Case Report: Mutation in NPPA Gene As a Cause of Fibrotic Atrial Myopathy

Detalhes bibliográficos
Autor(a) principal: Silva Cunha, P
Data de Publicação: 2023
Outros Autores: Antunes, D, Laranjo, S, Coutinho, A, Abecasis, J, Oliveira, MM
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.17/4758
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 Report: Mutation in NPPA Gene As a Cause of Fibrotic Atrial MyopathyHSM CARNPPA GeneAtrial FibrillationAtrial MyopathyFibrosisMutation Genetics.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.Frontiers Media SARepositório do Centro Hospitalar Universitário de Lisboa Central, EPESilva Cunha, PAntunes, DLaranjo, SCoutinho, AAbecasis, JOliveira, MM2023-12-05T16:03:01Z20232023-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/4758engFront Cardiovasc Med . 2023 Jun 8:10:1149717.10.3389/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:RCAAP2023-12-10T05:41:51Zoai:repositorio.chlc.min-saude.pt:10400.17/4758Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T00:42:09.121774Repositório 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: Mutation in NPPA Gene As a Cause of Fibrotic Atrial Myopathy
spellingShingle Case Report: Mutation in NPPA Gene As a Cause of Fibrotic Atrial Myopathy
Silva Cunha, P
HSM CAR
NPPA Gene
Atrial Fibrillation
Atrial Myopathy
Fibrosis
Mutation Genetics.
title_short Case Report: Mutation in NPPA Gene As a Cause of Fibrotic Atrial Myopathy
title_full Case Report: Mutation in NPPA Gene As a Cause of Fibrotic Atrial Myopathy
title_fullStr Case Report: Mutation in NPPA Gene As a Cause of Fibrotic Atrial Myopathy
title_full_unstemmed Case Report: Mutation in NPPA Gene As a Cause of Fibrotic Atrial Myopathy
title_sort Case Report: Mutation in NPPA Gene As a Cause of Fibrotic Atrial Myopathy
author Silva Cunha, P
author_facet Silva Cunha, P
Antunes, D
Laranjo, S
Coutinho, A
Abecasis, J
Oliveira, MM
author_role author
author2 Antunes, D
Laranjo, S
Coutinho, A
Abecasis, J
Oliveira, MM
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE
dc.contributor.author.fl_str_mv Silva Cunha, P
Antunes, D
Laranjo, S
Coutinho, A
Abecasis, J
Oliveira, MM
dc.subject.por.fl_str_mv HSM CAR
NPPA Gene
Atrial Fibrillation
Atrial Myopathy
Fibrosis
Mutation Genetics.
topic HSM CAR
NPPA Gene
Atrial Fibrillation
Atrial Myopathy
Fibrosis
Mutation Genetics.
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 2023-12-05T16:03:01Z
2023
2023-01-01T00:00:00Z
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 http://hdl.handle.net/10400.17/4758
url http://hdl.handle.net/10400.17/4758
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Front Cardiovasc Med . 2023 Jun 8:10:1149717.
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.publisher.none.fl_str_mv Frontiers Media SA
publisher.none.fl_str_mv Frontiers Media SA
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
repository.mail.fl_str_mv
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