{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T16:22:40Z","timestamp":1769271760638,"version":"3.49.0"},"reference-count":16,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2024,5,17]],"date-time":"2024-05-17T00:00:00Z","timestamp":1715904000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"La Caixa Foundation","award":["LCF\/PR\/GN19\/50320002"],"award-info":[{"award-number":["LCF\/PR\/GN19\/50320002"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.3390\/genes15050638","type":"journal-article","created":{"date-parts":[[2024,5,17]],"date-time":"2024-05-17T06:53:49Z","timestamp":1715928829000},"page":"638","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?"],"prefix":"10.3390","volume":"15","author":[{"given":"Miguel","family":"Foga\u00e7a-da-Mata","sequence":"first","affiliation":[{"name":"Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de D\u00e9u, Passeig Sant Joan de D\u00e9u 2, Esplugues de Llobregat, 08950 Barcelona, Spain"},{"name":"Pediatric Cardiology Unit, Hospital de Santa Cruz, Centro Hospitalar Lisboa Ocidental, 1449-005 Lisbon, Portugal"},{"name":"European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Estefan\u00eda","family":"Mart\u00ednez-Barrios","sequence":"additional","affiliation":[{"name":"Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de D\u00e9u, Passeig Sant Joan de D\u00e9u 2, Esplugues de Llobregat, 08950 Barcelona, Spain"},{"name":"European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands"},{"name":"Arr\u00edtmies Pedi\u00e0triques, Cardiologia Gen\u00e8tica i Mort Sobtada, Institut de Recerca Sant Joan de D\u00e9u, Santa Rosa 39\u201357, Esplugues de Llobregat, 08950 Barcelona, Spain"},{"name":"Medical Science Department, School of Medicine, Universitat de Girona, 17003 Girona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorenzo","family":"Jim\u00e9nez-Monta\u00f1\u00e9s","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Unit, University Hospital Miguel Servet, 50009 Zaragoza, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9","family":"Cruzalegui","sequence":"additional","affiliation":[{"name":"Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de D\u00e9u, Passeig Sant Joan de D\u00e9u 2, Esplugues de Llobregat, 08950 Barcelona, Spain"},{"name":"European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands"},{"name":"Arr\u00edtmies Pedi\u00e0triques, Cardiologia Gen\u00e8tica i Mort Sobtada, Institut de Recerca Sant Joan de D\u00e9u, Santa Rosa 39\u201357, Esplugues de Llobregat, 08950 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fredy","family":"Chipa-Ccasani","sequence":"additional","affiliation":[{"name":"Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de D\u00e9u, Passeig Sant Joan de D\u00e9u 2, Esplugues de Llobregat, 08950 Barcelona, Spain"},{"name":"European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands"},{"name":"Arr\u00edtmies Pedi\u00e0triques, Cardiologia Gen\u00e8tica i Mort Sobtada, Institut de Recerca Sant Joan de D\u00e9u, Santa Rosa 39\u201357, Esplugues de Llobregat, 08950 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Greco","sequence":"additional","affiliation":[{"name":"Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de D\u00e9u, Passeig Sant Joan de D\u00e9u 2, Esplugues de Llobregat, 08950 Barcelona, Spain"},{"name":"European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands"},{"name":"Arr\u00edtmies Pedi\u00e0triques, Cardiologia Gen\u00e8tica i Mort Sobtada, Institut de Recerca Sant Joan de D\u00e9u, Santa Rosa 39\u201357, Esplugues de Llobregat, 08950 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2798-1756","authenticated-orcid":false,"given":"Sergi","family":"Cesar","sequence":"additional","affiliation":[{"name":"Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de D\u00e9u, Passeig Sant Joan de D\u00e9u 2, Esplugues de Llobregat, 08950 Barcelona, Spain"},{"name":"European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands"},{"name":"Arr\u00edtmies Pedi\u00e0triques, Cardiologia Gen\u00e8tica i Mort Sobtada, Institut de 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Sant Joan de D\u00e9u, Passeig Sant Joan de D\u00e9u 2, Esplugues de Llobregat, 08950 Barcelona, Spain"},{"name":"European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands"},{"name":"Arr\u00edtmies Pedi\u00e0triques, Cardiologia Gen\u00e8tica i Mort Sobtada, Institut de Recerca Sant Joan de D\u00e9u, Santa Rosa 39\u201357, Esplugues de Llobregat, 08950 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Zschaeck","sequence":"additional","affiliation":[{"name":"Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de D\u00e9u, Passeig Sant Joan de D\u00e9u 2, Esplugues de Llobregat, 08950 Barcelona, Spain"},{"name":"European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands"},{"name":"Arr\u00edtmies Pedi\u00e0triques, Cardiologia Gen\u00e8tica i Mort Sobtada, Institut de Recerca Sant Joan de D\u00e9u, Santa Rosa 39\u201357, Esplugues de Llobregat, 08950 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcos","family":"Clavero Adell","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Unit, University Hospital Miguel Servet, 50009 Zaragoza, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0023-8137","authenticated-orcid":false,"given":"Ariadna","family":"Ayerza-Casas","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Unit, University Hospital Miguel Servet, 50009 Zaragoza, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3042-8422","authenticated-orcid":false,"given":"Daniel","family":"Palanca-Arias","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Unit, University Hospital Miguel Servet, 50009 Zaragoza, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"L\u00f3pez","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Unit, University Hospital Miguel Servet, 50009 Zaragoza, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5298-5276","authenticated-orcid":false,"given":"Oscar","family":"Campuzano","sequence":"additional","affiliation":[{"name":"Medical Science Department, School of Medicine, Universitat de Girona, 17003 Girona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red, Enfermedades Cardiovasculares, 28029 Madrid, Spain"},{"name":"Cardiovascular Genetics Center, University of Girona\u2014IDIBGI, 17190 Girona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5662-8302","authenticated-orcid":false,"given":"Josep","family":"Brugada","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red, Enfermedades Cardiovasculares, 28029 Madrid, Spain"},{"name":"Arrhythmias Unit, Hospital Clinic de Barcelona, Universitat de Barcelona, 08036 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6857-8904","authenticated-orcid":false,"given":"Georgia","family":"Sarquella-Brugada","sequence":"additional","affiliation":[{"name":"Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de D\u00e9u, Passeig Sant Joan de D\u00e9u 2, Esplugues de Llobregat, 08950 Barcelona, Spain"},{"name":"European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands"},{"name":"Arr\u00edtmies Pedi\u00e0triques, Cardiologia Gen\u00e8tica i Mort Sobtada, Institut de Recerca Sant Joan de D\u00e9u, Santa Rosa 39\u201357, Esplugues de Llobregat, 08950 Barcelona, Spain"},{"name":"Medical Science Department, School of Medicine, Universitat de Girona, 17003 Girona, Spain"},{"name":"Department of Surgery and Medico-Surgical Specialties, School of Medicine and Health Sciences, Universitat de Barcelona, 08036 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,5,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1016\/j.hrthm.2022.03.1225","article-title":"European Heart Rhythm Association (EHRA)\/Heart Rhythm Society (HRS)\/Asia Pacific Heart Rhythm Society (APHRS)\/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases","volume":"19","author":"Wilde","year":"2022","journal-title":"Heart Rhythm"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1016\/j.jacc.2021.08.010","article-title":"Biventricular Myocardial Fibrosis and Sudden Death in Patients With Brugada 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