Genotype–phenotype correlation in arrhythmogenic right ventricular cardiomyopathy—risk of arrhythmias and heart failure

Abstract

In this large cohort of ARVC families with long-term follow-up, we found <i>PKP2</i> genotype to be more arrhythmic than <i>DSC2</i>/<i>DSG</i>2/<i>DSP</i> or gene-negative carrier status, whereas reduced LVEF was mostly seen among <i>DSC2</i>/<i>DSG</i>2/<i>DSP</i> carriers. Male sex was associated with a more severe phenotype.