BRUGADA syndrome genetic analysis has identified six variants in the SCN5A gene among Malaysian adults, highlighting the genetic diversity and heterogeneous clinical presentation of this inherited cardiac condition associated with ventricular arrhythmias and sudden cardiac death.
The findings provided insights into the genetic characteristics of Brugada syndrome in Malaysia, where genetic data have previously been limited despite the condition’s particular prevalence across Southeast Asia.
Brugada Syndrome Genetic Testing in Malaysian Adults
Researchers conducted a multicentre case–control study to characterise genetic variants associated with Brugada syndrome and describe clinical phenotypes among Malaysian adults.
Patients were recruited from tertiary cardiology centres nationwide, with diagnosis established using electrocardiogram (ECG)-confirmed Brugada patterns, including Type 1, Type 2, and Type 3.
Healthy individuals with normal ECG findings and no family history of sudden cardiac death were included as controls.
Genomic DNA was extracted from peripheral blood and analysed using a genetic testing panel covering genes associated with cardiac arrhythmias.
The study included 40 patients, providing an initial assessment of genetic variation and clinical characteristics within this Malaysian population.
SCN5A Variants and Diverse Clinical Presentations
Genetic analysis identified six variants in the SCN5A gene, encompassing pathogenic, likely pathogenic, uncertain significance, and benign classifications.
Notably, the p.Arg965Cys variant was detected in 12.5% of cases, highlighting its presence within the study population.
Clinical presentations varied considerably, with palpitations representing the most frequently reported symptom, affecting 47.5% of patients.
Chest pain was reported in 37.5%, followed by presyncope in 35.0%, syncope in 32.5%, and dizziness in 30.0%.
Seizure-like episodes were less common, occurring in 7.5% of patients.
These findings demonstrated considerable clinical heterogeneity among individuals with Brugada syndrome, alongside the identification of multiple genetic variants with differing clinical classifications.
Genetic Findings Support Precision Cardiology Strategies
The researchers described their investigation as the first Malaysian genetic study of Brugada syndrome, addressing a gap in genetic information concerning affected adults.
Identification of clinically relevant SCN5A variants suggested that genetic testing could contribute additional information to clinical assessment and familial screening.
However, the abstract did not establish whether individual variants independently predicted ventricular arrhythmias or sudden cardiac death.
Overall, the findings supported consideration of genetic testing within risk stratification and family screening strategies, while highlighting the potential for further development of precision cardiology approaches in Malaysia.
Reference
Seman NA et al. Genetic characterisation of Brugada Syndrome in Malaysia: Clinical and SCN5A variant insights. Int J Cardi. 2026.
