Tse, G;
Lee, S;
Liu, T;
Yuen, HC;
Wong, ICK;
Mak, C;
Mok, NS;
(2020)
Identification of Novel SCN5A Single Nucleotide Variants in Brugada Syndrome: A Territory-Wide Study From Hong Kong.
Frontiers In Physiology
, 11
, Article 574590. 10.3389/fphys.2020.574590.
Preview |
Text
fphys-11-574590.pdf - Published Version Download (364kB) | Preview |
Abstract
Background: The aim of this study is to report on the genetic composition of Brugada syndrome (BrS) patients undergoing genetic testing in Hong Kong. Methods: Patients with suspected BrS who presented to the Hospital Authority of Hong Kong between 1997 and 2019, and underwent genetic testing, were analyzed retrospectively. Results: A total of 65 subjects were included (n = 65, 88% male, median presenting age 42 [30–54] 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 > A, c.2024-11T > A, c.2042A > C, c.4279G > T, c.5689C > 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–Q3: 52–112] months. Univariate Cox regression demonstrated that syncope (hazard ratio [HR]: 4.27 [0.95–19.30]; P = 0.059), prior VT/VF (HR: 21.34 [5.74–79.31; P < 0.0001) and T-wave axis (HR: 0.970 [0.944– 0.998]; P = 0.036) achieved P < 0.10 for predicting incident VT/VF. After multivariate adjustment, only prior VT/VF remained a significant predictor (HR: 12.39 [2.97–51.67], P = 0.001). Conclusion: This study identified novel mutations in SCN5A in a Chinese cohort of BrS patients
| Type: | Article |
|---|---|
| Title: | Identification of Novel SCN5A Single Nucleotide Variants in Brugada Syndrome: A Territory-Wide Study From Hong Kong |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.3389/fphys.2020.574590 |
| Publisher version: | https://doi.org/10.3389/fphys.2020.574590 |
| Language: | English |
| Additional information: | This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. http://creativecommons.org/licenses/by/4.0/ |
| Keywords: | Brugada syndrome, SCN5A, ventricular arrhythmias, risk stratification, Sudden cardiac death |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > UCL School of Pharmacy UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > UCL School of Pharmacy > Practice and Policy |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10113040 |
Archive Staff Only
 |
View Item |
