{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T03:18:36Z","timestamp":1764645516766,"version":"build-2065373602"},"reference-count":44,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2020,6,15]],"date-time":"2020-06-15T00:00:00Z","timestamp":1592179200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010434","name":"\u201cla Caixa\u201d Foundation","doi-asserted-by":"publisher","award":["LCF\/PR\/GN16\/50290001","LCF\/PR\/GN19\/50320002"],"award-info":[{"award-number":["LCF\/PR\/GN16\/50290001","LCF\/PR\/GN19\/50320002"]}],"id":[{"id":"10.13039\/100010434","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["FIS PI17\/01690"],"award-info":[{"award-number":["FIS PI17\/01690"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010336","name":"Fundaci\u00f3 Privada Daniel Bravo Andreu","doi-asserted-by":"publisher","award":["FDBA2015"],"award-info":[{"award-number":["FDBA2015"]}],"id":[{"id":"10.13039\/501100010336","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Inherited arrhythmogenic syndromes are the primary cause of unexpected lethal cardiac episodes in young people. It is possible that the first sign of the condition may be sudden death. Inherited arrhythmogenic syndromes are caused by genetic defects that may be analyzed using different technical approaches. A genetic alteration may be used as a marker of risk for families who carry the genetic alterations. Therefore, the early identification of the responsible genetic defect may help the adoption of preventive therapeutic measures focused on reducing the risk of lethal arrhythmias. Here, we describe the use of massive sequencing technologies and the interpretation of genetic analyses in inherited arrhythmogenic syndromes.<\/jats:p>","DOI":"10.3390\/jcm9061866","type":"journal-article","created":{"date-parts":[[2020,6,16]],"date-time":"2020-06-16T00:50:49Z","timestamp":1592268649000},"page":"1866","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Genetic Variants as Sudden-Death Risk Markers in Inherited Arrhythmogenic Syndromes: Personalized Genetic Interpretation"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5298-5276","authenticated-orcid":false,"given":"Oscar","family":"Campuzano","sequence":"first","affiliation":[{"name":"Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190 Girona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red. Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain"},{"name":"Medical Science Department, School of Medicine, University of Girona, 17003 Girona, 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":"Medical Science Department, School of Medicine, University of Girona, 17003 Girona, Spain"},{"name":"Arrhythmias Unit, Hospital Sant Joan de D\u00e9u, University of Barcelona, 08950 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0424-6393","authenticated-orcid":false,"given":"Elena","family":"Arbelo","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-IDIBAPS, 08036 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":"Arrhythmias Unit, Hospital Sant Joan de D\u00e9u, University of Barcelona, 08950 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paloma","family":"Jord\u00e0","sequence":"additional","affiliation":[{"name":"Arrhythmias Unit, Hospital Clinic, University of Barcelona-IDIBAPS, 08036 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"P\u00e9rez-Serra","sequence":"additional","affiliation":[{"name":"Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190 Girona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red. Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3136-1776","authenticated-orcid":false,"given":"Roc\u00edo","family":"Toro","sequence":"additional","affiliation":[{"name":"Medicine Department, School of Medicine, 11003 Cadiz, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"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 Sant Joan de D\u00e9u, University of Barcelona, 08950 Barcelona, Spain"},{"name":"Arrhythmias Unit, Hospital Clinic, University of Barcelona-IDIBAPS, 08036 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ramon","family":"Brugada","sequence":"additional","affiliation":[{"name":"Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190 Girona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red. Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain"},{"name":"Medical Science Department, School of Medicine, University of Girona, 17003 Girona, Spain"},{"name":"Cardiology Service, Hospital Josep Trueta, University of Girona, 17007 Girona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,6,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2334","DOI":"10.1161\/01.CIR.98.21.2334","article-title":"Sudden cardiac death","volume":"98","author":"Zipes","year":"1998","journal-title":"Circulation"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2441","DOI":"10.1056\/NEJMoa1510687","article-title":"A Prospective Study of Sudden Cardiac Death among Children and Young Adults","volume":"374","author":"Bagnall","year":"2016","journal-title":"N. Engl. J. 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