Arrhythmogenic Right Ventricular Cardiomyopathy: The Role of Genetics in Diagnosis, Management, and Screening

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a predominantly autosomal dominant genetic condition in which fibrous and fatty tissue infiltrate and replace healthy myocardial tissue. This uncommon yet debilitating condition can cause ventricular arrhythmias, cardiac failure, and sudden cardiac death. Management focuses primarily on prevention of syndrome sequelae in order to prevent morbidity and mortality. Genetic testing and screening in affected families, although utilized clinically, has not yet been incorporated in guidelines due to lack of larger studies and data. We aim herein to identify causative gene mutations, present advancements in diagnosis and management, and describe the role of genetic screening and counseling in patients with ARVC. With the advancement of genetic testing and therapy, diseases such as ARVC may become more accurately diagnosed and more effectively managed, ultimately significantly reducing morbidity and mortality.

Cardiol Res. 2022;13(4):177-184
doi: https://doi.org/10.14740/cr1373