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

Humans Pulmonary Atresia / genetics Male Brugada Syndrome / genetics Child, Preschool NAV1.5 Voltage-Gated Sodium Channel / genetics Heart Defects, Congenital / genetics Ventricular Septum / pathology
Brugada syndrome genetics pulmonary atresia right ventricle outflow tract

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
17 May 2024
Historique:
received: 01 04 2024
revised: 15 05 2024
accepted: 16 05 2024
medline: 25 5 2024
pubmed: 25 5 2024
entrez: 25 5 2024
Statut: epublish

Résumé

Brugada syndrome is a rare arrhythmogenic syndrome associated mainly with pathogenic variants in the

Identifiants

DOI: 10.3390/genes15050638 PMID: 38790267
pubmed: 38790267
pii: genes15050638
doi: 10.3390/genes15050638
pii:
doi:

Substances chimiques

NAV1.5 Voltage-Gated Sodium Channel 0
SCN5A protein, human 0

Types de publication

Case Reports

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : obra social la caixa
ID : LCF/PR/GN19/50320002

Auteurs

Miguel Fogaça-da-Mata (M)

Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, 08950 Barcelona, Spain.
Pediatric Cardiology Unit, Hospital de Santa Cruz, Centro Hospitalar Lisboa Ocidental, 1449-005 Lisbon, Portugal.
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands.

Estefanía Martínez-Barrios (E)

Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, 08950 Barcelona, Spain.
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands.
Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, Esplugues de Llobregat, 08950 Barcelona, Spain.
Medical Science Department, School of Medicine, Universitat de Girona, 17003 Girona, Spain.

Lorenzo Jiménez-Montañés (L)

Pediatric Cardiology Unit, University Hospital Miguel Servet, 50009 Zaragoza, Spain.

José Cruzalegui (J)

Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, 08950 Barcelona, Spain.
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands.
Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, Esplugues de Llobregat, 08950 Barcelona, Spain.

Fredy Chipa-Ccasani (F)

Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, 08950 Barcelona, Spain.
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands.
Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, Esplugues de Llobregat, 08950 Barcelona, Spain.

Andrea Greco (A)

Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, 08950 Barcelona, Spain.
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands.
Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, Esplugues de Llobregat, 08950 Barcelona, Spain.

Sergi Cesar (S)

Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, 08950 Barcelona, Spain.
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands.
Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, Esplugues de Llobregat, 08950 Barcelona, Spain.
ORCID: 0000-0002-2798-1756

Núria Díez-Escuté (N)

Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, 08950 Barcelona, Spain.
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands.
Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, Esplugues de Llobregat, 08950 Barcelona, Spain.

Patricia Cerralbo (P)

Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, 08950 Barcelona, Spain.
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands.
Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, Esplugues de Llobregat, 08950 Barcelona, Spain.

Irene Zschaeck (I)

Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, 08950 Barcelona, Spain.
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands.
Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, Esplugues de Llobregat, 08950 Barcelona, Spain.

Marcos Clavero Adell (M)

Pediatric Cardiology Unit, University Hospital Miguel Servet, 50009 Zaragoza, Spain.

Ariadna Ayerza-Casas (A)

Pediatric Cardiology Unit, University Hospital Miguel Servet, 50009 Zaragoza, Spain.
ORCID: 0000-0002-0023-8137

Daniel Palanca-Arias (D)

Pediatric Cardiology Unit, University Hospital Miguel Servet, 50009 Zaragoza, Spain.
ORCID: 0000-0003-3042-8422

Marta López (M)

Pediatric Cardiology Unit, University Hospital Miguel Servet, 50009 Zaragoza, Spain.

Oscar Campuzano (O)

Medical Science Department, School of Medicine, Universitat de Girona, 17003 Girona, Spain.
Centro de Investigación Biomédica en Red, Enfermedades Cardiovasculares, 28029 Madrid, Spain.
Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190 Girona, Spain.
ORCID: 0000-0001-5298-5276

Josep Brugada (J)

Centro de Investigación Biomédica en Red, Enfermedades Cardiovasculares, 28029 Madrid, Spain.
Arrhythmias Unit, Hospital Clinic de Barcelona, Universitat de Barcelona, 08036 Barcelona, Spain.
ORCID: 0000-0002-5662-8302

Georgia Sarquella-Brugada (G)

Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, 08950 Barcelona, Spain.
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands.
Arrítmies Pediàtriques, Cardiologia Genètica i Mort Sobtada, Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, Esplugues de Llobregat, 08950 Barcelona, Spain.
Medical Science Department, School of Medicine, Universitat de Girona, 17003 Girona, Spain.
Department of Surgery and Medico-Surgical Specialties, School of Medicine and Health Sciences, Universitat de Barcelona, 08036 Barcelona, Spain.
ORCID: 0000-0002-6857-8904

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Brugada Syndrome and Pulmonary Atresia with...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations cardiovasculaires › Anomalies vasculaires › Atrésie pulmonaire › Brugada Syndrome and Pulmonary Atresia with...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Syndrome de Brugada › Brugada Syndrome and Pulmonary Atresia with...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › Brugada Syndrome and Pulmonary Atresia with...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de tissu nerveux › Canaux sodiques voltage-dépendants › Canal sodique voltage-dépendant NAV1.5 › Brugada Syndrome and Pulmonary Atresia with...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations cardiovasculaires › Cardiopathies congénitales › Brugada Syndrome and Pulmonary Atresia with...
questionsmedicales.fr › Système cardiovasculaire › Coeur › Septum du coeur › Septum interventriculaire › Brugada Syndrome and Pulmonary Atresia with...