AB47-5: Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular cardiomyopathy in the Netherlands

In at least 50% of cases Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is a familial disease with an autosomal dominant mode of inheritance. Diagnosis is based on clinical criteria proposed by a Task Force in 1994. The recent identification of mutations in the plakophilin-2 (PKP2) gene in 27% of ARVC patients suggests an important role for this gene in this disorder. This will facilitate early identification of persons at risk. Our goal was to assess the prevalence of PKP2 mutations in patients with (supposedly) ARVC in four Dutch tertiary referral centers.