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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Arrhythmogenic right-ventricular dysplasia/cardiomyopathy.

PURPOSE OF REVIEW: 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. RECENT FINDINGS: 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. SUMMARY: 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.[1]


  1. Arrhythmogenic right-ventricular dysplasia/cardiomyopathy. Calkins, H. Current opinion in cardiology. (2006) [Pubmed]
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