Familial Arrhythmogenic Right Ventricular Dysplasia 9

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant arrhythmogenic cardiomyopathy caused by mutations(s) in the PKP2 gene on chromosome 12p11, encoding plakophilin 2. It is characterized by right ventricular structural abnormalities and arrhythmias, electrocardiographic depolarization/repolarization changes, and sudden death.

**Synonyms:** - ARVD9