Recommendations for genetic testing in cardiology: Review of major international guidelines

Detalhes bibliográficos
Autor(a) principal: Sousa, A
Data de Publicação: 2020
Outros Autores: Moldovan, O, Lebreiro, A, Bourbon, M, António, N, Rato, Q, Rodrigues, P, Toste, A, Gonçalves Rocha, M, Oliveira, R, Granja, S, Cruz, C, Almeida, J, Martins, E
Tipo de documento: Artigo
Idioma: por
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: https://hdl.handle.net/10216/143571
Resumo: In recent years, the importance of genetic causes of cardiovascular diseases has been increasingly recognized, as the result of significant advances in molecular diagnosis techniques. This growing knowledge has enabled the identification of new phenotypes and the subclassification of clinical syndromes, impacting the therapeutic approach and genetic counseling offered to affected families. This paper describes the state of the art of genetic testing in the main cardiovascular diseases, aiming to provide a useful tool to help cardiologists and other health professionals involved in the care of individuals with hereditary heart diseases and their families.
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spelling Recommendations for genetic testing in cardiology: Review of major international guidelinesGenetic testingInherited cardiovascular diseasesIn recent years, the importance of genetic causes of cardiovascular diseases has been increasingly recognized, as the result of significant advances in molecular diagnosis techniques. This growing knowledge has enabled the identification of new phenotypes and the subclassification of clinical syndromes, impacting the therapeutic approach and genetic counseling offered to affected families. This paper describes the state of the art of genetic testing in the main cardiovascular diseases, aiming to provide a useful tool to help cardiologists and other health professionals involved in the care of individuals with hereditary heart diseases and their families.Elsevier20202020-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/10216/143571por0870-255110.1016/j.repc.2020.03.016Sousa, AMoldovan, OLebreiro, ABourbon, MAntónio, NRato, QRodrigues, PToste, AGonçalves Rocha, MOliveira, RGranja, SCruz, CAlmeida, JMartins, Einfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-11-29T14:50:21Zoai:repositorio-aberto.up.pt:10216/143571Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T00:09:43.357875Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Recommendations for genetic testing in cardiology: Review of major international guidelines
title Recommendations for genetic testing in cardiology: Review of major international guidelines
spellingShingle Recommendations for genetic testing in cardiology: Review of major international guidelines
Sousa, A
Genetic testing
Inherited cardiovascular diseases
title_short Recommendations for genetic testing in cardiology: Review of major international guidelines
title_full Recommendations for genetic testing in cardiology: Review of major international guidelines
title_fullStr Recommendations for genetic testing in cardiology: Review of major international guidelines
title_full_unstemmed Recommendations for genetic testing in cardiology: Review of major international guidelines
title_sort Recommendations for genetic testing in cardiology: Review of major international guidelines
author Sousa, A
author_facet Sousa, A
Moldovan, O
Lebreiro, A
Bourbon, M
António, N
Rato, Q
Rodrigues, P
Toste, A
Gonçalves Rocha, M
Oliveira, R
Granja, S
Cruz, C
Almeida, J
Martins, E
author_role author
author2 Moldovan, O
Lebreiro, A
Bourbon, M
António, N
Rato, Q
Rodrigues, P
Toste, A
Gonçalves Rocha, M
Oliveira, R
Granja, S
Cruz, C
Almeida, J
Martins, E
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Sousa, A
Moldovan, O
Lebreiro, A
Bourbon, M
António, N
Rato, Q
Rodrigues, P
Toste, A
Gonçalves Rocha, M
Oliveira, R
Granja, S
Cruz, C
Almeida, J
Martins, E
dc.subject.por.fl_str_mv Genetic testing
Inherited cardiovascular diseases
topic Genetic testing
Inherited cardiovascular diseases
description In recent years, the importance of genetic causes of cardiovascular diseases has been increasingly recognized, as the result of significant advances in molecular diagnosis techniques. This growing knowledge has enabled the identification of new phenotypes and the subclassification of clinical syndromes, impacting the therapeutic approach and genetic counseling offered to affected families. This paper describes the state of the art of genetic testing in the main cardiovascular diseases, aiming to provide a useful tool to help cardiologists and other health professionals involved in the care of individuals with hereditary heart diseases and their families.
publishDate 2020
dc.date.none.fl_str_mv 2020
2020-01-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://hdl.handle.net/10216/143571
url https://hdl.handle.net/10216/143571
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv 0870-2551
10.1016/j.repc.2020.03.016
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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