Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice

Detalhes bibliográficos
Autor(a) principal: Lamounier Júnior,Arsonval
Data de Publicação: 2019
Outros Autores: Ferrari,Filipe, Max,Renato, Ritt,Luiz Eduardo Fonteles, Stein,Ricardo
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Arquivos Brasileiros de Cardiologia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2019000800274
Resumo: Abstract Dilated cardiomyopathy (DCM) is a clinical syndrome characterized by left ventricular dilatation and contractile dysfunction. It is the most common cause of heart failure in young adults. The advent of next-generation sequencing has contributed to the discovery of a large amount of genomic data related to DCM. Mutations involving genes that encode cytoskeletal proteins, the sarcomere, and ion channels account for approximately 40% of cases previously classified as idiopathic DCM. In this scenario, geneticists and cardiovascular genetics specialists have begun to work together, building knowledge and establishing more accurate diagnoses. However, proper interpretation of genetic results is essential and multidisciplinary teams dedicated to the management and analysis of the obtained information should be considered. In this review, we approach genetic factors associated with DCM and their prognostic relevance and discuss how the use of genetic testing, when well recommended, can help cardiologists in the decision-making process.
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spelling Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical PracticeCardiomyopathy, Dilated/geneticsVentricular Dysfunction, LeftHeart FailureGenetic Testing/methodsHeart TransplantationAbstract Dilated cardiomyopathy (DCM) is a clinical syndrome characterized by left ventricular dilatation and contractile dysfunction. It is the most common cause of heart failure in young adults. The advent of next-generation sequencing has contributed to the discovery of a large amount of genomic data related to DCM. Mutations involving genes that encode cytoskeletal proteins, the sarcomere, and ion channels account for approximately 40% of cases previously classified as idiopathic DCM. In this scenario, geneticists and cardiovascular genetics specialists have begun to work together, building knowledge and establishing more accurate diagnoses. However, proper interpretation of genetic results is essential and multidisciplinary teams dedicated to the management and analysis of the obtained information should be considered. In this review, we approach genetic factors associated with DCM and their prognostic relevance and discuss how the use of genetic testing, when well recommended, can help cardiologists in the decision-making process.Sociedade Brasileira de Cardiologia - SBC2019-08-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2019000800274Arquivos Brasileiros de Cardiologia v.113 n.2 2019reponame:Arquivos Brasileiros de Cardiologia (Online)instname:Sociedade Brasileira de Cardiologia (SBC)instacron:SBC10.5935/abc.20190144info:eu-repo/semantics/openAccessLamounier Júnior,ArsonvalFerrari,FilipeMax,RenatoRitt,Luiz Eduardo FontelesStein,Ricardoeng2019-08-28T00:00:00Zoai:scielo:S0066-782X2019000800274Revistahttp://www.arquivosonline.com.br/https://old.scielo.br/oai/scielo-oai.php||arquivos@cardiol.br1678-41700066-782Xopendoar:2019-08-28T00:00Arquivos Brasileiros de Cardiologia (Online) - Sociedade Brasileira de Cardiologia (SBC)false
dc.title.none.fl_str_mv Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice
title Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice
spellingShingle Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice
Lamounier Júnior,Arsonval
Cardiomyopathy, Dilated/genetics
Ventricular Dysfunction, Left
Heart Failure
Genetic Testing/methods
Heart Transplantation
title_short Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice
title_full Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice
title_fullStr Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice
title_full_unstemmed Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice
title_sort Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice
author Lamounier Júnior,Arsonval
author_facet Lamounier Júnior,Arsonval
Ferrari,Filipe
Max,Renato
Ritt,Luiz Eduardo Fonteles
Stein,Ricardo
author_role author
author2 Ferrari,Filipe
Max,Renato
Ritt,Luiz Eduardo Fonteles
Stein,Ricardo
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Lamounier Júnior,Arsonval
Ferrari,Filipe
Max,Renato
Ritt,Luiz Eduardo Fonteles
Stein,Ricardo
dc.subject.por.fl_str_mv Cardiomyopathy, Dilated/genetics
Ventricular Dysfunction, Left
Heart Failure
Genetic Testing/methods
Heart Transplantation
topic Cardiomyopathy, Dilated/genetics
Ventricular Dysfunction, Left
Heart Failure
Genetic Testing/methods
Heart Transplantation
description Abstract Dilated cardiomyopathy (DCM) is a clinical syndrome characterized by left ventricular dilatation and contractile dysfunction. It is the most common cause of heart failure in young adults. The advent of next-generation sequencing has contributed to the discovery of a large amount of genomic data related to DCM. Mutations involving genes that encode cytoskeletal proteins, the sarcomere, and ion channels account for approximately 40% of cases previously classified as idiopathic DCM. In this scenario, geneticists and cardiovascular genetics specialists have begun to work together, building knowledge and establishing more accurate diagnoses. However, proper interpretation of genetic results is essential and multidisciplinary teams dedicated to the management and analysis of the obtained information should be considered. In this review, we approach genetic factors associated with DCM and their prognostic relevance and discuss how the use of genetic testing, when well recommended, can help cardiologists in the decision-making process.
publishDate 2019
dc.date.none.fl_str_mv 2019-08-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2019000800274
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2019000800274
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.5935/abc.20190144
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Brasileira de Cardiologia - SBC
publisher.none.fl_str_mv Sociedade Brasileira de Cardiologia - SBC
dc.source.none.fl_str_mv Arquivos Brasileiros de Cardiologia v.113 n.2 2019
reponame:Arquivos Brasileiros de Cardiologia (Online)
instname:Sociedade Brasileira de Cardiologia (SBC)
instacron:SBC
instname_str Sociedade Brasileira de Cardiologia (SBC)
instacron_str SBC
institution SBC
reponame_str Arquivos Brasileiros de Cardiologia (Online)
collection Arquivos Brasileiros de Cardiologia (Online)
repository.name.fl_str_mv Arquivos Brasileiros de Cardiologia (Online) - Sociedade Brasileira de Cardiologia (SBC)
repository.mail.fl_str_mv ||arquivos@cardiol.br
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