Case report

Detalhes bibliográficos
Autor(a) principal: Silva Cunha, Pedro
Data de Publicação: 2023
Outros Autores: Antunes, Diana Oliveira, Laranjo, Sérgio, Coutinho, Ana, Abecasis, João, Oliveira, Mário Martins
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10362/155559
Resumo: Early-onset atrial fibrillation (AF) can be the manifestation of a genetic atrial myopathy. However, specific genetic identification of a mutation causing atrial fibrosis is rare. We report a case of a young patient with an asymptomatic AF, diagnosed during a routine examination. The cardiac MRI revealed extensive atrial fibrosis and the electrophysiology study showed extensive areas of low voltage. The genetic investigation identified a homozygous pathogenic variant in the NPPA gene in the index case and the presence of the variant in heterozygosity in both parents.
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spelling Case reportMutation in NPPA gene as a cause of fibrotic atrial myopathyatrial fibrillationatrial myopathyfibrosismutation—geneticsNPPA geneCardiology and Cardiovascular MedicineEarly-onset atrial fibrillation (AF) can be the manifestation of a genetic atrial myopathy. However, specific genetic identification of a mutation causing atrial fibrosis is rare. We report a case of a young patient with an asymptomatic AF, diagnosed during a routine examination. The cardiac MRI revealed extensive atrial fibrosis and the electrophysiology study showed extensive areas of low voltage. The genetic investigation identified a homozygous pathogenic variant in the NPPA gene in the index case and the presence of the variant in heterozygosity in both parents.NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)RUNSilva Cunha, PedroAntunes, Diana OliveiraLaranjo, SérgioCoutinho, AnaAbecasis, JoãoOliveira, Mário Martins2023-07-19T22:16:17Z2023-06-082023-06-08T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10362/155559eng2297-055XPURE: 66761858https://doi.org/10.3389/fcvm.2023.1149717info: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:RCAAP2024-03-11T05:38:11Zoai:run.unl.pt:10362/155559Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:56:07.840808Repositório 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 Case report
Mutation in NPPA gene as a cause of fibrotic atrial myopathy
title Case report
spellingShingle Case report
Silva Cunha, Pedro
atrial fibrillation
atrial myopathy
fibrosis
mutation—genetics
NPPA gene
Cardiology and Cardiovascular Medicine
title_short Case report
title_full Case report
title_fullStr Case report
title_full_unstemmed Case report
title_sort Case report
author Silva Cunha, Pedro
author_facet Silva Cunha, Pedro
Antunes, Diana Oliveira
Laranjo, Sérgio
Coutinho, Ana
Abecasis, João
Oliveira, Mário Martins
author_role author
author2 Antunes, Diana Oliveira
Laranjo, Sérgio
Coutinho, Ana
Abecasis, João
Oliveira, Mário Martins
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
RUN
dc.contributor.author.fl_str_mv Silva Cunha, Pedro
Antunes, Diana Oliveira
Laranjo, Sérgio
Coutinho, Ana
Abecasis, João
Oliveira, Mário Martins
dc.subject.por.fl_str_mv atrial fibrillation
atrial myopathy
fibrosis
mutation—genetics
NPPA gene
Cardiology and Cardiovascular Medicine
topic atrial fibrillation
atrial myopathy
fibrosis
mutation—genetics
NPPA gene
Cardiology and Cardiovascular Medicine
description Early-onset atrial fibrillation (AF) can be the manifestation of a genetic atrial myopathy. However, specific genetic identification of a mutation causing atrial fibrosis is rare. We report a case of a young patient with an asymptomatic AF, diagnosed during a routine examination. The cardiac MRI revealed extensive atrial fibrosis and the electrophysiology study showed extensive areas of low voltage. The genetic investigation identified a homozygous pathogenic variant in the NPPA gene in the index case and the presence of the variant in heterozygosity in both parents.
publishDate 2023
dc.date.none.fl_str_mv 2023-07-19T22:16:17Z
2023-06-08
2023-06-08T00:00:00Z
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 http://hdl.handle.net/10362/155559
url http://hdl.handle.net/10362/155559
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 2297-055X
PURE: 66761858
https://doi.org/10.3389/fcvm.2023.1149717
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.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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