Arrhythmogenic Right Ventricular Dysplasia (ARVD) With Protein Plakophilin-2 Mutation

Arrhythmogenic right ventricular dysplasia (ARVD) is a heart muscle disease that predominantly affects the right ventricle; however, biventricular involvement is increasingly being recognized. Fibrofatty tissue replacement is a central feature of ARVD. The majority of the identified genes, including protein plakophilin-2 (PKP-2), involved in cell-to-cell adhesion, can be seen in most genetic cases. Clinically, affected individuals present with palpitations, syncope, or sudden death due to ventricular arrhythmias, such as ventricular tachycardia (VT) or fibrillation, with symptomatic heart failure usually only in later stages. In this study, we present a male patient with ARVD who underwent a genetic test that revealed ARVD with PKP-2 mutation after multiple admissions for heart failure and arrhythmias. He ultimately underwent orthotopic heart transplantation (OHT). Early detection is important for further management, risk stratification, and reduced hospitalization in patients with ARVD.