may require an implantable cardioverter-defibrillator. Surgical interventions including valvular operation, myectomy and coronary artery bypass or coronary angioplasty have been attempted in a limited number of patients with Fabry disease alongside enzyme replacement therapy. The early and mid-term follow-up results have been satisfactory. This article presents a review of the pathogenesis, clinical features, diagnostic approaches and treatment strategies of the heart involvements of Fabry disease.
- Subjects
ANGIOKERATOMA corporis diffusum; HEART block; CORONARY artery bypass; ENZYME replacement therapy; CORONARY disease; IMPLANTABLE cardioverter-defibrillators
- Publication
West Indian Medical Journal, 2024, Vol 71, Issue 1, p78
- ISSN
0043-3144
- Publication type
Article
- DOI
10.7727/wimj.2016.574