The Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

Abstract

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a rare disease characterized by progressive fibrofatty replacement of the myocardium, primarily involving the right ventricle (RV). The structural changes in the ventricular myocardium form a substrate for ventricular arrhythmia ranging from premature ventricular complexes to ventricular tachycardia typically of RV origin and may result in RV failure and progress to congestive heart failure at a later stage. ARVC/D is a recognized cause of sudden cardiac death in young people, but it may occur at any age. With the discovery of underlying pathogenic mutations involved in the disease development and insight from long-term follow-up of ARVC/D patients, ARVC/D is an inherited cardiomyopathy. Mutations in at least eight genes have been involved in ARVC/D genesis in 30-50% of patients. Most of these genes are involved in the function of desmosomes, which are structures that attach heart muscle cells to one another. Desmosomes provide strength to the myocardium and play a role in signaling between neighboring cells. Mutations in the genes responsible for ARVC/D often impair the normal desmosomal function. There has been significant advancement in the diagnosis and management of ARVC/D in the past few decades. This chapter provides an overview of ARVC/D pathophysiology, clinical presentations, diagnosis, and management.