Arrythmogenic right ventricular cardiomyopathy (ARVC) is a genetic form of cardiomyopathy causing fibro-fatty replacement of the myocardium. Although usually transmission is autosomal dominant, 12 genes encoding cardiac desmosomes have been found to be closely linked to this disease process shifting the congenital disease theory to a genetic one. The categorisation of ARVC as a myocyte adhesion disorder was first suggested by a molecular genetic study involving patients with Naxos disease. Misnomeric to only affect the right ventricle, ARVC also affects the left ventricle - culminating into biventricular failure as a long term prognosis. Epidemiology is well established with a male to female preponderance. It is currently the second most common cause of sudden cardiac death (SCD) in population < 35 yrs. Pathological basis of the varied clinical presentation is explained at the molecular level with myocardial atrophy, fibro-fatty replacement and chamber dilatation. Diagnosing the condition by ruling out the pitfall differentials is an enormous challenge due to the broad phenotypic spectrum including syncope on one end and SCD on the other. Task Force Criteria combines electrocardiography (ECG), echocardiography (ECHO), cardiac magnetic resonance imaging (CMRI), myocardial biopsy for diagnosis; early detection, family screening and risk stratification being the cornerstones. Therapeutic options although limited due to the progressive nature of the disease is based on preventing life threatening arrhythmias encompassing primary and secondary prevention - Implantable cardioverter -defibrillator (ICD) implantation, radiofrequency ablation and heart transplantation are the main ones.
Part of the book: Cardiomyopathy