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3.4.5 Arrhythmogenic right ventricular cardiomyopathy
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Published:November 2023
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Abstract
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heredo-familial heart muscle disease characterized by progressive myocardial atrophy with fibrofatty replacement. It is a rare disease with an estimated prevalence of 1:2000 to 1:5000. Pathogenic mutations are identified in about 50% of probands, mostly in genes encoding desmosomal proteins. ARVC is a major cause of life-threatening ventricular arrhythmias at risk of sudden death in the young. A less common presentation is heart failure mimicking dilated cardiomyopathy. Risk stratification is a major clinical challenge, and sport disqualification is lifesaving. Antiarrhythmic drugs, catheter ablation, and implantable cardioverter–defibrillator are the therapeutic tools. The diagnostic criteria have been updated to improve diagnostic sensitivity while maintaining specificity. The identification of biventricular and left ventricular variants, through genotype–phenotype studies, including contrast-enhanced cardiac magnetic resonance imaging, supports the use of the broader term ‘arrhythmogenic cardiomyopathy’. The recently proposed international consensus guidelines for diagnosis will be discussed.
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