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Title: Genotype and clinical characteristics of congenital long QT syndrome in Thailand
Authors: Ankavipar Saprungruang
Apichai Khongphatthanayothin
John Mauleekoonphairoj
Pharawee Wandee
Supaluck Kanjanauthai
Zahurul A. Bhuiyan
Arthur A.M. Wilde
Yong Poovorawan
Chulalongkorn University
Centre Hospitalier Universitaire Vaudois
Bangkok Hospital Medical Center
Faculty of Medicine, Siriraj Hospital, Mahidol University
Amsterdam UMC - University of Amsterdam
Keywords: Medicine
Issue Date: 1-Sep-2018
Citation: Indian Pacing and Electrophysiology Journal. Vol.18, No.5 (2018), 165-171
Abstract: © 2018 Indian Heart Rhythm Society Background: Congenital long QT syndrome (LQTS) is an inheritable arrhythmic disorder which is linked to at least 17 genes. The clinical characteristics and genetic mutations may be variable among different population groups and they have not yet been studied in Thai population. Methods: Clinical characteristics were retrospectively reviewed from children and young adults with congenital long QT syndrome whose blood samples were sent for genotyping during 1998–2017. Sangers sequencing was used to sequentially identify KCNQ1 or KCNH2 genetic variants. Whole exome sequencing (WES) was used to identify variants in all other known LQTS genes. Results: Of the 20 subjects (17 families), 45% were male, mean QTc was 550.3 ± 68.8 msec (range 470–731 msec) and total Schwartz's score was 5.6 ± 1.2 points (range 3–8 points). Fifty percent of patients had events at rest, 30% had symptoms after adrenergic mediated events, and 20% were asymptomatic. We discovered pathogenic and likely pathogenic genetic variants in KCNQ1, KCNH2, and SCN5A in 6 (35%), 4 (24%), and 2 (12%) families, respectively. One additional patient had variance of unknown significance (VUS) in KCNH2 and another one in ANK2. No pathogenic genetic variant was found in 3 patients (18%). Most patients received beta-blocker and 9 (45%) had ICD implanted. LQT1 patients were either asymptomatic or had stress-induced arrhythmia. Most of the LQT2 and LQT3 patients developed symptoms at rest or during sleep. Conclusions: Our patients with LQTS were mostly symptomatic at presentation. The genetic mutations were predominantly in LQT1, LQT2, and LQT3 genes.
ISSN: 09726292
Appears in Collections:Scopus 2018

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