Arrhythmogenic right ventricular cardiomyopathy (dysplasia): etiology, clinical presentation, diagnosis and treatment

Abstract

Abstract: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disorder characterised by progressive replacement of right ventricle myocardium by either segmental or diffuse fibro-fatty tissue, often with the involvement of the left ventricular wall and manifestations of arrhythmia. Familial occurrence with autosomal dominant inheritance, variable expression and incomplete penetrance is estimated as 1/5000. The recessive form called Naxos disease has also been reported. The etiology and pathogenesis of ARVC are still unknown. Advanced theories of inflammatory or infective etiology and possible mechanism of myocyte loss through apoptosis and/or transdifferentiation into adipocytes are presented in this article. The patterns of two distinct pathomorphology of ARVC based on the nature of myocardial replacement are also presented. The presentation encompasses the wide spectrum of clinical diagnostic features of the disease, including sudden death in the family and abnormalities in ECG, Echo, MRI, angiography, PES exhibiting morphologic and functional changes, and replacement of myocytes by fibro-fatty tissue observed in endomyocardial biopsy specimens. Special attention is drawn to the subtle clinical manifestations and ECG clues of the disease in children and young people. Treatment modalities including drug therapy, ablation, implantable cardioverter defibrillators, antiarrhythmic surgery or heart transplantation are also presented.