Treatment modalities and prognosis of two arrhythmogenic right ventricular cardiomyopathy patients with familial PKP2 mutations

Arrhythmogenic right ventricular cardiomyopathy (ARVC) poses a diagnostic challenge due to incomplete penetrance of culprit genes and variable clinical presentation. We describe the diagnostic and therapeutic challenges in two males, Han Chinese “definite ARVC” patients with a familial heterozygous PKP2 mutation. Patient A, 72-year-old, with a 20 years' history of ARVC and recurrent ventricular tachycardia requiring cardioversion, radiofrequency ablation, and implantable cardiac devices implantation, and patient B, a 64-year-old with a 4-year history of ARVC with PKP2, DES, and TTN mutations. Due to the variable presentation of ARVC, tailored follow-up, and management of patients is paramount and more research is necessary to unveil pathogenic mutations in undiscovered genes. Further studies showing the relationship of genetic phenotypes and the clinical presentation of ARVC are essential.