The Role of Molecular Autopsy in Concealed Cardiomyopathies.

A conclusive and early diagnosis of cardiomyopathy is essential for implementing preventive therapeutic measures and, therefore, reducing the risk of malignant arrhythmias and even sudden cardiac death. Occasionally, this lethal event can be the first manifestation of cardiomyopathy, with or without...

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Detalhes bibliográficos
Autores: Campuzano O, Tirón C, Martínez-Barrios E, Greco A, Cruzalegui J, Chipa F, Cesar S, Merchan EF, Coll M, Fernández-Falgueras A, Brugada R, Ortega M, Molina N, Barberia E, Toro R, Oliva A, Grassi S, Sarquella-Brugada G
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2025
País:España
Recursos:Fundació Sant Joan de Déu
Repositorio:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
OAI Identifier:oai:fsjd.fundanetsuite.com:p29489
Acesso em linha:https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=29489
Access Level:acceso abierto
Palavra-chave:arrhythmias
concealed cardiomyopathies
forensics
genetics
molecular autopsy
sudden cardiac death
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spelling The Role of Molecular Autopsy in Concealed Cardiomyopathies.Campuzano OTirón CMartínez-Barrios EGreco ACruzalegui JChipa FCesar SMerchan EFColl MFernández-Falgueras ABrugada ROrtega MMolina NBarberia EToro ROliva AGrassi SSarquella-Brugada Garrhythmiasconcealed cardiomyopathiesforensicsgeneticsmolecular autopsysudden cardiac deathA conclusive and early diagnosis of cardiomyopathy is essential for implementing preventive therapeutic measures and, therefore, reducing the risk of malignant arrhythmias and even sudden cardiac death. Occasionally, this lethal event can be the first manifestation of cardiomyopathy, with or without a clear structural defect. In cases of sudden death, especially in young patients, the autopsy may be ambiguous and therefore lack a definitive diagnosis of cardiomyopathy, although it can sometimes identify signs that lead us to suspect it. This is one of the current challenges of forensic science, where occult cardiomyopathies often remain unidentified without additional testing that is not routinely included in current forensic protocols. In this protocol, it is crucial to perform a molecular autopsy but also to include additional data, especially family history, that will help conclude or at least suspect this entity. Obtaining this diagnosis or suspicion of concealed cardiomyopathy not only provides an answer to the unexpected death but also helps the relatives determine the cause of death. In addition, physicians should initiate a family assessment to identify other family members who may be at risk early and adopt personalized preventive measures.MDPI2025info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=29489GenesISSN: 20734425reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déuinstname:Fundació Sant Joan de DéuInglésinfo:eu-repo/semantics/openAccessoai:fsjd.fundanetsuite.com:p294892026-05-27T12:37:41Z
dc.title.none.fl_str_mv The Role of Molecular Autopsy in Concealed Cardiomyopathies.
title The Role of Molecular Autopsy in Concealed Cardiomyopathies.
spellingShingle The Role of Molecular Autopsy in Concealed Cardiomyopathies.
Campuzano O
arrhythmias
concealed cardiomyopathies
forensics
genetics
molecular autopsy
sudden cardiac death
title_short The Role of Molecular Autopsy in Concealed Cardiomyopathies.
title_full The Role of Molecular Autopsy in Concealed Cardiomyopathies.
title_fullStr The Role of Molecular Autopsy in Concealed Cardiomyopathies.
title_full_unstemmed The Role of Molecular Autopsy in Concealed Cardiomyopathies.
title_sort The Role of Molecular Autopsy in Concealed Cardiomyopathies.
dc.creator.none.fl_str_mv Campuzano O
Tirón C
Martínez-Barrios E
Greco A
Cruzalegui J
Chipa F
Cesar S
Merchan EF
Coll M
Fernández-Falgueras A
Brugada R
Ortega M
Molina N
Barberia E
Toro R
Oliva A
Grassi S
Sarquella-Brugada G
author Campuzano O
author_facet Campuzano O
Tirón C
Martínez-Barrios E
Greco A
Cruzalegui J
Chipa F
Cesar S
Merchan EF
Coll M
Fernández-Falgueras A
Brugada R
Ortega M
Molina N
Barberia E
Toro R
Oliva A
Grassi S
Sarquella-Brugada G
author_role author
author2 Tirón C
Martínez-Barrios E
Greco A
Cruzalegui J
Chipa F
Cesar S
Merchan EF
Coll M
Fernández-Falgueras A
Brugada R
Ortega M
Molina N
Barberia E
Toro R
Oliva A
Grassi S
Sarquella-Brugada G
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv arrhythmias
concealed cardiomyopathies
forensics
genetics
molecular autopsy
sudden cardiac death
topic arrhythmias
concealed cardiomyopathies
forensics
genetics
molecular autopsy
sudden cardiac death
description A conclusive and early diagnosis of cardiomyopathy is essential for implementing preventive therapeutic measures and, therefore, reducing the risk of malignant arrhythmias and even sudden cardiac death. Occasionally, this lethal event can be the first manifestation of cardiomyopathy, with or without a clear structural defect. In cases of sudden death, especially in young patients, the autopsy may be ambiguous and therefore lack a definitive diagnosis of cardiomyopathy, although it can sometimes identify signs that lead us to suspect it. This is one of the current challenges of forensic science, where occult cardiomyopathies often remain unidentified without additional testing that is not routinely included in current forensic protocols. In this protocol, it is crucial to perform a molecular autopsy but also to include additional data, especially family history, that will help conclude or at least suspect this entity. Obtaining this diagnosis or suspicion of concealed cardiomyopathy not only provides an answer to the unexpected death but also helps the relatives determine the cause of death. In addition, physicians should initiate a family assessment to identify other family members who may be at risk early and adopt personalized preventive measures.
publishDate 2025
dc.date.none.fl_str_mv 2025
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=29489
url https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=29489
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv Genes
ISSN: 20734425
reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname:Fundació Sant Joan de Déu
instname_str Fundació Sant Joan de Déu
reponame_str r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
collection r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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