Current Concepts on Diagnosis and Prognosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an uncommon cardiac disease characterized by progressive right ventricular dysfunction due to fibrofatty replacement of myocytes and risk of sudden cardiac death from malignant arrhythmias. ARVC/D is a disease of the cardiac desmosome, with genetic mutations in genes encoding proteins critical to this structure found in the majority of patients. The diagnosis of ARVC/D is based on fulfilling a combination of clinical, imaging, pathologic, and/or genetic criteria set forth by the 2010 modified Task Force Criteria. Cardiac magnetic resonance (CMR) is included in these criteria and plays an important role in the management of ARVC/D, demonstrating pathologic structural changes in the right and left ventricles that provide both diagnostic and prognostic information. The purpose of this article is to provide a background on the pathophysiology and genetics of ARVC/D and focus on the role of CMR in management of ARVC/D including diagnosis, prognosis, and treatment decisions. Common CMR pitfalls that can lead to misdiagnosis will also be reviewed.