{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T03:30:34Z","timestamp":1771558234518,"version":"3.50.1"},"reference-count":20,"publisher":"MDPI AG","issue":"19","license":[{"start":{"date-parts":[[2022,9,24]],"date-time":"2022-09-24T00:00:00Z","timestamp":1663977600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Georg und Bertha Schwyzer-Winiker Foundation"},{"name":"Baugarten Foundation"},{"name":"Wild Foundation"},{"name":"Swiss National Science Foundation (SNF)"},{"name":"Swiss Heart Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>The cardiac sodium channel (Nav1.5) controls cardiac excitability by triggering the action potential of cardiac myocytes and controlling electric impulse transmission. However, it has also been associated with arrhythmogenic cardiomyopathies. Accordingly, genetic variants in SCN5A that result in loss of function of Nav1.5 are associated with inherited arrhythmia syndromes, which are caused by reduced cardiac excitability, particularly Brugada syndrome (BrS) as well as arrhythmogenic right ventricular cardiomyopathy (ARVC). We report a novel pathogenic SCNA5 variant being associated with BrS overlapping with ARVC, as well as disease progression with a previously reported SCN5A variant being associated with a phenotype of BrS and conduction system disorder in two unrelated families.<\/jats:p>","DOI":"10.3390\/jcm11195625","type":"journal-article","created":{"date-parts":[[2022,9,26]],"date-time":"2022-09-26T01:41:58Z","timestamp":1664156518000},"page":"5625","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Brugada Syndrome Associated with Different Heterozygous SCN5A Variants in Two Unrelated Families"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2544-7354","authenticated-orcid":false,"given":"Nadine","family":"Molitor","sequence":"first","affiliation":[{"name":"Department of Cardiology, University Heart Center Zurich, 8091 Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5586-3418","authenticated-orcid":false,"given":"Argelia","family":"Medeiros-Domingo","sequence":"additional","affiliation":[{"name":"Swiss DNAlysis, 8600 Dubendorf, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siv","family":"Fokstuen","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University Heart Center Zurich, 8091 Zurich, Switzerland"},{"name":"Genetic Medicine Division, Diagnostic Department, H\u00f4pitaux Universitaires de Gen\u00e8ve, 1205 Geneva, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5972-0596","authenticated-orcid":false,"given":"Frank","family":"Ruschitzka","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University Heart Center Zurich, 8091 Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4748-0158","authenticated-orcid":false,"given":"Firat","family":"Duru","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University Heart Center Zurich, 8091 Zurich, Switzerland"},{"name":"Center for Integrative Human Physiology (ZIHP), University of Zurich, 8006 Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1896-0803","authenticated-orcid":false,"given":"Ardan","family":"Saguner","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University Heart Center Zurich, 8091 Zurich, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,9,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Zeppenfeld, K., Tfelt-Hansen, J., de Riva, M., Winkel, B.G., Behr, E.R., Blom, N.A., Charron, P., Corrado, D., Dagres, N., and de Chillou, C. 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Investig."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/11\/19\/5625\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:38:40Z","timestamp":1760143120000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/11\/19\/5625"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,24]]},"references-count":20,"journal-issue":{"issue":"19","published-online":{"date-parts":[[2022,10]]}},"alternative-id":["jcm11195625"],"URL":"https:\/\/doi.org\/10.3390\/jcm11195625","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,24]]}}}