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Uhl anomaly MeSH Supplementary Concept Data 2024


MeSH Supplementary
Uhl anomaly
Unique ID
C536932
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536932
Entry Term(s)
Parchment right ventricle
Uhl's anomaly
Registry Number
0
Heading Mapped to
*Cardiomyopathy, Dilated
*Heart Defects, Congenital
Frequency
26
Note
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 of Entry
2010/08/25
Revision Date
2016/09/29
Uhl anomaly Preferred
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