Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?
Por:
Fogaça-da-Mata M, Martínez-Barrios E, Jiménez-Montañés L, Cruzalegui JC, Chipa-Ccasani F, Greco A, César-Díaz S, Nuria Díez Escuté, Patricia Cerralbo Martín, Zschaeck-Luzardo I, Clavero Adell M, Ayerza-Casas A, Palanca-Arias D, López M, Campuzano O, Brugada-Terradellas J and Sarquella-Brugada G
Publicada:
1 may 2024
Ahead of Print:
17 may 2024
Resumen:
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.
Filiaciones:
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
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
Jiménez-Montañés L:
Pediatric Cardiology Unit, University Hospital Miguel Servet, 50009 Zaragoza, Spain
Cruzalegui JC:
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
:
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
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
César-Díaz 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
Nuria Díez Escuté:
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 Martín:
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
Zschaeck-Luzardo 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
Clavero Adell M:
Pediatric Cardiology Unit, University Hospital Miguel Servet, 50009 Zaragoza, Spain
Ayerza-Casas A:
Pediatric Cardiology Unit, University Hospital Miguel Servet, 50009 Zaragoza, Spain
Palanca-Arias D:
Pediatric Cardiology Unit, University Hospital Miguel Servet, 50009 Zaragoza, Spain
López M:
Pediatric Cardiology Unit, University Hospital Miguel Servet, 50009 Zaragoza, Spain
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
Brugada-Terradellas J:
Centro de Investigación Biomédica en Red, Enfermedades Cardiovasculares, 28029 Madrid, Spain
Arrhythmias Unit, Hospital Clinic de Barcelona, Universitat de Barcelona, 08036 Barcelona, Spain
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
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