Abstract
BackgroundThe aim of this study is to report on the genetic composition of Brugada syndrome (BrS) patients undergoing genetic testing in Hong Kong.MethodsPatients with suspected BrS who presented to the Hospital Authority of Hong Kong between 1997 and 2019, and underwent genetic testing, were analyzed retrospectively.ResultsA 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).ConclusionThis study identified novel mutations in SCN5A in a Chinese cohort of BrS patients.
Highlights
Brugada syndrome (BrS) is an ion channelopathy with significant genetic heterogeneity
The aim of this study is to report on the genetic composition of Brugada syndrome (BrS) patients undergoing genetic testing in Hong Kong
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
Summary
Brugada syndrome (BrS) is an ion channelopathy with significant genetic heterogeneity. Mutations in other genes encoding for K+, Ca2+ and hyperpolarization-activated cyclic nucleotide-gated (HCN) channels have been described. This condition was believed to be a Mendelian disease with an autosomal dominant inheritance pattern and incomplete penetrance (Sicouri et al, 2012). Mutations in other genes may be responsible for BrS (Marian, 2009; Roden, 2010). Another possibility is incomplete penetrance despite the presence of the mutated gene or variable expressivity (Giudicessi and Ackerman, 2013). The aim of this study is to report on the genetic composition of Brugada syndrome (BrS) patients undergoing genetic testing in Hong Kong
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