Uhl anomaly [Supplementary Concept]
A congenital heart defect that affects the right ventricle. It is characterized by cardiomyopathy and fibrofatty replacement of the right ventricular MYOCARDIUM, resulting in ventricular arrhythmia and increased risk for sudden cardiac death. It is caused by mutations in the TRANSFORMING GROWTH FACTOR BETA3 (TGFB3) gene. OMIM: 107970
Date introduced: August 25, 2010
MeSH Unique ID: C536932
Heading Mapped to:
Entry Terms:
- Parchment right ventricle
- Uhl's anomaly