Brugada Syndrome and SCN5A-Encoded Cardiac Sodium Channel Mutations in Singapore

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Introduction: This study aims to characterize patients with Brugada syndrome (BrS) in Singapore, and its association with SCN5A-encoded cardiac sodium channel mutations. Methods: The study population consisted of 30 unrelated individuals (28 males, 93%) with either spontaneous or drug induced type 1 coved ST-segment elevation in leads V1–V3. Results: The mean age of symptom onset was 40.8 years (SD 13.5, min 11, max 72). The mean follow up duration was 3.6 years. Nine patients had an ICD implanted, none had appropriate ICD shocks. Mutation in the SCN5A gene was found in 5 out of the 30 individuals (16.7%). The PR interval in SCN5A mutation carriers was significantly prolonged (201.40 +/− 28.35 ms vs 168.92 +/− 27.67 ms, p=0.024). One individual had compound heterozygous mutation and presented with syncope and VT at the age of 11. A total of 6 mutations were identified, four of which were novel (67%). Conclusion: In this study, a mutation in the SCN5A gene was found in 16.7% of patients with BrS. The presence of a SCN5A mutation results in a longer PR interval. Compound heterozygosity in one individual appears to confer a more severe phenotype and an earlier onset of symptoms.