Desmin Mutations and Arrhythmogenic Right Ventricular Cardiomyopathy

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Arrhythmogenic Right Ventricular Cardiomyopathy

Arrythmogenic right ventricular (RV) cardiomyopathy (ARVC) is a cardiomyopathy characterized pathologically by fibrofatty replacement primarily of the RV and clinically by life-threatening ventricular arrhythmias in apparently healthy young people. The prevalence of the disease has been estimated at 1 in 5,000 individuals, although this estimate will likely increase as awareness of the conditio...

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Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is characterized by the patchy replacement of myocardium by fatty or fibrofatty tissue. These changes lead to structural abnormalities including right ventricular enlargement and wall motion abnormalities that can be detected by echocardiography, angiography, and cine MRI. ARVC/D is a genetically heterogeneous disorder, since it...

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ژورنال

عنوان ژورنال: The American Journal of Cardiology

سال: 2013

ISSN: 0002-9149

DOI: 10.1016/j.amjcard.2012.10.017