C173470Level 7
Familial Arrhythmogenic Right Ventricular Dysplasia 5
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal dominant arrhythmogenic cardiomyopathy caused by mutations(s) in the TMEM43 gene on chromosome 3p25, encoding transmembrane protein 43. It is characterized by ventricular ectopy, left ventricular dilation, heart failure, and early death.
**Synonyms:** - ARVC5 - ARVD5 - Arrhythmogenic Right Ventricular Cardiomyopathy 5
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