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

Abstract

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.

Arrhythmogenic Right Ventricular Cardiomyopathy in Children: A Systematic Review

“…Currently, numerous genetic determinants and phenotypic manifestations have been discovered in ARVD/C. Most cases are inherited as an autosomal dominant trait, with incomplete penetrance and variable expressivity, but isolated cases, apparently sporadic, have also been cited [6]. The importance of an early diagnosis is supported by a higher risk of sudden cardiac death in the pediatric population, probably due to more frequent myocarditis-like episodes with consequent electrical instability [7].…”