Back to Search Start Over

Arrhythmogenic Ventricular Cardiomyopathy

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
Source :
JACC: Case Reports, Vol 3, Iss 3, Pp 438-442 (2021)
Publication Year :
2021
Publisher :
Elsevier, 2021.

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.)

Details

Language :
English
ISSN :
26660849
Volume :
3
Issue :
3
Database :
Directory of Open Access Journals
Journal :
JACC: Case Reports
Publication Type :
Academic Journal
Accession number :
edsdoj.94b605f6c91c474b8bc5824d2a11cec5
Document Type :
article
Full Text :
https://doi.org/10.1016/j.jaccas.2020.12.012