To determine SCN5A gene mutations in Brugada syndrome patients and to investigate the pathogenicity of these mutations. Subjects and research methods: case series study was carried on Brugada syndrome patients at hospitals in Ho Chi Minh City and Hanoi. The disease was diagnosed according to the European Heart Rhythm Society 2015 criteria. Mutations were identified by Sanger sequencing. Using protein function prediction softwares to investigate the pathogenicity of the mutations. Results: There were 50 patients participating in the study. 14 mutations were detected in the SCN5A gene of 14 patients. These were 10 different types of mutations, of which 4 are novel mutationsthat have not been published in genetic databases. When predicting pathogenicity using bioinformatic softwares, 80% are pathogenic and likely pathogenic. The pathological phenotypes of 12 patients carrying pathogenic or likely pathogenic mutations were described concurrently. Conclusion: The study investigated and determined the pathogenicity for 10 types of SCN5A gene mutations detected in Brugada syndrome patients, using the bioinformatic softwares. Although this isan appropriate approach at this time, it is necessary to have more statistically significant associations between mutations and patients phenotypes to confirm the pathogenicity.
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