{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T22:22:25Z","timestamp":1768947745754,"version":"3.49.0"},"reference-count":35,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T00:00:00Z","timestamp":1768435200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"crossref","award":["FIS PI21\/00094"],"award-info":[{"award-number":["FIS PI21\/00094"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"crossref"}]},{"name":"European Union, Fundaci\u00f3 Bosch i Aymerich and Fundaci\u00f3 Daniel Bravo"},{"DOI":"10.13039\/501100002809","name":"Pla Estrat\u00e8gic de Recerca i Innovaci\u00f3 en Salut (PERIS), Department de Salut de la Generalitat de Catalunya","doi-asserted-by":"publisher","award":["SLT042\/25\/000012"],"award-info":[{"award-number":["SLT042\/25\/000012"]}],"id":[{"id":"10.13039\/501100002809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Deleterious variants in SCN5A lead to a wide clinical spectrum that includes pathologies characterized by life-threatening cardiac events (CEs). In the pediatric population, early identification, management, and risk stratification of these pathologies are the main current challenges. This study analyzed a Spanish pediatric cohort (\u226418 years) carrying rare SCN5A variants to explore genotype\u2013phenotype correlations. A retrospective descriptive cohort study, including clinical, demographic, and genetic data of probands and their relatives, was conducted. Out of 100 children studied, 69 had definitively deleterious SCN5A variants (26 females, 38%; median age: 3 years, IQR 1\u201312). The main diagnoses were isolated Brugada syndrome (BrS) (31; 45%); isolated long QT syndrome type 3 (LQT3) (5; 7%); isolated progressive cardiac conduction disease (PCCD) (1; 2%); isolated familial atrial fibrillation (1; 2%); overlapping phenotypes (7; 10%) including: BrS-PCCD (2; 2.8%); BrS-LQT3 (1; 1.4%); premature ventricular contraction-dilated cardiomyopathy (1; 1.4%); BrS-LQT3-PCCD (1; 1.4%); BrS-PCCD-sick sinus syndrome (SSS) (1; 1.4%) and BrS-PCCD-SSS-familial atrial fibrillation (1; 1.4%). Of them, 13 (19%) patients presented with CEs (cardiogenic syncope, ventricular tachycardia\/fibrillation, sudden cardiac arrest\/death, and appropriate implantable cardio defibrillator shock). These findings underscore the utility of genetic testing for early diagnosis, risk stratification, and personalized management, enhancing preventive strategies for CE prevention in pediatrics.<\/jats:p>","DOI":"10.3390\/ijms27020880","type":"journal-article","created":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T14:35:38Z","timestamp":1768487738000},"page":"880","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical Spectrum of Arrhythmogenic Entities in Spanish Children Carrying Deleterious SCN5A Variants"],"prefix":"10.3390","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5856-1906","authenticated-orcid":false,"given":"Estefan\u00eda","family":"Mart\u00ednez-Barrios","sequence":"first","affiliation":[{"name":"Pediatric Arrhythmias, Genetic Cardiology and Sudden Death, Institut de Recerca Sant Joan de D\u00e9u (IRSJD), Santa Rosa 39-57, Esplugues de Llobregat, 08950 Barcelona, Spain"},{"name":"Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Department of Cardiology, Hospital Sant Joan de D\u00e9u Barcelona, 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"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9","family":"Cruzalegui","sequence":"additional","affiliation":[{"name":"Pediatric Arrhythmias, Genetic Cardiology and Sudden Death, Institut de Recerca Sant Joan de D\u00e9u (IRSJD), Santa Rosa 39-57, Esplugues de Llobregat, 08950 Barcelona, Spain"},{"name":"Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Department of Cardiology, Hospital Sant Joan de D\u00e9u Barcelona, 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"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Hidalgo-Sanuy","sequence":"additional","affiliation":[{"name":"Pediatric Arrhythmias, Genetic Cardiology and Sudden Death, Institut de Recerca Sant Joan de D\u00e9u (IRSJD), Santa Rosa 39-57, Esplugues de Llobregat, 08950 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2863-3195","authenticated-orcid":false,"given":"Andrea","family":"Greco","sequence":"additional","affiliation":[{"name":"Pediatric Arrhythmias, Genetic Cardiology and Sudden Death, Institut de Recerca Sant Joan de D\u00e9u (IRSJD), Santa Rosa 39-57, Esplugues de Llobregat, 08950 Barcelona, Spain"},{"name":"Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Department of Cardiology, Hospital Sant Joan de D\u00e9u Barcelona, 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"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2798-1756","authenticated-orcid":false,"given":"Sergi","family":"Cesar","sequence":"additional","affiliation":[{"name":"Pediatric Arrhythmias, Genetic Cardiology and Sudden Death, Institut de Recerca Sant Joan de D\u00e9u (IRSJD), Santa Rosa 39-57, Esplugues de Llobregat, 08950 Barcelona, Spain"},{"name":"Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Department of Cardiology, Hospital Sant Joan de D\u00e9u Barcelona, 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"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fredy","family":"Chipa","sequence":"additional","affiliation":[{"name":"Pediatric Arrhythmias, Genetic Cardiology and Sudden Death, Institut de Recerca Sant Joan de D\u00e9u (IRSJD), Santa Rosa 39-57, Esplugues de Llobregat, 08950 Barcelona, Spain"},{"name":"Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Department of Cardiology, Hospital Sant Joan de D\u00e9u Barcelona, 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"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuria","family":"D\u00edez-Escut\u00e9","sequence":"additional","affiliation":[{"name":"Pediatric Arrhythmias, Genetic Cardiology and Sudden Death, Institut de Recerca Sant Joan de D\u00e9u (IRSJD), Santa Rosa 39-57, Esplugues de Llobregat, 08950 Barcelona, Spain"},{"name":"Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Department of Cardiology, Hospital Sant Joan de D\u00e9u Barcelona, 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"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Cerralbo","sequence":"additional","affiliation":[{"name":"Pediatric Arrhythmias, Genetic Cardiology and Sudden Death, Institut de Recerca Sant Joan de D\u00e9u (IRSJD), Santa Rosa 39-57, Esplugues de Llobregat, 08950 Barcelona, Spain"},{"name":"Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Department of Cardiology, Hospital Sant Joan de D\u00e9u Barcelona, 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"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Zschaeck","sequence":"additional","affiliation":[{"name":"Pediatric Arrhythmias, Genetic Cardiology and Sudden Death, Institut de Recerca Sant Joan de D\u00e9u (IRSJD), Santa Rosa 39-57, 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"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernanda","family":"Merch\u00e1n","sequence":"additional","affiliation":[{"name":"Pediatric Arrhythmias, Genetic Cardiology and Sudden Death, Institut de Recerca Sant Joan de D\u00e9u (IRSJD), Santa Rosa 39-57, Esplugues de Llobregat, 08950 Barcelona, Spain"},{"name":"Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Department of Cardiology, Hospital Sant Joan de D\u00e9u Barcelona, 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"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sol Balcells","family":"Mejia","sequence":"additional","affiliation":[{"name":"Statistical Advising Service, Fundaci\u00f3 de Recerca Sant Joan de D\u00e9u, Santa Rosa 39-57, 08950 Esplugues de Llobregat, 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 (CIBERCV), 28029 Madrid, Spain"},{"name":"Arrhythmias Unit, Hospital Clinic, University of Barcelona, 08036 Barcelona, 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":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red, Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain"},{"name":"Medical Science Department, School of Medicine, Universitat de Girona, 17003 Girona, Spain"},{"name":"Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Girona (IDIBGI-CERCA), Parc Hospitalari Mart\u00ed i Juli\u00e0, Edifici M2, 17190 Salt, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgia","family":"Sarquella-Brugada","sequence":"additional","affiliation":[{"name":"Pediatric Arrhythmias, Genetic Cardiology and Sudden Death, Institut de Recerca Sant Joan de D\u00e9u (IRSJD), Santa Rosa 39-57, Esplugues de Llobregat, 08950 Barcelona, Spain"},{"name":"Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Department of Cardiology, Hospital Sant Joan de D\u00e9u Barcelona, 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":"Medical Science Department, School of Medicine, Universitat de Girona, 17003 Girona, Spain"},{"name":"Departament de Pediatria, Facultat de Medicina i Ci\u00e8ncies M\u00e8diques, Universitat de Barcelona, 08007 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,1,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/j.gene.2015.08.062","article-title":"The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and 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