Comprehensive Risk Management in Arrhythmogenic Cardiomyopathy Associated With Autosomal Dominant Carvajal Syndrome: Protecting Families

In a 37-year-old cardiac arrest survivor with autosomal dominant Carvajal syndrome and arrhythmogenic cardiomyopathy, a desmoplakin mutation was identified. Cascade screening identified 2 affected family members and 2 healthy children carrying the mutation. Strategies for primary and secondary risk...

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Autores principales: De Gregorio, Maria Grazia, Girolami, Francesca, Tomberli, Benedetta, Rossi, Guendalina, Tomberli, Alessia, Baldini, Katia, Olivotto, Iacopo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Mini-Focus Issue: Cardiomyopathies
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8302052/
https://www.ncbi.nlm.nih.gov/pubmed/34317383
http://dx.doi.org/10.1016/j.jaccas.2020.03.033
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author De Gregorio, Maria Grazia
Girolami, Francesca
Tomberli, Benedetta
Rossi, Guendalina
Tomberli, Alessia
Baldini, Katia
Olivotto, Iacopo
author_facet De Gregorio, Maria Grazia
Girolami, Francesca
Tomberli, Benedetta
Rossi, Guendalina
Tomberli, Alessia
Baldini, Katia
Olivotto, Iacopo
author_sort De Gregorio, Maria Grazia
collection PubMed
description In a 37-year-old cardiac arrest survivor with autosomal dominant Carvajal syndrome and arrhythmogenic cardiomyopathy, a desmoplakin mutation was identified. Cascade screening identified 2 affected family members and 2 healthy children carrying the mutation. Strategies for primary and secondary risk prevention emphasize the role of genetic testing in rare cardiomyopathies. (Level of Difficulty: Advanced.)
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spelling pubmed-83020522021-07-26 Comprehensive Risk Management in Arrhythmogenic Cardiomyopathy Associated With Autosomal Dominant Carvajal Syndrome: Protecting Families De Gregorio, Maria Grazia Girolami, Francesca Tomberli, Benedetta Rossi, Guendalina Tomberli, Alessia Baldini, Katia Olivotto, Iacopo JACC Case Rep Mini-Focus Issue: Cardiomyopathies In a 37-year-old cardiac arrest survivor with autosomal dominant Carvajal syndrome and arrhythmogenic cardiomyopathy, a desmoplakin mutation was identified. Cascade screening identified 2 affected family members and 2 healthy children carrying the mutation. Strategies for primary and secondary risk prevention emphasize the role of genetic testing in rare cardiomyopathies. (Level of Difficulty: Advanced.) Elsevier 2020-06-17 /pmc/articles/PMC8302052/ /pubmed/34317383 http://dx.doi.org/10.1016/j.jaccas.2020.03.033 Text en © 2020 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: Cardiomyopathies
De Gregorio, Maria Grazia
Girolami, Francesca
Tomberli, Benedetta
Rossi, Guendalina
Tomberli, Alessia
Baldini, Katia
Olivotto, Iacopo
Comprehensive Risk Management in Arrhythmogenic Cardiomyopathy Associated With Autosomal Dominant Carvajal Syndrome: Protecting Families
title Comprehensive Risk Management in Arrhythmogenic Cardiomyopathy Associated With Autosomal Dominant Carvajal Syndrome: Protecting Families
title_full Comprehensive Risk Management in Arrhythmogenic Cardiomyopathy Associated With Autosomal Dominant Carvajal Syndrome: Protecting Families
title_fullStr Comprehensive Risk Management in Arrhythmogenic Cardiomyopathy Associated With Autosomal Dominant Carvajal Syndrome: Protecting Families
title_full_unstemmed Comprehensive Risk Management in Arrhythmogenic Cardiomyopathy Associated With Autosomal Dominant Carvajal Syndrome: Protecting Families
title_short Comprehensive Risk Management in Arrhythmogenic Cardiomyopathy Associated With Autosomal Dominant Carvajal Syndrome: Protecting Families
title_sort comprehensive risk management in arrhythmogenic cardiomyopathy associated with autosomal dominant carvajal syndrome: protecting families
topic Mini-Focus Issue: Cardiomyopathies
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8302052/
https://www.ncbi.nlm.nih.gov/pubmed/34317383
http://dx.doi.org/10.1016/j.jaccas.2020.03.033
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