{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T00:00:09Z","timestamp":1776816009518,"version":"3.51.2"},"reference-count":41,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2020,9,18]],"date-time":"2020-09-18T00:00:00Z","timestamp":1600387200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Physiol."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>The aim of this study is to report on the genetic composition of Brugada syndrome (BrS) patients undergoing genetic testing in Hong Kong.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Patients with suspected BrS who presented to the Hospital Authority of Hong Kong between 1997 and 2019, and underwent genetic testing, were analyzed retrospectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 65 subjects were included (<jats:italic>n<\/jats:italic> = 65, 88% male, median presenting age 42 [30\u201354] years old, 58% type 1 pattern). Twenty-two subjects (34%) showed abnormal genetic test results, identifying the following six novel, pathogenic or likely pathogenic mutations in SCN5A: c.674G &amp;gt; A, c.2024-11T &amp;gt; A, c.2042A &amp;gt; C, c.4279G &amp;gt; T, c.5689C &amp;gt; T, c.429del. Twenty subjects (31%) in the cohort suffered from spontaneous ventricular tachycardia\/ventricular fibrillation (VT\/VF) and 18 (28%) had incident VT\/VF over a median follow-up of 83 [Q1\u2013Q3: 52\u2013112] months. Univariate Cox regression demonstrated that syncope (hazard ratio [HR]: 4.27 [0.95\u201319.30]; <jats:italic>P<\/jats:italic> = 0.059), prior VT\/VF (HR: 21.34 [5.74\u201379.31; <jats:italic>P<\/jats:italic> &amp;lt; 0.0001) and T-wave axis (HR: 0.970 [0.944\u20130.998]; <jats:italic>P<\/jats:italic> = 0.036) achieved <jats:italic>P<\/jats:italic> &amp;lt; 0.10 for predicting incident VT\/VF. After multivariate adjustment, only prior VT\/VF remained a significant predictor (HR: 12.39 [2.97\u201351.67], <jats:italic>P<\/jats:italic> = 0.001).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study identified novel mutations in SCN5A in a Chinese cohort of BrS patients.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fphys.2020.574590","type":"journal-article","created":{"date-parts":[[2020,9,18]],"date-time":"2020-09-18T14:08:10Z","timestamp":1600438090000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":9,"title":["RETRACTED: Identification of Novel SCN5A Single Nucleotide Variants in Brugada Syndrome: A Territory-Wide Study From Hong Kong"],"prefix":"10.3389","volume":"11","author":[{"given":"Gary","family":"Tse","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharen","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tong","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ho Chuen","family":"Yuen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian Chi Kei","family":"Wong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chloe","family":"Mak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ngai Shing","family":"Mok","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wing Tak","family":"Wong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2020,9,18]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1016\/j.hrthm.2005.01.005","article-title":"Brugada syndrome: report of the second consensus conference.","volume":"2","author":"Antzelevitch","year":"2005","journal-title":"Heart Rhythm"},{"key":"B2","doi-asserted-by":"publisher","first-page":"442","DOI":"10.1161\/circulationaha.106.668392","article-title":"Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.","volume":"115","author":"Antzelevitch","year":"2007","journal-title":"Circulation"},{"key":"B3","first-page":"665","article-title":"J-Wave syndromes expert consensus conference report: emerging concepts and gaps in knowledge.","volume":"19","author":"Antzelevitch","year":"2016","journal-title":"EP Europace"},{"key":"B4","doi-asserted-by":"publisher","first-page":"872","DOI":"10.1093\/europace\/eur393","article-title":"QRS-T angle as a predictor of sudden cardiac death in a middle-aged general population.","volume":"14","author":"Aro","year":"2012","journal-title":"Europace"},{"key":"B5","doi-asserted-by":"publisher","first-page":"2879","DOI":"10.1093\/eurheartj\/ehy412","article-title":"SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups.","volume":"39","author":"Baruteau","year":"2018","journal-title":"Eur. 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