Arrhythmogenic Ventricular Cardiomyopathy: Challenges With Complex Genetics and Variable Phenotypes

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Rawal, Aranyak S., VanCleave, Tara, Yedlapati, Neeraja, Saffitz, Jeffery E., Craigen, William James, Jefferies, John L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Mini-Focus Issue: Heart Failure
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8311029/
https://www.ncbi.nlm.nih.gov/pubmed/34317553
http://dx.doi.org/10.1016/j.jaccas.2020.12.012
_version_ 1783728878473183232
author Rawal, Aranyak S.
VanCleave, Tara
Yedlapati, Neeraja
Saffitz, Jeffery E.
Craigen, William James
Jefferies, John L.
author_facet Rawal, Aranyak S.
VanCleave, Tara
Yedlapati, Neeraja
Saffitz, Jeffery E.
Craigen, William James
Jefferies, John L.
author_sort Rawal, Aranyak S.
collection PubMed
description 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.)
format Online
Article
Text
id pubmed-8311029
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher Elsevier
record_format MEDLINE/PubMed
spelling pubmed-83110292021-07-26 Arrhythmogenic Ventricular Cardiomyopathy: Challenges With Complex Genetics and Variable Phenotypes Rawal, Aranyak S. VanCleave, Tara Yedlapati, Neeraja Saffitz, Jeffery E. Craigen, William James Jefferies, John L. JACC Case Rep Mini-Focus Issue: Heart Failure 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.) Elsevier 2021-03-17 /pmc/articles/PMC8311029/ /pubmed/34317553 http://dx.doi.org/10.1016/j.jaccas.2020.12.012 Text en © 2021 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Mini-Focus Issue: Heart Failure
Rawal, Aranyak S.
VanCleave, Tara
Yedlapati, Neeraja
Saffitz, Jeffery E.
Craigen, William James
Jefferies, John L.
Arrhythmogenic Ventricular Cardiomyopathy: Challenges With Complex Genetics and Variable Phenotypes
title Arrhythmogenic Ventricular Cardiomyopathy: Challenges With Complex Genetics and Variable Phenotypes
title_full Arrhythmogenic Ventricular Cardiomyopathy: Challenges With Complex Genetics and Variable Phenotypes
title_fullStr Arrhythmogenic Ventricular Cardiomyopathy: Challenges With Complex Genetics and Variable Phenotypes
title_full_unstemmed Arrhythmogenic Ventricular Cardiomyopathy: Challenges With Complex Genetics and Variable Phenotypes
title_short Arrhythmogenic Ventricular Cardiomyopathy: Challenges With Complex Genetics and Variable Phenotypes
title_sort arrhythmogenic ventricular cardiomyopathy: challenges with complex genetics and variable phenotypes
topic Mini-Focus Issue: Heart Failure
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8311029/
https://www.ncbi.nlm.nih.gov/pubmed/34317553
http://dx.doi.org/10.1016/j.jaccas.2020.12.012
work_keys_str_mv AT rawalaranyaks arrhythmogenicventricularcardiomyopathychallengeswithcomplexgeneticsandvariablephenotypes
AT vancleavetara arrhythmogenicventricularcardiomyopathychallengeswithcomplexgeneticsandvariablephenotypes
AT yedlapatineeraja arrhythmogenicventricularcardiomyopathychallengeswithcomplexgeneticsandvariablephenotypes
AT saffitzjefferye arrhythmogenicventricularcardiomyopathychallengeswithcomplexgeneticsandvariablephenotypes
AT craigenwilliamjames arrhythmogenicventricularcardiomyopathychallengeswithcomplexgeneticsandvariablephenotypes
AT jefferiesjohnl arrhythmogenicventricularcardiomyopathychallengeswithcomplexgeneticsandvariablephenotypes

Ejemplares similares