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Genotype and clinical characteristics of congenital long QT syndrome in Thailand
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 cha...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6198685/ https://www.ncbi.nlm.nih.gov/pubmed/30036649 http://dx.doi.org/10.1016/j.ipej.2018.07.007 |
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author | Saprungruang, Ankavipar Khongphatthanayothin, Apichai Mauleekoonphairoj, John Wandee, Pharawee Kanjanauthai, Supaluck Bhuiyan, Zahurul A. Wilde, Arthur A.M. Poovorawan, Yong |
author_facet | Saprungruang, Ankavipar Khongphatthanayothin, Apichai Mauleekoonphairoj, John Wandee, Pharawee Kanjanauthai, Supaluck Bhuiyan, Zahurul A. Wilde, Arthur A.M. Poovorawan, Yong |
author_sort | Saprungruang, Ankavipar |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-6198685 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-61986852018-10-25 Genotype and clinical characteristics of congenital long QT syndrome in Thailand Saprungruang, Ankavipar Khongphatthanayothin, Apichai Mauleekoonphairoj, John Wandee, Pharawee Kanjanauthai, Supaluck Bhuiyan, Zahurul A. Wilde, Arthur A.M. Poovorawan, Yong Indian Pacing Electrophysiol J Original Article 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. Elsevier 2018-07-20 /pmc/articles/PMC6198685/ /pubmed/30036649 http://dx.doi.org/10.1016/j.ipej.2018.07.007 Text en © 2018 Indian Heart Rhythm Society. Production and hosting by Elsevier B.V. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Original Article Saprungruang, Ankavipar Khongphatthanayothin, Apichai Mauleekoonphairoj, John Wandee, Pharawee Kanjanauthai, Supaluck Bhuiyan, Zahurul A. Wilde, Arthur A.M. Poovorawan, Yong Genotype and clinical characteristics of congenital long QT syndrome in Thailand |
title | Genotype and clinical characteristics of congenital long QT syndrome in Thailand |
title_full | Genotype and clinical characteristics of congenital long QT syndrome in Thailand |
title_fullStr | Genotype and clinical characteristics of congenital long QT syndrome in Thailand |
title_full_unstemmed | Genotype and clinical characteristics of congenital long QT syndrome in Thailand |
title_short | Genotype and clinical characteristics of congenital long QT syndrome in Thailand |
title_sort | genotype and clinical characteristics of congenital long qt syndrome in thailand |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6198685/ https://www.ncbi.nlm.nih.gov/pubmed/30036649 http://dx.doi.org/10.1016/j.ipej.2018.07.007 |
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