Compound PKP2/DSC2 Mutations Causing Biventricular Arrhythmogenic Right Ventricular Cardiomyopathy in a Young Obese...

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare inherited disorder characterized by fibrofatty replacement of right ventricular myocardium, frequently presenting with ventricular arrhythmias and sudden cardiac death. Early diagnosis remains challenging owing to nonspecific symptoms and overlapping features with other cardiomyopathies.

This report describes a 26-year-old man who presented with recurrent palpitations and was ultimately diagnosed with ARVC caused by heterozygous PKP2 and DSC2 mutations involving the left ventricle, based on electrocardiogram, echocardiography, Holter monitoring, cardiac magnetic resonance imaging, and genetic testing. After radiofrequency ablation combined with an implantable cardioverter-defibrillator and guideline-directed medical therapy, his ventricular arrhythmias were markedly reduced, and his quality of life improved.

This case highlights the diagnostic challenges of early-stage ARVC and underscores the importance of cardiac magnetic resonance imaging and genetic testing in young patients with recurrent ventricular arrhythmias. The mutational landscape of ARVC may differ among ethnic groups within Asia. Comprehensive management, including catheter ablation, guideline-directed pharmacotherapy, and implantable cardioverter-defibrillator placement, may effectively reduce arrhythmic burden and improve prognosis.

Young adults with unexplained ventricular arrhythmias should be systematically screened for hereditary cardiomyopathies to avoid misdiagnosis and missed diagnoses. The mutational landscape of ARVC may differ among ethnic groups within Asia.