Publications by authors named "Alicia Poh Leng Chong"
Article Synopsis
- Brugada syndrome (BrS) is a rare hereditary heart condition often linked to mutations in the SCN5A gene, which plays a critical role in sodium ion channel function; it is responsible for 15-30% of cases.
- A young male proband experienced syncopal episodes and was found to carry two mutations in the SCN5A gene inherited from his parents, leading to significant abnormalities during stress testing and a high risk for dangerous heart rhythms.
- This study highlights the unique presentation of compound heterozygote mutations in a Singaporean Chinese family, suggesting variations in how BrS manifests in different populations.
