Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that predominantly affects the right ventricle (RV). The main pathologic feature is the progressive loss of RV myocardium and its replacement by fibrofatty tissue. The condition was initially believed to be a developmental defect of the RV myocardium, leading to the original designation of “dysplasia”. This concept has evolved over the last 25 years into the current perspective of a genetically determined “cardiomyopathy”. The estimated prevalence of ARVC in the general population ranges from 1 in 2000 to 1 in 5000. A familial background has been demonstrated in 30–50% of ARVC cases. Clinical manifestations develop most often between the second and third decade of life and are related to ventricular tachycardia (VT) or ventricular fibrillation (VF) which may lead to sudden death, mostly in young people. Later in the disease evolution, progression of RV muscle disease and left ventricular (LV) involvement may result in right or biventricular heart failure. Ventricular arrhythmias are worse during or immediately after exercise, and participation in competitive athletics has been associated with an increased risk for sudden death. Clinical diagnosis of ARVC is often difficult due to the non-specific nature of disease features and the broad spectrum of phenotypic manifestation, ranging from severe to concealed forms. Early detection and preventive therapy of young individuals at highest risk of experiencing sudden cardiac death may modify the natural history of the disease.

In 2000 we published in the Education in Heart series a comprehensive review of the diagnosis, prognosis and treatment of ARVC.1 Since this publication, advances in the genetic background, epidemiology, clinical diagnosis, imaging, and treatment have provided significant new insights into the management of ARVC patients.2 This article offers an up-to-date perspective on molecular genetics, clinical and imaging diagnosis, risk stratification and …