Cardiovascular involvement in patients with Fabry disease

Fabry disease (FD) is an X-linked genetic disorder of glycosphingolipid metabolism due to deficiency of lysosomal enzyme a-galactosidase A. The disease is characterized by the progressive intracellular accumulation of neutral glycosphingolipids throughout the body, including the cardiovascular system. Myocardial abnormalities are characterized mainly by parietal thickening, the most frequent abnormal structural pattern being concentric left ventricular (LV) hypertrophy. In some patients the disease mimics a typical hypertrophic obstructive cardiomyopathy. It has been reported that in some patients the cardiac involvement could be a sole manifestation of the disease. Systolic function is largely preserved in most affected individuals. In contrast, mild to moderate diastolic filling impairment is a relatively common finding. Valvular structural abnormalities are frequent due to valvular infiltration. Valvular regurgitation seems to be relatively frequent but mostly nonsignificant. Electrocardiographic changes in Fabry disease are multiple and include AV conduction abnormalities (PQ interval shortening or AV blockades), signs of LV hypertrophy and repolarization abnormalities. Cardiac symptoms in Fabry disease patients include shortness of breath on effort, vasospastic and/or exertional angina pectoris,..