Arrhythmogenic cardiomyopathy

Abstract

Arrhythmogenic cardiomyopathy (ACM) is a progressive heart muscle disease characterized by ventricular fibrofatty replacemen. Patients typically present between the 2nd and 4th decade of life with exercise-induced tachycardia episodes, but sudden death at already young age also occurs. A large subcategory of ACM is arrhythmogenic right ventricular cardiomyopathy (ARVC) in which the right ventricle is primarily affected. However, the left ventricle is also frequently involved and predominantly LV disease may also occur. The causative genes frequently encode proteins of mechanical cell junctions (JUP, PKP2, DSG2, DSC2, DSP) and account for intercalated disk remodeling. ARVD/C is inherited as an autosomal-dominant trait, with variable expression. The diagnosis is made according to a set of Task Force criteria from 2011, which are based on family history, depolarization and repolarization abnormalities, ventricular arrhythmias with a LBBB morphology, functional and structural alterations of the RV, and fibro-fatty replacement in endomyocardial biopsy. Twodimensional echocardiography, cineangiography and magnetic resonance are the imaging tools to visualize structural-functional abnormalities. The main differential diagnoses are idiopathic RVOT tachycardia, myocarditis and sarcoidosis. Palliative therapy consists of antiarrhythmic drugs, catheter ablation and ICD. Young age, proband status, overt left ventricular involvement, VT, syncope and previous cardiac arrest are the major risk factors for adverse prognosis.