Isolated Left Ventricular Apical Hypoplasia without Lamin A/C Gene Mutation

Detalhes bibliográficos
Autor(a) principal: Manso,Paulo Henrique
Data de Publicação: 2022
Outros Autores: Suazo,Veridiana Kiill, Amaral,Fernando Tadeu Vasconcelos, Jurca,Mauro Cruz, Trad,Henrique Simão
Tipo de documento: Relatório
Idioma: eng
Título da fonte: International Journal of Cardiovascular Sciences (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-56472022000100136
Resumo: Abstract Isolated left ventricular apical hypoplasia is a rare cardiomyopathy, with a broad range of clinical presentations. Since this entity was already described in association with osteomuscular diseases, mutation in the Lamin A/C gene has been regarded as a possible cause of this disease. This study describes the case of an asymptomatic teenager with isolated left ventricular apical hypoplasia and arthrogriposis but with no mutations in the entire Lamin A/C gene.
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spelling Isolated Left Ventricular Apical Hypoplasia without Lamin A/C Gene MutationIsolated Left Ventricular/abnormalitiesCardiomyopathies/ physiopathologyLamin Type A/C/geneticsAbstract Isolated left ventricular apical hypoplasia is a rare cardiomyopathy, with a broad range of clinical presentations. Since this entity was already described in association with osteomuscular diseases, mutation in the Lamin A/C gene has been regarded as a possible cause of this disease. This study describes the case of an asymptomatic teenager with isolated left ventricular apical hypoplasia and arthrogriposis but with no mutations in the entire Lamin A/C gene.Sociedade Brasileira de Cardiologia2022-02-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-56472022000100136International Journal of Cardiovascular Sciences v.35 n.1 2022reponame:International Journal of Cardiovascular Sciences (Online)instname:Sociedade Brasileira de Cardiologia (SBC)instacron:SBC10.36660/ijcs.20200148info:eu-repo/semantics/openAccessManso,Paulo HenriqueSuazo,Veridiana KiillAmaral,Fernando Tadeu VasconcelosJurca,Mauro CruzTrad,Henrique Simãoeng2022-02-02T00:00:00Zoai:scielo:S2359-56472022000100136Revistahttp://publicacoes.cardiol.br/portal/ijcshttps://old.scielo.br/oai/scielo-oai.phptailanerodrigues@cardiol.br||revistaijcs@cardiol.br2359-56472359-4802opendoar:2022-02-02T00:00International Journal of Cardiovascular Sciences (Online) - Sociedade Brasileira de Cardiologia (SBC)false
dc.title.none.fl_str_mv Isolated Left Ventricular Apical Hypoplasia without Lamin A/C Gene Mutation
title Isolated Left Ventricular Apical Hypoplasia without Lamin A/C Gene Mutation
spellingShingle Isolated Left Ventricular Apical Hypoplasia without Lamin A/C Gene Mutation
Manso,Paulo Henrique
Isolated Left Ventricular/abnormalities
Cardiomyopathies/ physiopathology
Lamin Type A/C/genetics
title_short Isolated Left Ventricular Apical Hypoplasia without Lamin A/C Gene Mutation
title_full Isolated Left Ventricular Apical Hypoplasia without Lamin A/C Gene Mutation
title_fullStr Isolated Left Ventricular Apical Hypoplasia without Lamin A/C Gene Mutation
title_full_unstemmed Isolated Left Ventricular Apical Hypoplasia without Lamin A/C Gene Mutation
title_sort Isolated Left Ventricular Apical Hypoplasia without Lamin A/C Gene Mutation
author Manso,Paulo Henrique
author_facet Manso,Paulo Henrique
Suazo,Veridiana Kiill
Amaral,Fernando Tadeu Vasconcelos
Jurca,Mauro Cruz
Trad,Henrique Simão
author_role author
author2 Suazo,Veridiana Kiill
Amaral,Fernando Tadeu Vasconcelos
Jurca,Mauro Cruz
Trad,Henrique Simão
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Manso,Paulo Henrique
Suazo,Veridiana Kiill
Amaral,Fernando Tadeu Vasconcelos
Jurca,Mauro Cruz
Trad,Henrique Simão
dc.subject.por.fl_str_mv Isolated Left Ventricular/abnormalities
Cardiomyopathies/ physiopathology
Lamin Type A/C/genetics
topic Isolated Left Ventricular/abnormalities
Cardiomyopathies/ physiopathology
Lamin Type A/C/genetics
description Abstract Isolated left ventricular apical hypoplasia is a rare cardiomyopathy, with a broad range of clinical presentations. Since this entity was already described in association with osteomuscular diseases, mutation in the Lamin A/C gene has been regarded as a possible cause of this disease. This study describes the case of an asymptomatic teenager with isolated left ventricular apical hypoplasia and arthrogriposis but with no mutations in the entire Lamin A/C gene.
publishDate 2022
dc.date.none.fl_str_mv 2022-02-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-56472022000100136
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-56472022000100136
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.36660/ijcs.20200148
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
publisher.none.fl_str_mv Sociedade Brasileira de Cardiologia
dc.source.none.fl_str_mv International Journal of Cardiovascular Sciences v.35 n.1 2022
reponame:International Journal of Cardiovascular Sciences (Online)
instname:Sociedade Brasileira de Cardiologia (SBC)
instacron:SBC
instname_str Sociedade Brasileira de Cardiologia (SBC)
instacron_str SBC
institution SBC
reponame_str International Journal of Cardiovascular Sciences (Online)
collection International Journal of Cardiovascular Sciences (Online)
repository.name.fl_str_mv International Journal of Cardiovascular Sciences (Online) - Sociedade Brasileira de Cardiologia (SBC)
repository.mail.fl_str_mv tailanerodrigues@cardiol.br||revistaijcs@cardiol.br
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