{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T08:20:22Z","timestamp":1782202822627,"version":"3.54.5"},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2020,12,25]],"date-time":"2020-12-25T00:00:00Z","timestamp":1608854400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100000050","name":"National Heart, Lung and Blood Institute","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["K23HL130554"],"award-info":[{"award-number":["K23HL130554"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"American Heart Association Mentored Clinical and Population Research Award","award":["17MCPRP33660457"],"award-info":[{"award-number":["17MCPRP33660457"]}]},{"name":"American Heart Association Strategic Focused Research Network"},{"name":"Netherlands CardioVascular Research Initiative"},{"DOI":"10.13039\/501100002996","name":"Dutch Heart Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002996","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100012524","name":"Dutch Federation of University Medical Centres","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012524","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001826","name":"Netherlands Organisation for Health Research and Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001722","name":"Royal Netherlands Academy of Sciences","doi-asserted-by":"crossref","award":["PREDICT-2"],"award-info":[{"award-number":["PREDICT-2"]}],"id":[{"id":"10.13039\/501100001722","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004362","name":"Swiss Heart Foundation","doi-asserted-by":"publisher","award":["29283"],"award-info":[{"award-number":["29283"]}],"id":[{"id":"10.13039\/501100004362","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,5,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Aims\u2003<\/jats:title>\n                  <jats:p>Sudden death and aborted sudden death have been observed in patients with biallelic variants in TECRL. However, phenotypes have only begun to be described and no data are available on medical therapy after long-term follow-up.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods and results\u2003<\/jats:title>\n                  <jats:p>An international, multi-centre retrospective review was conducted. We report new cases associated with TECRL variants and long-term follow-up from previously published cases. We present 10 cases and 37 asymptomatic heterozygous carriers. Median age at onset of cardiac symptoms was 8\u2009years (range 1\u201322\u2009years) and cases were followed for an average of 10.3\u2009years (standard deviation 8.3), right censored by death in three cases. All patients on metoprolol, bisoprolol, or atenolol were transitioned to nadolol or propranolol due to failure of therapy. Phenotypes typical of both long QT syndrome and catecholaminergic polymorphic ventricular tachycardia (CPVT) were observed. We also observed divergent phenotypes in some cases despite identical homozygous variants. None of 37 heterozygous family members had a cardiac phenotype.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion\u2003<\/jats:title>\n                  <jats:p>Patients with biallelic pathogenic TECRL variants present with variable cardiac arrhythmia phenotypes, including those typical of long QT syndrome and CPVT. Nadolol and propranolol may be superior beta-blockers in this setting. No cardiac disease or sudden death was present in patients with a heterozygous genotype.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/europace\/euaa376","type":"journal-article","created":{"date-parts":[[2020,11,24]],"date-time":"2020-11-24T04:22:33Z","timestamp":1606191753000},"page":"781-788","source":"Crossref","is-referenced-by-count":29,"title":["Life-threatening arrhythmias with autosomal recessive <i>TECRL<\/i> variants"],"prefix":"10.1093","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9107-8342","authenticated-orcid":false,"given":"Gregory","family":"Webster","sequence":"first","affiliation":[{"name":"Division of Cardiology, Ann and Robert H. Lurie Children\u2019s Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5200-9048","authenticated-orcid":false,"given":"Elhadi H","family":"Aburawi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, College of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7748-2779","authenticated-orcid":false,"given":"Marie A","family":"Chaix","sequence":"additional","affiliation":[{"name":"Adult Congenital Centre, Department of Medicine, Montreal Heart institute, Universit\u00e9 de Montr\u00e9al, Montreal, Qu\u00e9bec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3175-6241","authenticated-orcid":false,"given":"Stephanie","family":"Chandler","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Ann and Robert H. Lurie Children\u2019s Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8079-4618","authenticated-orcid":false,"given":"Roger","family":"Foo","sequence":"additional","affiliation":[{"name":"Department of Cardiology, National University Hospital, Singapore 119074"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6997-379X","authenticated-orcid":false,"given":"A K M Monwarul","family":"Islam","sequence":"additional","affiliation":[{"name":"Department of Noninvasive Cardiology, National Institute of Cardiovascular Diseases, Dhaka, Bangladesh"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janneke A E","family":"Kammeraad","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, Erasmus Medical Center\u2014Sophia Children\u2019s Hospital, Rotterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7560-8326","authenticated-orcid":false,"given":"John D","family":"Rioux","sequence":"additional","affiliation":[{"name":"Department of Medicine, Universit\u00e9 de Montr\u00e9al, Montreal, Qu\u00e9bec, Canada"},{"name":"Research Center, Department of Medicine, Montreal Heart Institute, Montreal, Qu\u00e9bec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2029-2218","authenticated-orcid":false,"given":"Lihadh","family":"Al-Gazali","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, College of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Md Zahidus","family":"Sayeed","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Rajshahi Medical College, Rajshahi, Bangladesh"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tingting","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Children\u2019s Hospital, Shanghai Jiaotong University, No. 355 Luding Road, Shanghai 200062, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Han","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Children\u2019s Hospital, Shanghai Jiaotong University, No. 355 Luding Road, Shanghai 200062, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lijian","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Children\u2019s Hospital, Shanghai Jiaotong University, No. 355 Luding Road, Shanghai 200062, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cuilan","family":"Hou","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Children\u2019s Hospital, Shanghai Jiaotong University, No. 355 Luding Road, Shanghai 200062, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Ing","sequence":"additional","affiliation":[{"name":"Department of Pathology, Ann & Robert H. 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