Case Report of Rare Case of Cardiac Variant of Fabry’s Disease in a 2-Year-Old Child

Abstract

AbstractFabry’s disease is caused by progressive lysosomal accumulation of neutral glycosphingolipids, primarily globotriaosylceramide. It results from deficiency of the enzyme α-galactosidase A, which is encoded by GLA on the X chromosome. Usually it presents in children as the classic variant, and the cardiac variant is extremely rare. Before labeling as cardiac variant in infants and children we should rule out other causes of the cardiac hypertrophy with left ventricular outflow tract obstruction like metabolic causes, hypertrophic cardiomyopathy in infants, Noonan’s syndrome, and nesidioblastosis.We report a case of cardiac variant of Fabry’s disease in a 2-year-old male child. On evaluation he is found to have cardiac hypertrophy with no other features of Fabry’s disease, with low α galactosidase levels with no other systemic and syndromic features, which is an extremely rare presentation.