{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T16:23:18Z","timestamp":1790526198895,"version":"4.1.0"},"reference-count":57,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2019,7,16]],"date-time":"2019-07-16T00:00:00Z","timestamp":1563235200000},"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":["ID 100010434"],"award-info":[{"award-number":["ID 100010434"]}],"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 PI14\/01773 and PI17\/01690"],"award-info":[{"award-number":["FIS PI14\/01773 and 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>Short QT syndrome, one of the most lethal entities associated with sudden cardiac death, is a rare genetic disease characterized by short QT intervals detected by electrocardiogram. Several genetic variants are causally linked to the disease, but there has yet to be a comprehensive analysis of variants among patients with short QT syndrome. To fill this gap, we performed an exhaustive study of variants currently catalogued as deleterious in short QT syndrome according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Analysis of the 32 variants described in the literature determined that only nine (28.12%) have a conclusive pathogenic role. All definitively pathogenic variants are located in KCNQ1, KCNH2, or KCNJ2; three genes encoding potassium channels. Other variants located in genes encoding calcium or sodium channels are associated with electrical alterations concomitant with shortened QT intervals but do not guarantee a diagnosis of short QT syndrome. We recommend caution regarding previously reported variants classified as pathogenic. An exhaustive re-analysis is necessary to clarify the role of each variant before routinely translating genetic findings to the clinical setting.<\/jats:p>","DOI":"10.3390\/jcm8071035","type":"journal-article","created":{"date-parts":[[2019,7,17]],"date-time":"2019-07-17T02:44:03Z","timestamp":1563331443000},"page":"1035","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":49,"title":["Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants"],"prefix":"10.3390","volume":"8","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 Investigaci\u00f3n Biom\u00e9dica en Red Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain"},{"name":"Medical Science Department, School of Medicine, University of Girona, 17071 Girona, Spain"},{"name":"Biochemistry and Molecular Genetics Department, Hospital Clinic, IDIBAPS, 08036 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Fernandez-Falgueras","sequence":"additional","affiliation":[{"name":"Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190 Girona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4661-8485","authenticated-orcid":false,"given":"Ximena","family":"Lemus","sequence":"additional","affiliation":[{"name":"Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190 Girona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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, 17071 Girona, Spain"},{"name":"Arrhythmias Unit, Hospital Sant Joan de D\u00e9u, University of Barcelona, 08950 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Coll","sequence":"additional","affiliation":[{"name":"Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190 Girona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jesus","family":"Mates","sequence":"additional","affiliation":[{"name":"Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190 Girona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Arbelo","sequence":"additional","affiliation":[{"name":"Centro Investigaci\u00f3n Biom\u00e9dica en Red Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain"},{"name":"Arrhythmias Unit, Hospital Clinic, University of Barcelona, 08036 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paloma","family":"Jord\u00e0","sequence":"additional","affiliation":[{"name":"Centro Investigaci\u00f3n Biom\u00e9dica en Red Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain"},{"name":"Arrhythmias Unit, Hospital Clinic, University of Barcelona, 08036 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Perez-Serra","sequence":"additional","affiliation":[{"name":"Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190 Girona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernat","family":"del Olmo","sequence":"additional","affiliation":[{"name":"Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190 Girona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carles","family":"Ferrer-Costa","sequence":"additional","affiliation":[{"name":"Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190 Girona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Iglesias","sequence":"additional","affiliation":[{"name":"Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190 Girona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Fiol","sequence":"additional","affiliation":[{"name":"Arrhythmias Unit, Hospital Sant Joan de D\u00e9u, University of Barcelona, 08950 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Puigmul\u00e9","sequence":"additional","affiliation":[{"name":"Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190 Girona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Lopez","sequence":"additional","affiliation":[{"name":"Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190 Girona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferran","family":"Pico","sequence":"additional","affiliation":[{"name":"Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190 Girona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josep","family":"Brugada","sequence":"additional","affiliation":[{"name":"Centro 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, 08036 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6607-3032","authenticated-orcid":false,"given":"Ramon","family":"Brugada","sequence":"additional","affiliation":[{"name":"Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190 Girona, Spain"},{"name":"Centro Investigaci\u00f3n Biom\u00e9dica en Red Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain"},{"name":"Medical Science Department, School of Medicine, University of Girona, 17071 Girona, Spain"},{"name":"Cardiology Service, Hospital Josep Trueta, University of Girona, 17007 Girona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2019,7,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1159\/000047299","article-title":"Idiopathic Short 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