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Cardiac Involvements of Fabry Disease

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Fabry disease is a rare inherited metabolic disorder caused by deficient activity of α-galactosidase A, which leads to cellular and multiorgan dysfunction due to progressive intracellular globotriaosylceramide accumulation and further extensive interstitial fibrosis and smooth muscle cell proliferation, mostly due to accelerated cellular apoptosis and/or necrosis. Cardiac involvements are frequent in Fabry disease. 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 a delayed diagnosis. Enzyme replacement therapy with administration of agalsidases α and β may lead to clearance of globotriaosylceramides from cardiac capillaries and therefore left ventricular structural and functional improvement. Anticoagulant treatment is necessary for the Fabry disease patients to prevent from ischemic 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 limited patients with Fabry disease with the aid of enzyme replacement therapy. The early and mid-term follow-up results were satisfactory. The present article aims to present the pathogenesis, clinical features, diagnostic approaches and treatment strategies of the heart involvements of Fabry disease.

11 Jan, 2017
e-Published: 02 Feb, 2017


Manuscripts that are Published Ahead of Print have been peer reviewed and accepted for publication by the Editorial Board of the West Indian Medical Journal. They may appear in their original format and may not be copy edited or formatted in the style guide of this Journal. While accepted manuscripts are not yet assigned a volume, issue or page numbers, they can be cited using the DOI and date of e-publication. See our Instructions for Authors on how to properly cite manuscripts at this stage. The contents of the manuscript may change before it is published in its final form. Manuscripts in this section will be removed once they have been issued to a volume and issue, but will still retain the DOI and date of e-publication.

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