Abstract
A 24-year-old male was referred to a hospital after a medical check-up revealed frequent premature ventricular contractions and non-sustained ventricular tachycardias. He was diagnosed with arrhythmogenic right ventricular cardiomyopathy (ARVC) and treated with a beta-blocker and limited exercise. In 4 years, the patient suddenly collapsed due to ventricular fibrillation right after playing basketball. Although a bystander performed CPR and electrical defibrillation was performed repeatedly, the patient died. An autopsy revealed, ARVC. We then, performed a genetic analysis and indentified a mutation of PKP2 (c.C2119T, p. Q707X). Plakophilin-2 (PKP2) is an essential protein forming the desmosomal complex, and disruption of desmosome leads to the loss of cell to cell connection, which in turn causes ARVC. In this short report, we present an autopsy case of ARVC caused by a mutation of PKP2.
