Arrhythmogenic right ventricular cardiomyopathy / dysplasia: pathogenesis, diagnosis and therapy

Arrhythmogenic right ventricular cardiomyopathy / dysplasia (ARVC / D) is a genetic disease associated with mutations in proteins of the intercalated discs, mainly in desmosomes. It presents classically with fibro-fatty infiltration of the right ventricle although biventricular and left-dominant subtypes have also been described. The mutations lead to electromechanical instability triggering ventricular arrhythmias and even sudden cardiac death, especially in young athletes. At later stages, it can lead to right or biventricular heart failure. Diagnostic criteria were established in 2010 as the Task Force Criteria incorporating structural, histological, electrical and genetic abnormalities. Common differential diagnoses are, the mostly benign, idiopathic ventricular tachycardia of the right ventricular outflow tract, sarcoidosis, myocarditis, Brugada syndrome and dilated cardiomyopathy. The therapy includes sports restriction, antiarrhythmic drugs such as beta-blockers, endocardial/epicardial catheter ablation and the implantation of cardioverter-defibrillators as the key prevention from sudden cardiac death.