Arrhythmogenic right ventricular dysplasia/cardiomyopathy-three decades of progress.

Abstract

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a rare, inherited cardiomyopathy characterized by ventricular arrhythmias, sudden cardiac death, and right ventricular dysfunction. Since the first major description of this disease, much has been learned about ARVD/C. One of the main breakthroughs was the discovery that mutations in desmosomal proteins are the most frequent genetic basis of ARVD/C. Today, genetic testing plays an important role in both the diagnosis of ARVD/C and cascade family screening. Much has also been learned concerning the optimal approaches to diagnosis. The 2010 Task Force Diagnostic criteria for ARVD/C represent the standard for diagnosis today. We have also learned much about the importance of proband status and the 24-h PVC count to assess sudden death risk, and the importance of exercise both in the development of ARVD/C in susceptible individuals and in defining the course of the disease. From a treatment perspective, placement of ICDs in specific subsets of patients with ARVD/C who are at increased risk of sudden death is important. The techniques of VT ablation have also evolved over time and are valuable components of our management strategies for the ARVD/C patient today. This review will provide an update on ARVD/C, with specific attention to some of the contributions to this field reported by the Johns Hopkins ARVD/C Program.