Update on Arrhythmogenic Cardiomyopathies

Arrhythmogenic cardiomyopathy is a hereditary disease associated with mutations in genes encoding proteins of the intercalated disk, especially desmosomes, mostly affecting the young and athletes. There are three clinical subtypes: the classical right-dominant form, generally referred to as arrhythmogenic right ventricular cardiomyopathy (ARVC), biventricular forms, and left-dominant subtypes. Typical symptoms include palpitations, arrhythmic (pre)syncope, and sudden cardiac arrest due to ventricular tachycardia/ fibrillation (VT/VF). At later stages, heart failure may occur. Diagnosis of classical ARVC is established with the 2010 Task Force Criteria. The 12-lead ECG is important in the assessment of depolarisation and repolarisation abnormalities such as T-wave inversions in the precordial leads, which are the most common ECG abnormality. Imaging tools such as echocardiography and cardiac magnetic resonance are very important for detecting structural and functional alterations. Family history and the detection of causative mutations have been incorporated in the diagnostic criteria to facilitate diagnosis in family members. Differential diagnoses include idiopathic right ventricular outflow tract VT, cardiac sarcoidosis, congenital heart disease, myocarditis, dilated cardiomyopathy, Brugada syndrome, and right ventricular infarction. Therapeutic strategies include restriction from endurance and competitive sports, beta-blockers, antiarrhythmic and heart failure drugs. The implantable cardioverter-defibrillator (ICD) is the only reliable therapy for prevention of sudden cardiac death, and should be considered in intermediate- to high-risk patients. Endocardial/epicardial catheter ablation can be beneficial in patients with recurrent ICD discharges.