Arrhythmogenic right ventricular dysplasia.

Division of Cardiology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Progress in cardiovascular diseases (Impact Factor: 4.25). 07/2008; 51(1):31-43. DOI: 10.1016/j.pcad.2008.01.002
Source: PubMed

ABSTRACT Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited cardiomyopathy characterized by ventricular arrhythmias and structural abnormalities of the right ventricle (RV). ARVD results from progressive replacement of right ventricular myocardium with fatty and fibrous tissue. The precise prevalence of ARVD in the United States has been estimated to be 1 in 5000 of the general population. Recent evidence has made it clear that ARVD is a disease of desmosomal dysfunction. The main management consideration concerns whether to implant an ICD. Catheter ablation of VT is a largely a paliative procedure that should not be considered as an appropriate strategy to eliminate VT or reduce sudden death risk. It is likely that the recent advances in the understanding of the pathophysiologic basis of this condition will result in more targeted treatment approaches in the future.

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    ABSTRACT: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a rare but increasingly recognized form of a cardiomyopathy, involving primarily the right ventricle. Mutations in seven candidate genes coding for five desmosomal proteins (plakoglobin, plakophilin-2, desmoplakin, desmoglein-2, desmocollin-2), for the cardiac ryanodine receptor-2, for the transforming growth factor beta-3, and for the transmembrane protein 43, respectively, are pathogenetically important. A typical feature of the disease is the replacement of the right ventricular myocardium by fibrofatty infiltrates, leading to electrical instability including ventricular arrhythmias in the early stages, and reduced contractility and heart failure later on. The left ventricle may also be involved. Unfortunately, the disease is often diagnosed post mortem only, especially in young adults dying suddenly during exercise. Since the disease is inherited in up to 50% of cases, the screening of relatives is important. The implantable cardioverter defibrillator is an important therapeutic tool. Nevertheless, the mortality of the disease remains to be 2%-4% per year. Several clinical, electrocardiographic, and imaging parameters were identified as risk predictors for an adverse outcome. In this paper, we describe distinct clinical presentations of ARVC/D, review the genetic background of the disease, and discuss its diagnosis and treatment.
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