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A novel desmin mutation causing severe left ventricular arrhythmogenic cardiomyopathy/dysplasia.

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Arrhythmogenic cardiomyopathy/dysplasia (AC) is a hereditary disorder characterized by degeneration of cardiomyocytes and their subsequent replacement by fat and fibrous tissue mainly, but not exclusively, in the right ventricle (RV)… Click to show full abstract

Arrhythmogenic cardiomyopathy/dysplasia (AC) is a hereditary disorder characterized by degeneration of cardiomyocytes and their subsequent replacement by fat and fibrous tissue mainly, but not exclusively, in the right ventricle (RV) (1-3). Such changes lead to conduction abnormalities that provide the substrate for arrhythmogenesis (4,5).

Keywords: arrhythmogenic cardiomyopathy; novel desmin; desmin mutation; cardiomyopathy dysplasia

Journal Title: Journal of thoracic disease
Year Published: 2018

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