Clinical evaluation of the family showed that the index patient's sister (individual A.3) also fulfilled diagnostic criteria for ARVC (three major and one minor criteria; Table 1) in the presence of the DSG2 G812S mutation (severe dilation and reduction of RV ejection fraction on echocardiogram, with RV outflow tract parasternal short-axis measurement of 38 mm; 700 ventricular ectopic beats on 24-hour ECG monitoring; fibrofatty replacement on endomyocardial biopsy). This evidence concerns the gene DSG2 and arrhythmogenic right ventricular cardiomyopathy.