A multicentre study of Malaysian adults with Brugada syndrome has identified six variants in the SCN5A gene, according to EMJ. The research, described by its authors as the first Malaysian genetic investigation of the condition in adults, also documented wide differences in how patients presented clinically.
The work was published in the International Journal of Cardiology in 2026 by Seman and colleagues. It set out to map genetic variation linked to Brugada syndrome and to describe the clinical features of affected adults in a country where such genetic data had previously been scarce.
Why it matters
Brugada syndrome is an inherited heart condition tied to ventricular arrhythmias and sudden cardiac death. It is known to be more common across Southeast Asia than in many other parts of the world, yet Malaysia has lacked genetic information on affected adults until now. Filling that gap matters for two reasons: it gives clinicians a clearer picture of which gene changes circulate in the local population, and it opens a route toward family screening and more tailored risk assessment.
The authors framed their work as addressing a gap in genetic knowledge about Malaysian adults with the condition. EMJ reports that the findings support considering genetic testing as part of risk stratification and family screening strategies.
How the study was designed
Researchers ran a multicentre case–control study, recruiting patients from tertiary cardiology centres across the country. Diagnosis rested on electrocardiogram confirmation of Brugada patterns, covering Type 1, Type 2 and Type 3.
Controls were healthy people with normal ECG results and no family history of sudden cardiac death. The team extracted genomic DNA from peripheral blood and analysed it with a genetic testing panel that covers genes associated with cardiac arrhythmias.
In total, 40 patients took part. The authors presented the study as an initial assessment of genetic variation and clinical characteristics in this population.
What the genetic analysis found
Six SCN5A variants turned up among the patients. These spanned the full range of classification categories: pathogenic, likely pathogenic, uncertain significance and benign.
One variant stood out for its frequency. The p.Arg965Cys change was detected in 12.5% of cases, a notable presence within a cohort of this size.
The spread of classifications is itself informative. It shows that not every variant found in a Brugada patient carries a clear-cut disease link, and that interpreting results requires careful clinical context rather than a simple positive-or-negative reading.
Symptoms varied widely between patients
Clinical presentation was far from uniform. Palpitations were the most commonly reported symptom, affecting 47.5% of patients.
Chest pain came next at 37.5%, followed by presyncope at 35.0%, syncope at 32.5% and dizziness at 30.0%. The authors described this as considerable clinical heterogeneity alongside the range of genetic variants they identified.
For clinicians, that variability reinforces a familiar point about inherited arrhythmia syndromes: the same diagnosis can look very different from one patient to the next, and symptom burden alone is not a reliable guide to underlying genetic status.
An important limit on the findings
The abstract did not establish whether any individual variant independently predicted ventricular arrhythmias or sudden cardiac death. That distinction matters, because the practical value of a genetic result in the clinic depends on whether it sharpens a prognosis, not only on whether it confirms a diagnosis.
The authors therefore positioned genetic testing as a source of additional information to support clinical assessment and familial screening, rather than as a stand-alone predictive tool. The study's size — 40 patients — also means the variant frequencies reported should be read as an initial snapshot rather than a population-level estimate.
What to watch
The findings point toward wider use of genetic testing in Malaysian cardiology and the longer-term development of precision cardiology approaches there. The next step to watch is whether larger follow-up studies can link specific SCN5A variants to arrhythmic outcomes, which would give family screening and risk stratification a firmer evidence base.
