Autosomal Recessive Nonsyndromic Arrhythmogenic Right Ventricular Cardiomyopathy without Cutaneous Involvements: A Novel Mutation

What is it about?

This article presents a mutation in the intronic section of PKP2 gene in a patient with Arrhythmogenic Right Ventricular Cardiomyopathy.

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Why is it important?

We showed a novel recessive mutation in PKP2 gene as the most important gene involved in the pathogenesis of Arrhythmogenic Right Ventricular Cardiomyopathy. This novel mutation was recessive, but was not associated with cutaneous involvement rather than other recessive mutations in PKP2 gene (i.e. Naxos and Carvajal syndromes).