Arrhythmogenic Ventricular Cardiomyopathy: Challenges With Complex Genetics and Variable Phenotypes

致心律失常性室性心肌病:复杂遗传和多变表型带来的挑战

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Abstract

After a 20-year-old woman suddenly died, autopsy showed characteristic findings of biventricular arrhythmogenic cardiomyopathy. Screening of her family members revealed the same desmoplakin gene mutation and imaging abnormalities predominantly involving the left ventricle. We describe the variable phenotypic expression in a family that shares a common gene variant. (Level of Difficulty: Advanced.).

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