| Background | This gene belongs to the TMEM43 family. Defects in this
gene are the cause of familial arrhythmogenic right ventricular
dysplasia type 5 (ARVD5), also known as arrhythmogenic right
ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right
ventricular dysplasia is an inherited disorder, often involving
both ventricles, and is characterized by ventricular tachycardia,
heart failure, sudden cardiac death, and fibrofatty replacement of
cardiomyocytes. This gene contains a response element for PPAR
gamma (an adipogenic transcription factor), which may explain the
fibrofatty replacement of the myocardium, a characteristic
pathological finding in ARVC. |
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