[Myocardial disease in inherited disease]

To detect cardiac Fabry's disease, plasma alpha-galactosidase activity was measured in 230 male patients with left ventricular hypertrophy (LVH). Seven patients were diagnosed as having cardiac Fabry's disease. They did not have typical clinical manifestations of Fabry's disease. All seven had symmetric LVH. Endomyocardial biopsies revealed marked sarcoplasmic vacuolization in all five patients examined. Typical lysosomal inclusions with a concentric lamellar configuration were observed. Two novel mutations, A20P in exon 1 and M296I in exon 6, were detected in two patients, respectively. The remaining five had no mutations in the coding region for the alpha-galactosidase gene, and had marked decreases in the amount of alpha-galactosidase mRNA. Cardiac Fabry's disease should be considered as one of the cause of LVH.