What is Brugada Syndrome?
“Brew” what?? This is the common expression encountered when explaining Brugada syndrome to patients and friends. It is pronounced ‘Bru-Gah-dah’.
It was only in 1992 that two European cardiologists — Pedro and Joseph Brugada — recognised this abnormal heart rhythm as a distinct clinical entity that can result in sudden cardiac death.
How Brugada Syndrome Is Inherited
Brugada syndrome is a genetic disorder where a mutation in a gene influences sodium and calcium currents in the heart. It is transmitted in an autosomal dominant fashion — meaning only one copy of the mutation is necessary to cause the disease. Each child of an affected individual has a 50% chance of inheriting the pathogenic variant.
The prevalence of Brugada syndrome in Southeast Asia is estimated at 1 in 2,000. Most patients have no symptoms until the first episode — which can manifest as syncope (fainting) or sudden death.
Why Brugada Is So Often Missed
Brugada syndrome is frequently missed or misdiagnosed because other cardiac tests — Holter monitors, echocardiograms, blood tests — are often normal. Prescriptions often carry a note of ‘Incomplete RBBB’ even when the trifecta of positive diagnostic criteria is present.
The condition can also masquerade as febrile seizures in children, as the affected ion channel in the heart works less well at above-normal temperatures, causing cardiac electrical instability.
The Role of Genetic Testing
Diagnostic genetic testing can be considered for patients who are asymptomatic but belong to a family with a known Brugada mutation. The coordination between the treating physician and the genetic laboratory is essential for accurate interpretation of variants.
A negative test result does not always eliminate the possibility of the disease — the lab screens for known pathogenic mutations on a prefabricated gene panel, and de novo mutations or deep intronic mutations may not be captured. This is why genetic counselling alongside testing is critical.
Key Takeaways
- Brugada syndrome causes sudden cardiac death in young, otherwise healthy individuals
- It is hereditary — 50% transmission risk per child of an affected parent
- Standard cardiac tests are often normal; genetic testing is the key diagnostic tool
- Extended family screening is essential when a mutation is identified
- Genetic counselling helps interpret results and guide next steps
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