ArticleIndian pacing and electrophysiology journal
Genotype and clinical characteristics of congenital long QT syndrome in Thailand.
Article in Indian pacing and electrophysiology journal. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 9 citations in OpenAlex.
- Mutation-specific roles of sustained sodium current (IPNAS nexus · 2025Article
- Spectrum of genetic variants detected in children tested for long QT syndrome.BMC cardiovascular disorders · 2025Article
- Clinical and genetic characteristics and course of congenital long QT syndrome in children: A nine-year single-center experience.Anatolian journal of cardiology · 2021Article
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Authors and funding
8 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital 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.
methodsClinical 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.
resultsOf 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.
conclusionsOur patients with LQTS were mostly symptomatic at presentation. The genetic mutations were predominantly in LQT1, LQT2, and LQT3 genes.
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