The heart in Fabry disease

Cardiac involvement is common in Fabry disease, both in hemizygous men and heterozygous women, and is one of the three major causes of morbidity and mortality. Storage of globotriaosylceramide occurs in various cells of the heart, including cardiomyocytes, conduction system cells, valvular fibroblasts, endothelial cells within all types of vessels, and vascular smooth muscle cells. Cardiac hypertrophy associated with depressed contractility and diastolic filling impairment is common. In addition, coronary insufficiency, atrioventricular conduction disturbances, arrhythmias and valvular involvement may be present. In patients with the atypical 'cardiac variant', the disease manifestations may be limited to the heart. Enzyme replacement therapy is now the treatment of choice for patients with Fabry disease, and preliminary results indicate promising effects not only on the renal and neurological manifestations of the disease but also on the cardiac manifestations.