A Rare Cause of Hypertrophic Cardiomyopathy: Fabry's Disease

Fabry's disease is a X-linked genetic disorder caused by deficiency of lysosomal enzyme alpha-galactosidase A. This mechanism results in progressive accumulation of glycosphingolipid metabolites within different tissues and organs. By histopathological examination, glycosphingolipid deposits appear as lamellate membrane like structures also named myeloid or Zebra bodies. Clinical manifestations include angiokeratomas, left ventricular hypertrophy, cardiac arrhythmias, renal insufficiency, cerebrovascular accidents, and hypohidrosis. Diagnosis of Anderson-Fabry disease requires a high degree of suspicion, enzyme assays and gene typing as appropriate. Fabry's disease can be treated with enzyme replacement therapy. This review provides a summary of current knowledge regarding genetics, signs and symptoms, diagnosis and therapeutic options for patients with Fabry's disease.