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Date Published: 17/02/2023
Abstract Views: 236
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DOI: https://doi.org/10.51298/vmj.v520i2.4165
Issue
Vol. 520 No. 2 (2022)
Section
Các bài báo
How to Cite
Lương, T. H., Phạm , L. A. T., & Trần, V. K. (2023). IDENTIFICATION OF MUTATION IN THE KCND3 AND HCN4 GENES CONTROLLING K+ CHANNELS IN PATIENTS WITH BRUGADA SYNDROME. Vietnam Medical Journal, 520(2). https://doi.org/10.51298/vmj.v520i2.4165

IDENTIFICATION OF MUTATION IN THE KCND3 AND HCN4 GENES CONTROLLING K+ CHANNELS IN PATIENTS WITH BRUGADA SYNDROME

Tú Huy Lương1, Lê Anh Tuấn Phạm 2, Vân Khánh Trần1,
1 Hanoi medical university
2 Hanoi Medical university

Main Article Content

Abstract

First described in 1992, Brugada syndrome (BrS) has a high prevalence in Asia, especially in Southeast Asia (5–14/1,000), including Vietnam. It is responsible for 4 to 12% of sudden cardiac death in men under 40 years of age. Caused primarily by mutations in genes encoding voltage-channel proteins, more than 300 pathogenic variants in 19 different genes have been reported to date. In which, KCND3 and HCN4 genes play a very important role in disease expression through controlling the K+ channel, which is the direct cause of cardiac repolarization. The objective was to identify genetic mutations on 2 genes KCND3 and HCN4. Subjects and methods: 30 patients diagnosed with Brugada syndrome at the Vietnam Heart Institute were sequenced by Sanger method. Results: the study identified 3/30 patients with mutations, the KCND3 gene accounted for 6.7% (2/30), the HCN4 gene accounted for 3.3% (1/30), 100% of the mutations were replacements nucleotides and has never been published before.

Article Details

Keywords

BrS, HCN4, KCND3

References

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