Arrhythmogenic Ventricular Cardiomyopathy: Challenges With Complex Genetics and Variable Phenotypes

Authors

• Aranyak S. Rawal, University of Tennessee Health Science Center
• Tara VanCleave, Sutherland Cardiology Clinic
• Neeraja Yedlapati, University of Tennessee Health Science Center
• Jeffery E. Saffitz, Harvard Medical School
• William James Craigen, Baylor College of Medicine
• John L. Jefferies, University of Tennessee Health Science Center

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.)

Publication Title

Jacc Case Reports

Recommended Citation

Rawal, A., VanCleave, T., Yedlapati, N., Saffitz, J., Craigen, W., & Jefferies, J. (2021). Arrhythmogenic Ventricular Cardiomyopathy: Challenges With Complex Genetics and Variable Phenotypes. Jacc Case Reports, 3 (3), 438-442. https://doi.org/10.1016/j.jaccas.2020.12.012