Perspective:

ARVC is a familial condition characterized by development of ventricular arrhythmias and heart failure. Diagnosis is made on the basis of 2010 TFC that classifies individuals as possible, borderline, or definite ARVC. Disease expression for the condition is highly variable with different individuals within the same family demonstrating different clinical phenotypes despite having identical genetic pathogenic variants. Current guidelines, however, do not take variable disease expression into account and provide blanket recommendations for screening due to paucity of data.

This study includes one of largest cohorts of ARVC relatives and provides more data on “who, how, and when” for ARVC screening. It suggests that relatives aged 20-30 years, those with symptoms, or those with borderline ARVC need more aggressive and frequent (possibly annual) screening. Similarly, screening for relatives with possible ARVC can be spaced out to possibly every 5 years. It also provides reassuring data that the risk for heart failure and ventricular arrhythmias is quite low and was only noted in relatives who had definite ARVC on screening, suggesting benefit for screening. Despite being among the largest cohorts of ARVC families, the sample size, however, was too homogenous to identify if genetic mutation altered this risk for ARVC development and data on exercise were not available. Accordingly, other studies need to evaluate the impact of other genetic and nongenetic modifiers that may impact disease penetrance.