Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?

Brugada syndrome is a rare arrhythmogenic syndrome associated mainly with pathogenic variants in the SCN5A gene. Right ventricle outflow tract fibrosis has been reported in some cases of patients diagnosed with Brugada syndrome. Pulmonary atresia with an intact ventricular septum is characterized by...

Full description

Bibliographic Details
Authors: Fogaça-da-Mata M, Martínez-Barrios E, Jiménez-Montañés L, Cruzalegui J, Chipa-Ccasani F, Greco A, Cesar S, Díez-Escuté N, Cerralbo P, Zschaeck I, Clavero Adell M, Ayerza-Casas A, Palanca-Arias D, López M, Campuzano O, Brugada J, Sarquella-Brugada G
Format: article
Status:Published version
Publication Date:2024
Country:España
Institution:Fundació Sant Joan de Déu
Repository:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
OAI Identifier:oai:fsjd.fundanetsuite.com:p26335
Online Access:https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=26335
Access Level:Open access
Keyword:Brugada syndrome
right ventricle outflow tract
pulmonary atresia
genetics
id ES_fbcf250b4784be4fcbf885b646543cd0
oai_identifier_str oai:fsjd.fundanetsuite.com:p26335
network_acronym_str ES
network_name_str España
repository_id_str
spelling Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?Fogaça-da-Mata MMartínez-Barrios EJiménez-Montañés LCruzalegui JChipa-Ccasani FGreco ACesar SDíez-Escuté NCerralbo PZschaeck IClavero Adell MAyerza-Casas APalanca-Arias DLópez MCampuzano OBrugada JSarquella-Brugada GBrugada syndromeright ventricle outflow tractpulmonary atresiageneticsBrugada syndrome is a rare arrhythmogenic syndrome associated mainly with pathogenic variants in the SCN5A gene. Right ventricle outflow tract fibrosis has been reported in some cases of patients diagnosed with Brugada syndrome. Pulmonary atresia with an intact ventricular septum is characterized by the lack of a functional pulmonary valve, due to the underdevelopment of the right ventricle outflow tract. We report, for the first time, a 4-year-old boy with pulmonary atresia with an intact ventricular septum who harbored a pathogenic de novo variant in SCN5A, and the ajmaline test unmasked a type-1 Brugada pattern. We suggest that deleterious variants in the SCN5A gene could be implicated in pulmonary atresia with an intact ventricular septum embryogenesis, leading to overlapping phenotypes.MDPI2024info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=26335GenesISSN: 20734425reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déuinstname:Fundació Sant Joan de DéuInglésinfo:eu-repo/semantics/openAccessoai:fsjd.fundanetsuite.com:p263352026-05-27T12:37:41Z
dc.title.none.fl_str_mv Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?
title Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?
spellingShingle Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?
Fogaça-da-Mata M
Brugada syndrome
right ventricle outflow tract
pulmonary atresia
genetics
title_short Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?
title_full Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?
title_fullStr Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?
title_full_unstemmed Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?
title_sort Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?
dc.creator.none.fl_str_mv Fogaça-da-Mata M
Martínez-Barrios E
Jiménez-Montañés L
Cruzalegui J
Chipa-Ccasani F
Greco A
Cesar S
Díez-Escuté N
Cerralbo P
Zschaeck I
Clavero Adell M
Ayerza-Casas A
Palanca-Arias D
López M
Campuzano O
Brugada J
Sarquella-Brugada G
author Fogaça-da-Mata M
author_facet Fogaça-da-Mata M
Martínez-Barrios E
Jiménez-Montañés L
Cruzalegui J
Chipa-Ccasani F
Greco A
Cesar S
Díez-Escuté N
Cerralbo P
Zschaeck I
Clavero Adell M
Ayerza-Casas A
Palanca-Arias D
López M
Campuzano O
Brugada J
Sarquella-Brugada G
author_role author
author2 Martínez-Barrios E
Jiménez-Montañés L
Cruzalegui J
Chipa-Ccasani F
Greco A
Cesar S
Díez-Escuté N
Cerralbo P
Zschaeck I
Clavero Adell M
Ayerza-Casas A
Palanca-Arias D
López M
Campuzano O
Brugada J
Sarquella-Brugada G
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Brugada syndrome
right ventricle outflow tract
pulmonary atresia
genetics
topic Brugada syndrome
right ventricle outflow tract
pulmonary atresia
genetics
description Brugada syndrome is a rare arrhythmogenic syndrome associated mainly with pathogenic variants in the SCN5A gene. Right ventricle outflow tract fibrosis has been reported in some cases of patients diagnosed with Brugada syndrome. Pulmonary atresia with an intact ventricular septum is characterized by the lack of a functional pulmonary valve, due to the underdevelopment of the right ventricle outflow tract. We report, for the first time, a 4-year-old boy with pulmonary atresia with an intact ventricular septum who harbored a pathogenic de novo variant in SCN5A, and the ajmaline test unmasked a type-1 Brugada pattern. We suggest that deleterious variants in the SCN5A gene could be implicated in pulmonary atresia with an intact ventricular septum embryogenesis, leading to overlapping phenotypes.
publishDate 2024
dc.date.none.fl_str_mv 2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=26335
url https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=26335
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv Genes
ISSN: 20734425
reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname:Fundació Sant Joan de Déu
instname_str Fundació Sant Joan de Déu
reponame_str r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
collection r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869425363991396352
score 15,812429

Similar Items