AUTHOR=Tse Gary , Lee Sharen , Liu Tong , Yuen Ho Chuen , Wong Ian Chi Kei , Mak Chloe , Mok Ngai Shing , Wong Wing Tak 

TITLE=Identification of Novel SCN5A Single Nucleotide Variants in Brugada Syndrome: A Territory-Wide Study From Hong Kong

JOURNAL=Frontiers in Physiology

VOLUME=11

YEAR=2020

URL=https://www.frontiersin.org/journals/physiology/articles/10.3389/fphys.2020.574590

DOI=10.3389/fphys.2020.574590

ISSN=1664-042X

ABSTRACT=<sec><title>Background</title><p>The aim of this study is to report on the genetic composition of Brugada syndrome (BrS) patients undergoing genetic testing in Hong Kong.</p></sec><sec><title>Methods</title><p>Patients with suspected BrS who presented to the Hospital Authority of Hong Kong between 1997 and 2019, and underwent genetic testing, were analyzed retrospectively.</p></sec><sec><title>Results</title><p>A total of 65 subjects were included (<italic>n</italic> = 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 &gt; A, c.2024-11T &gt; A, c.2042A &gt; C, c.4279G &gt; T, c.5689C &gt; 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]; <italic>P</italic> = 0.059), prior VT/VF (HR: 21.34 [5.74–79.31; <italic>P</italic> &lt; 0.0001) and T-wave axis (HR: 0.970 [0.944–0.998]; <italic>P</italic> = 0.036) achieved <italic>P</italic> &lt; 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], <italic>P</italic> = 0.001).</p></sec><sec><title>Conclusion</title><p>This study identified novel mutations in SCN5A in a Chinese cohort of BrS patients.</p></sec>