Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a type of nonischemic cardiomyopathy that involves primarily the right ventricle. It is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle. Arrhythmogenic right ventricular cardiomyopathy is caused by genetic defects of the parts of heart muscle (also called myocardium or cardiac muscle) known as desmosomes, areas on the surface of heart muscle cells which link the cells together. The desmosomes are composed of several proteins, and many of those proteins can have harmful mutations.
Arrhythmogenic right ventricular cardiomyopathy is a rare inherited heart-muscle disease that is a cause of sudden death in young people and athletes. Causative mutations in genes encoding desmosomal proteins have been identified and the disease is nowadays regarded as a genetically determined myocardial dystrophy. In many cases, the disease does not limit the quality or duration of life. However, a proportion of people with ARVC develop complications, all of which are treatable. Evaluation and follow-up by a cardiologist is therefore recommended. Clinical diagnosis can be achieved by demonstrating function and structure changes of the right ventricle, electrocardiogram depolarization and repolarization abnormalities, ventricular arrhythmias, and fibrofatty replacement through endomyocardial biopsy.