Arrhythmogenic right-ventricular dysplasia/cardiomyopathy

Arrhythmogenic right-ventricular dysplasia is a rare inherited disease characterized by right-ventricular dysfunction and ventricular arrhythmias. The purpose of this article is to review recent developments concerning the diagnosis, genetics, and management of patients with this disease.

In the past few years important new information has emerged regarding the role of magnetic resonance imaging in the diagnosis of arrhythmogenic right-ventricular dysplasia. Although magnetic resonance imaging is a very sensitive tool, it is also the most common reason for over diagnosis of this condition. There have also been important new breakthroughs in the genetic basis of arrhythmogenic right-ventricular dysplasia; it now appears that most forms result from mutations in genes encoding desmosomal junction proteins. This may explain why arrhythmogenic right-ventricular dysplasia preferentially impacts the thin right ventricle. Other studies have demonstrated the important role of implantable cardioverter defibrillator therapy in the management of patients with arrhythmogenic right-ventricular dysplasia. In the USA, most patients who meet the Task Force criteria for the disease undergo placement of an implantable cardioverter defibrillator for prevention of sudden cardiac death.

Arrhythmogenic right-ventricular dysplasia is a rare disease. Recent new findings concerning the diagnosis and management of these patients should have direct implications regarding the evaluation and management of patients with this rare, but potentially life-threatening, disorder.