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Background

There is an increasing body of evidence showing that penetrance and risk of ventricular arrhythmias (VA) differs among genes in arrhythmogenic right ventricular cardiomyopathy (ARVC). However, guidelines recommend a one-size-fits-all screening approach to monitor at-risk relatives. As such, there is a need for gene specific family screening protocols to monitor these individuals.

Objective

Determine the probability and predictors of definite ARVC diagnosis and VA among at-risk relatives harboring a (likely) pathogenic (LP/P) plakophilin-2 (PKP2) variant.

Methods

We included all relatives harboring a LP/P PKP2 variant referred for family screening from 5 US and Dutch centers. Relatives underwent ECG, Holter monitor, and cardiac imaging at baseline and follow-up. Subjects were divided by baseline clinical phenotype as defined by the 2010 Task Force Criteria (TFC):“possible ARVC”(only genetic …