Arrythmogenic right ventricular cardiomyopathy

Abstract

<h3>Key points</h3> 1. A cause of arrhythmias and sudden death. 2. Usually in young males during exertion. 3. Transmural fat macroscopically with thinning and scarring in both ventricles. 4. Heart may be macroscopically normal. 5. Microscopically transmural fat and fibrosis with focal inflammation usually on epicardial surface of right and left ventricle. Fat infiltration alone is not pathological. 6. Histological changes may be focal in the right ventricular outflow tract. 7. Be wary and do not diagnose in obesity, coronary artery disease and in the elderly. The classification of cardiomyopathies is now based more on genetic and pathogenetic mechanisms. Gene mutations distinguish cytoskeleton (cytoskeletalopathies, e.g. DCM or ARVC), sarco-meric (sarcomyopathies as in HCM and RCM) and ion channel (channelopathies, e.g., long or short QT syndrome and Brugada's syndrome) cardiomyopathies. Cardiomyopathies, previously considered single entities, are the result of mutations in different genes. Different mutations in the same gene may be the cause of different clinical entities. Large phenotypic and genetic heterogeneity exists. Arrhythmogenic cardiomyopathy (ARVC) was the last cardiomyopathy to be described back in the 1990 s and its pathogenesis remains controversial both pathologically and genetically. Both the right and left ventricle can be involved with transmural fat infiltration and fibrosis.