Logo do repositório
 
Publicação

Rare association of two genetic causes of sudden death in a young survivor

2017Artigo científico Acesso restrito
Ver registo simples
dc.contributor.authorBrito, Dulce
dc.contributor.authorMagalhães, Andreia
dc.contributor.authorDias, Nuno Cortez
dc.contributor.authorMiltenberger-Miltenyi, Gabriel
dc.date.accessioned2018-06-20T09:29:43Z
dc.date.available2018-06-20T09:29:43Z
dc.date.issued2017
dc.descriptionTodos os Direitos Reservados © Copyright 2018 | Sociedade Brasileira de Cardiologiapt_PT
dc.description.abstractIntroduction: Sudden cardiac arrest (SCA) in young adults is frequently caused by inherited cardiac diseases, particularly cardiomyopathies and ion channelopathies. 1 Genetic testing can be essential in the follow-up of survivors and today´s genetic diagnostics may include the parallel analysis of several SCA related genes, most commonly those associated with ion channelopathies and hypertrophic cardiomyopathy (HC). We present the case of a young survivor of SCA, carrier of double heterozygosity for mutations in the SNC5A and MYBPC3 genes, illustrating the complexity of genotype-phenotype associations and the difficulties of decisions regarding therapeutic interventions in inherited cardiac diseases.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationArq Bras Cardiol. 2017 Feb; 108(2): 184-186pt_PT
dc.identifier.doi10.5935/abc.20170016pt_PT
dc.identifier.issn0066-782X
dc.identifier.urihttp://hdl.handle.net/10451/33975
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSociedade Brasileira de Cardiologiapt_PT
dc.relation.publisherversionhttp://publicacoes.cardiol.br/portal/abc/portugues/2018/v11006/pt_PT
dc.subjectDeath, sudden cardiacpt_PT
dc.subjectCardiomyopathy, hypertrophic, familialpt_PT
dc.subjectAdolescentpt_PT
dc.subjectBrugada syndromept_PT
dc.titleRare association of two genetic causes of sudden death in a young survivorpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage186pt_PT
oaire.citation.issue2pt_PT
oaire.citation.startPage184pt_PT
oaire.citation.titleArquivos Brasileiros de Cardiologiapt_PT
oaire.citation.volume108pt_PT
person.familyNameMiltenberger-Miltenyi
person.givenNameGabriel
person.identifier.ciencia-idAE16-3A8D-0392
person.identifier.orcid0000-0003-0224-1281
rcaap.rightsrestrictedAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication58c7f5b7-9f9d-42b6-9b39-c53dd40a79c7
relation.isAuthorOfPublication.latestForDiscovery58c7f5b7-9f9d-42b6-9b39-c53dd40a79c7

Ficheiros

Principais
A mostrar 1 - 2 de 2
Miniatura indisponível
Nome:
Rare_association_Eng.pdf
Tamanho:
900.17 KB
Formato:
Adobe Portable Document Format
Ver/Abrir
Miniatura indisponível
Nome:
Rara_Associacao_PT.pdf
Tamanho:
513.95 KB
Formato:
Adobe Portable Document Format
Ver/Abrir
Licença
A mostrar 1 - 1 de 1
Miniatura indisponível
Nome:
license.txt
Tamanho:
1.2 KB
Formato:
Item-specific license agreed upon to submission
Descrição:
Ver/Abrir

Coleções

FM-CCUL-Artigos em Revistas Internacionais
IMM - Artigos em Revistas Internacionais