Synopsis:
Fabry disease is a rare inherited metabolic disorder caused by the deficient activity of α-galactosidase A. Cardiac involvement is 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 a delayed diagnosis. The management strategies, including enzyme replacement, anticoagulant treatment, pacemaker implantation and surgical interventions, warrant further elucidations.
