Genetics of channelopathies associated with sudden cardiac death

Recent technological advances in cardiology have resulted in new guidelines for the diagnosis, treatment and prevention of diseases. Despite these improvements, sudden death remains one of the main challenges to clinicians because the majority of diseases associated with sudden cardiac death are cha...

ver descrição completa

Detalhes bibliográficos
Autores: Campuzano Larrea, Oscar, Sarquella Brugada, Geòrgia, Brugada, Ramon, Brugada Terradellas, Josep
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2015
País:España
Recursos:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:10256/12549
Acesso em linha:http://hdl.handle.net/10256/12549
Access Level:acceso abierto
Palavra-chave:Mort sobtada
Sudden death
Arítmia
Arrhythmia
Cor -- Malalties -- Aspectes genètics
Heart -- Diseases -- Genetic aspects
id ES_8ee06bbd09f788d2f99b36f6e0537e15
oai_identifier_str oai:recercat.cat:10256/12549
network_acronym_str ES
network_name_str España
repository_id_str
spelling Genetics of channelopathies associated with sudden cardiac deathCampuzano Larrea, OscarSarquella Brugada, GeòrgiaBrugada, RamonBrugada Terradellas, JosepMort sobtadaSudden deathArítmiaArrhythmiaCor -- Malalties -- Aspectes genèticsHeart -- Diseases -- Genetic aspectsRecent technological advances in cardiology have resulted in new guidelines for the diagnosis, treatment and prevention of diseases. Despite these improvements, sudden death remains one of the main challenges to clinicians because the majority of diseases associated with sudden cardiac death are characterized by incomplete penetrance and variable expressivity. Hence, patients may be unaware of their illness, and physical activity can be the trigger for syncope as first symptom of the disease. Most common causes of sudden cardiac death are congenital alterations and structural heart diseases, although a significant number remain unexplained after comprehensive autopsy. In these unresolved cases, channelopathies are considered the first potential cause of death. Since all these diseases are of genetic origin, family members could be at risk, despite being asymptomatic. Genetics has also benefited from technological advances, and genetic testing has been incorporated into the sudden death field, identifying the cause in clinically affected patients, asymptomatic family members and post-mortem cases without conclusive diagnosis. This review focuses on recent advances in the genetics of channelopathies associated with sudden cardiac deathHamad bin Khalifa University Press2015info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/10256/12549Global Cardiology Science and Practice, 2015, núm. 3, p. 39Articles publicats (D-CM)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)Inglésinfo:eu-repo/semantics/altIdentifier/doi/10.5339/gcsp.2015.39info:eu-repo/semantics/altIdentifier/issn/2305-7823Attribution 3.0 Spainhttp://creativecommons.org/licenses/by/3.0/es/info:eu-repo/semantics/openAccessoai:recercat.cat:10256/125492026-05-29T05:05:01Z
dc.title.none.fl_str_mv Genetics of channelopathies associated with sudden cardiac death
title Genetics of channelopathies associated with sudden cardiac death
spellingShingle Genetics of channelopathies associated with sudden cardiac death
Campuzano Larrea, Oscar
Mort sobtada
Sudden death
Arítmia
Arrhythmia
Cor -- Malalties -- Aspectes genètics
Heart -- Diseases -- Genetic aspects
title_short Genetics of channelopathies associated with sudden cardiac death
title_full Genetics of channelopathies associated with sudden cardiac death
title_fullStr Genetics of channelopathies associated with sudden cardiac death
title_full_unstemmed Genetics of channelopathies associated with sudden cardiac death
title_sort Genetics of channelopathies associated with sudden cardiac death
dc.creator.none.fl_str_mv Campuzano Larrea, Oscar
Sarquella Brugada, Geòrgia
Brugada, Ramon
Brugada Terradellas, Josep
author Campuzano Larrea, Oscar
author_facet Campuzano Larrea, Oscar
Sarquella Brugada, Geòrgia
Brugada, Ramon
Brugada Terradellas, Josep
author_role author
author2 Sarquella Brugada, Geòrgia
Brugada, Ramon
Brugada Terradellas, Josep
author2_role author
author
author
dc.subject.none.fl_str_mv Mort sobtada
Sudden death
Arítmia
Arrhythmia
Cor -- Malalties -- Aspectes genètics
Heart -- Diseases -- Genetic aspects
topic Mort sobtada
Sudden death
Arítmia
Arrhythmia
Cor -- Malalties -- Aspectes genètics
Heart -- Diseases -- Genetic aspects
description Recent technological advances in cardiology have resulted in new guidelines for the diagnosis, treatment and prevention of diseases. Despite these improvements, sudden death remains one of the main challenges to clinicians because the majority of diseases associated with sudden cardiac death are characterized by incomplete penetrance and variable expressivity. Hence, patients may be unaware of their illness, and physical activity can be the trigger for syncope as first symptom of the disease. Most common causes of sudden cardiac death are congenital alterations and structural heart diseases, although a significant number remain unexplained after comprehensive autopsy. In these unresolved cases, channelopathies are considered the first potential cause of death. Since all these diseases are of genetic origin, family members could be at risk, despite being asymptomatic. Genetics has also benefited from technological advances, and genetic testing has been incorporated into the sudden death field, identifying the cause in clinically affected patients, asymptomatic family members and post-mortem cases without conclusive diagnosis. This review focuses on recent advances in the genetics of channelopathies associated with sudden cardiac death
publishDate 2015
dc.date.none.fl_str_mv 2015
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 http://hdl.handle.net/10256/12549
url http://hdl.handle.net/10256/12549
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.5339/gcsp.2015.39
info:eu-repo/semantics/altIdentifier/issn/2305-7823
dc.rights.none.fl_str_mv Attribution 3.0 Spain
http://creativecommons.org/licenses/by/3.0/es/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Attribution 3.0 Spain
http://creativecommons.org/licenses/by/3.0/es/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Hamad bin Khalifa University Press
publisher.none.fl_str_mv Hamad bin Khalifa University Press
dc.source.none.fl_str_mv Global Cardiology Science and Practice, 2015, núm. 3, p. 39
Articles publicats (D-CM)
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869413165165445120
score 15,812429

Registos relacionados