Arrhythmogenic Ventricular Cardiomyopathy

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 p...

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Bibliographic Details
Main Authors: Aranyak S. Rawal, MD, Tara VanCleave, BS, Neeraja Yedlapati, MD, Jeffery E. Saffitz, MD, PhD, William James Craigen, MD, PhD, John L. Jefferies, MD, MPH
Format: Article
Language:English
Published: Elsevier 2021-03-01
Series:JACC: Case Reports
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2666084920314613
Description
Summary: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.)
ISSN:2666-0849