ABSTRACT

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.