Arrhythmogenic Ventricular Cardiomyopathy

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.)

Keywords

• cardiac magnetic resonance
• cardiomyopathy
• echocardiography
• genetic disorders
• phenotype