A CASUAL SPONTANEOUS MUTATION AS POSSIBLE CAUSE OF THE FAMILIAL FORM OF ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY (ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA)

In a family affected by arrhythmogenic right ventricular cardiomyopathy (ARVC) the familial occurrence was investigated. All 14 members of two generations were investigated carefully, and only 2 (father and one son) members were affected. Both subjects had a massive form of the disease with relevant ventricular arrhythmias. Apart from the limitations of having investigated few subjects, this behavior suggests a genetic mutation appearing in the father and transmitted via an autosomal dominant trait.