Case report of heterotaxy syndrome with sinus node dysfunction and left ventricular hypertrabeculation: clinical and genetic insights

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We present the case of a 41-year-old woman with left atrial isomerism, severe sinus node dysfunction, and left ventricular hypertrabeculation, who required implantation of a dual-chamber implantable cardioverter-defibrillator with left bundle branch area pacing. Her family history revealed multiple...

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Detalles Bibliográficos
Autores: Matta, María Gabriela, Dhonde, Prithviraj, Dababneh, Edward, Gopalapillai, Vaseekaran, Sciberras, Clayton, Ng, Kevin, Essack, Nasser Mohamed
Formato: artículo
Fecha de Publicación:2025
Institución:Instituto Nacional Cardiovascular
Repositorio:Archivos peruanos de cardiología y cirugía cardiovascular
Lenguaje:inglés
OAI Identifier:oai:apcyccv.org.pe:article/496
Enlace del recurso:https://apcyccv.org.pe/index.php/apccc/article/view/496
Nivel de acceso:acceso abierto
Materia:Heterotaxy Syndrome
Sick Sinus Syndrome
Ventricular Dysfunction
Genetic Diseases
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spelling Case report of heterotaxy syndrome with sinus node dysfunction and left ventricular hypertrabeculation: clinical and genetic insightsCase report of heterotaxy syndrome with sinus node dysfunction and left ventricular hypertrabeculation: clinical and genetic insightsMatta, María GabrielaDhonde, PrithvirajDababneh, EdwardGopalapillai, VaseekaranSciberras, ClaytonNg, KevinEssack, Nasser MohamedMatta, María GabrielaDhonde, PrithvirajDababneh, EdwardGopalapillai, VaseekaranSciberras, ClaytonNg, KevinEssack, Nasser MohamedHeterotaxy SyndromeSick Sinus SyndromeVentricular DysfunctionGenetic DiseasesHeterotaxy SyndromeSick Sinus SyndromeVentricular DysfunctionGenetic DiseasesWe present the case of a 41-year-old woman with left atrial isomerism, severe sinus node dysfunction, and left ventricular hypertrabeculation, who required implantation of a dual-chamber implantable cardioverter-defibrillator with left bundle branch area pacing. Her family history revealed multiple cases of heterotaxy and conduction disorders. Genetic testing identified a heterozygous interstitial duplication on chromosome 17q23.2 involving the MED13 gene, whose clinical significance has not yet been determined.We present the case of a 41-year-old woman with left atrial isomerism, severe sinus node dysfunction, and left ventricular hypertrabeculation, who required implantation of a dual-chamber implantable cardioverter-defibrillator with left bundle branch area pacing. Her family history revealed multiple cases of heterotaxy and conduction disorders. Genetic testing identified a heterozygous interstitial duplication on chromosome 17q23.2 involving the MED13 gene, whose clinical significance has not yet been determined.  Instituto Nacional Cardiovascular “Carlos Alberto Peschiera Carrillo” – INCOR, EsSalud2025-07-30info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionPeer-Review articleArtículo evaluado por paresapplication/pdfapplication/pdfhttps://apcyccv.org.pe/index.php/apccc/article/view/49610.47487/apcyccv.v6i3.496Archivos Peruanos de Cardiología y Cirugía Cardiovascular; Vol. 6 Núm. 3 (2025); 186-191Archivos Peruanos de Cardiología y Cirugía Cardiovascular; Vol. 6 No. 3 (2025); 186-1912708-721210.47487/apcyccv.v6i3reponame:Archivos peruanos de cardiología y cirugía cardiovascularinstname:Instituto Nacional Cardiovascularinstacron:INCORenghttps://apcyccv.org.pe/index.php/apccc/article/view/496/666https://apcyccv.org.pe/index.php/apccc/article/view/496/667Derechos de autor 2025 La revista es titular de la primera publicación, luego el autor dando crédito a la primera publicación.https://creativecommons.org/licenses/by/4.0info:eu-repo/semantics/openAccessoai:apcyccv.org.pe:article/4962025-09-25T01:34:58Z
dc.title.none.fl_str_mv Case report of heterotaxy syndrome with sinus node dysfunction and left ventricular hypertrabeculation: clinical and genetic insights
Case report of heterotaxy syndrome with sinus node dysfunction and left ventricular hypertrabeculation: clinical and genetic insights
title Case report of heterotaxy syndrome with sinus node dysfunction and left ventricular hypertrabeculation: clinical and genetic insights
spellingShingle Case report of heterotaxy syndrome with sinus node dysfunction and left ventricular hypertrabeculation: clinical and genetic insights
Matta, María Gabriela
Heterotaxy Syndrome
Sick Sinus Syndrome
Ventricular Dysfunction
Genetic Diseases
Heterotaxy Syndrome
Sick Sinus Syndrome
Ventricular Dysfunction
Genetic Diseases
title_short Case report of heterotaxy syndrome with sinus node dysfunction and left ventricular hypertrabeculation: clinical and genetic insights
title_full Case report of heterotaxy syndrome with sinus node dysfunction and left ventricular hypertrabeculation: clinical and genetic insights
title_fullStr Case report of heterotaxy syndrome with sinus node dysfunction and left ventricular hypertrabeculation: clinical and genetic insights
title_full_unstemmed Case report of heterotaxy syndrome with sinus node dysfunction and left ventricular hypertrabeculation: clinical and genetic insights
title_sort Case report of heterotaxy syndrome with sinus node dysfunction and left ventricular hypertrabeculation: clinical and genetic insights
dc.creator.none.fl_str_mv Matta, María Gabriela
Dhonde, Prithviraj
Dababneh, Edward
Gopalapillai, Vaseekaran
Sciberras, Clayton
Ng, Kevin
Essack, Nasser Mohamed
Matta, María Gabriela
Dhonde, Prithviraj
Dababneh, Edward
Gopalapillai, Vaseekaran
Sciberras, Clayton
Ng, Kevin
Essack, Nasser Mohamed
author Matta, María Gabriela
author_facet Matta, María Gabriela
Dhonde, Prithviraj
Dababneh, Edward
Gopalapillai, Vaseekaran
Sciberras, Clayton
Ng, Kevin
Essack, Nasser Mohamed
author_role author
author2 Dhonde, Prithviraj
Dababneh, Edward
Gopalapillai, Vaseekaran
Sciberras, Clayton
Ng, Kevin
Essack, Nasser Mohamed
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv Heterotaxy Syndrome
Sick Sinus Syndrome
Ventricular Dysfunction
Genetic Diseases
Heterotaxy Syndrome
Sick Sinus Syndrome
Ventricular Dysfunction
Genetic Diseases
topic Heterotaxy Syndrome
Sick Sinus Syndrome
Ventricular Dysfunction
Genetic Diseases
Heterotaxy Syndrome
Sick Sinus Syndrome
Ventricular Dysfunction
Genetic Diseases
description We present the case of a 41-year-old woman with left atrial isomerism, severe sinus node dysfunction, and left ventricular hypertrabeculation, who required implantation of a dual-chamber implantable cardioverter-defibrillator with left bundle branch area pacing. Her family history revealed multiple cases of heterotaxy and conduction disorders. Genetic testing identified a heterozygous interstitial duplication on chromosome 17q23.2 involving the MED13 gene, whose clinical significance has not yet been determined.
publishDate 2025
dc.date.none.fl_str_mv 2025-07-30
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
Peer-Review article
Artículo evaluado por pares
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://apcyccv.org.pe/index.php/apccc/article/view/496
10.47487/apcyccv.v6i3.496
url https://apcyccv.org.pe/index.php/apccc/article/view/496
identifier_str_mv 10.47487/apcyccv.v6i3.496
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv https://apcyccv.org.pe/index.php/apccc/article/view/496/666
https://apcyccv.org.pe/index.php/apccc/article/view/496/667
dc.rights.none.fl_str_mv https://creativecommons.org/licenses/by/4.0
info:eu-repo/semantics/openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by/4.0
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Instituto Nacional Cardiovascular “Carlos Alberto Peschiera Carrillo” – INCOR, EsSalud
publisher.none.fl_str_mv Instituto Nacional Cardiovascular “Carlos Alberto Peschiera Carrillo” – INCOR, EsSalud
dc.source.none.fl_str_mv Archivos Peruanos de Cardiología y Cirugía Cardiovascular; Vol. 6 Núm. 3 (2025); 186-191
Archivos Peruanos de Cardiología y Cirugía Cardiovascular; Vol. 6 No. 3 (2025); 186-191
2708-7212
10.47487/apcyccv.v6i3
reponame:Archivos peruanos de cardiología y cirugía cardiovascular
instname:Instituto Nacional Cardiovascular
instacron:INCOR
instname_str Instituto Nacional Cardiovascular
instacron_str INCOR
institution INCOR
reponame_str Archivos peruanos de cardiología y cirugía cardiovascular
collection Archivos peruanos de cardiología y cirugía cardiovascular
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1846800967288225792
score 12.837637
Case report of heterotaxy syndrome with sinus node dysfunction and left ventricular hypertrabeculation: clinical and genetic insights
Nota importante:
La información contenida en este registro es de entera responsabilidad de la institución que gestiona el repositorio institucional donde esta contenido este documento o set de datos. El CONCYTEC no se hace responsable por los contenidos (publicaciones y/o datos) accesibles a través del Repositorio Nacional Digital de Ciencia, Tecnología e Innovación de Acceso Abierto (ALICIA).

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