{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T16:00:32Z","timestamp":1740153632269,"version":"3.37.3"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,3,15]],"date-time":"2016-03-15T00:00:00Z","timestamp":1458000000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2016,3,15]],"date-time":"2016-03-15T00:00:00Z","timestamp":1458000000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,2,23]],"date-time":"2016-02-23T00:00:00Z","timestamp":1456185600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001030","name":"National Heart Foundation of Australia","doi-asserted-by":"publisher","award":["1036756"],"award-info":[{"award-number":["1036756"]}],"id":[{"id":"10.13039\/501100001030","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Health and Medical Research Council (NHMRC)","award":["1059156"],"award-info":[{"award-number":["1059156"]}]},{"DOI":"10.13039\/501100001030","name":"National Heart Foundation of Australia","doi-asserted-by":"publisher","award":["1036756","100294"],"award-info":[{"award-number":["1036756","100294"]}],"id":[{"id":"10.13039\/501100001030","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","journalofarrhythmia.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Arrhythmia"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Familial long QT syndrome (LQTS) is a primary arrhythmogenic disorder caused by mutations in ion channel genes. The phenotype ranges from asymptomatic individuals to sudden cardiac arrest and death. LQTS is a rare but significant health problem for which global data should exist. This study sought to provide the first clinical and genetic description of Australian families with LQTS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed a cross\u2010sectional study to evaluate clinical and genetic features of families with LQTS. We recruited individuals from the Australian Genetic Heart Disease Registry and Genetic Heart Disease Clinic, in Sydney, Australia, and included those with a diagnosis of LQTS according to the most recent consensus statement.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among 108 families with LQTS, 173 individuals were affected. Twenty\u2010five (32%) probands had a sudden cardiac death (SCD) event (including appropriate implantable cardioverter defibrillator [ICD] therapy, or resuscitated cardiac arrest). There were 64 (82%) probands who underwent genetic testing, and 34 (53%) had a pathogenic or likely pathogenic mutation in. Having a family history of LQTS was significantly associated with identification of a pathogenic result (79% versus 14%, <jats:italic>p<\/jats:italic>&lt;0.0001). There were 16 (9%) participants who experienced delay to diagnosis of at least 12 months.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This is the first clinical and genetic study in a large cohort of Australian families with LQTS. Findings from this study suggest that the clinical and genetic features in this population are not dissimilar to those described in North American, European, and Asian cohorts. Global\u2010scale information about families with LQTS is an important initiative to ensure diagnostic and management approaches are applicable to different populations and ethnicities.<\/jats:p><\/jats:sec>","DOI":"10.1016\/j.joa.2016.02.001","type":"journal-article","created":{"date-parts":[[2016,3,15]],"date-time":"2016-03-15T22:02:47Z","timestamp":1458079367000},"page":"456-461","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"title":["Clinical and genetic features of Australian families with long QT syndrome: A registry\u2010based study"],"prefix":"10.1002","volume":"32","author":[{"given":"Charlotte","family":"Burns","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jodie","family":"Ingles","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew M.","family":"Davis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanessa","family":"Connell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Belinda","family":"Gray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren","family":"Hunt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie","family":"McGaughran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"Semsarian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,3,15]]},"reference":[{"key":"e_1_2_9_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2009.02.044"},{"key":"e_1_2_9_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2013.05.014"},{"key":"e_1_2_9_4_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.289.16.2041"},{"key":"e_1_2_9_5_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.105.592899"},{"key":"e_1_2_9_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrcardio.2013.108"},{"key":"e_1_2_9_7_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.103.1.89"},{"key":"e_1_2_9_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2011.05.020"},{"key":"e_1_2_9_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.hlc.2011.07.013"},{"key":"e_1_2_9_10_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa022147"},{"key":"e_1_2_9_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2010.07.038"},{"key":"e_1_2_9_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/chd.12104"},{"key":"e_1_2_9_13_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.109.863209"},{"key":"e_1_2_9_14_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.113.003985"},{"key":"e_1_2_9_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2013.08.036"},{"key":"e_1_2_9_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2009.05.021"},{"key":"e_1_2_9_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.44"},{"key":"e_1_2_9_19_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.112.000091"},{"key":"e_1_2_9_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2011.07.017"},{"key":"e_1_2_9_21_2","doi-asserted-by":"publisher","DOI":"10.1136\/heartjnl-2011-300368"},{"key":"e_1_2_9_22_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.106.661082"},{"key":"e_1_2_9_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2014.08.020"},{"key":"e_1_2_9_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.annemergmed.2009.01.031"},{"key":"e_1_2_9_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2013.10.010"},{"key":"e_1_2_9_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2009.08.028"}],"container-title":["Journal of Arrhythmia"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/api.elsevier.com\/content\/article\/PII:S188042761600034X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/api.elsevier.com\/content\/article\/PII:S188042761600034X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1016\/j.joa.2016.02.001","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T23:25:06Z","timestamp":1696029906000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1016\/j.joa.2016.02.001"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3,15]]},"references-count":25,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2016,12]]}},"alternative-id":["10.1016\/j.joa.2016.02.001"],"URL":"https:\/\/doi.org\/10.1016\/j.joa.2016.02.001","archive":["Portico"],"relation":{},"ISSN":["1880-4276","1883-2148"],"issn-type":[{"type":"print","value":"1880-4276"},{"type":"electronic","value":"1883-2148"}],"subject":[],"published":{"date-parts":[[2016,3,15]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical and genetic features of Australian families with long QT syndrome: A registry-based study","name":"articletitle","label":"Article Title"},{"value":"Journal of Arrhythmia","name":"journaltitle","label":"Journal Title"},{"value":"http:\/\/dx.doi.org\/10.1016\/j.joa.2016.02.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 The Authors. Published by Elsevier B.V. on behalf of Japanese Heart Rhythm Society.","name":"copyright","label":"Copyright"}]}}