Article
[Myocardial disease in inherited disease].
Nihon rinsho. Japanese journal of clinical medicine - 1 Jan 2000
Nakao S
Abstract excerpt
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...
Topics
- Biomarkers
- Endocardium
- Exons
- Fabry Disease
- Humans
- Hypertrophy, Left Ventricular
- Male
- Mutation
- alpha-Galactosidase
