Diagnosis of Brugada Syndrome
Diagnosis of Brugada syndrome is primarily based on an electrocardiogram (ECG). Furthermore, showing a distinct pattern known as a “type 1 Brugada pattern.” A confirmed diagnosis also takes into account family history, symptoms, and sometimes genetic testing.
The classic Brugada ECG pattern shows an elevated ST segment in the right chest leads (V1–V3). Often described as a “coved” shape. This pattern may not always be visible on a routine ECG. So specialised testing — such as a sodium channel blocker challenge — may be used to provoke the characteristic changes.
Doctors may also use Holter monitoring or exercise stress testing to monitor the heart’s rhythm over 24–48 hours. Especially if symptoms are infrequent or occur at night. An implantable loop recorder may be recommended in more complex cases to capture abnormal rhythms over weeks or months.
If a patient has a family history of Brugada syndrome or sudden cardiac death, screening of close relatives with ECGs and possibly genetic testing is important.
Genetic testing can identify mutations in the SCN5A gene or other related genes, although not all cases have a detectable mutation. Therefore, a normal genetic test does not rule out the condition.
Diagnosis of Brugada Syndrome
In some cases, an electrophysiology (EP) study may be performed to assess the heart’s susceptibility to dangerous arrhythmias. This test involves placing catheters into the heart to provoke abnormal rhythms under controlled conditions.
Diagnosis must also rule out other conditions that mimic Brugada syndrome, such as pericarditis, early repolarisation, or certain electrolyte imbalances.
An accurate diagnosis of Brugada syndrome enables timely management and can be lifesaving. It informs risk assessment and guides treatment decisions such as ICD placement or lifestyle modifications.
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