Petrified right ventricle in long-standing Naxos arrhythmogenic right ventricular cardiomyopathy

A 19-year-old asymptomatic man was evaluated because of his sister’s sudden death due to Naxos disease, a recessive form of arrhythmogenic right ventricular (RV) cardiomyopathy associated with palmoplantar keratoderma and woolly hair. It is caused by a plakoglobin mutation. Twelve-lead ECG showed inverted T waves in V1 through V6, incomplete right bundle branch block, and epsilon waves (Figure 1). Frequent ventricular extrasystoles were recorded on a 24-hour ECG. On echocardiography and angiography, the right ventricle was dilated and diffusely hypokinetic, but the left ventricle appeared normal. During 14 years of follow-up, he had 2 episodes of well-tolerated sustained ventricular tachycardia followed by biventricular progression leading to heart failure (New York Heart Association class III to IV) without arrhythmias. The patient died at 33 years of age while waiting for heart transplantation.