Brugada Syndrome Diagnosis
Brugada syndrome is diagnosed by demonstrating a coved ST-segment elevation ≥2 mm (type 1 morphology) in right precordial leads V1 and/or V2 positioned in the 2nd, 3rd, or 4th intercostal space, occurring either spontaneously or after sodium channel blocker challenge. 1
Electrocardiographic Diagnostic Criteria
The type 1 Brugada pattern is the only diagnostic ECG finding and consists of a coved rSr' morphology with ST-segment elevation ≥2 mm followed by a negative T-wave in leads V1-V3. 1, 2
High precordial lead placement (2nd and 3rd intercostal spaces) significantly improves detection sensitivity because the characteristic pattern may be missed with standard lead positioning. 1
Serial ECG recordings are essential because the type 1 pattern is transient and can fluctuate between normal and abnormal; a single normal ECG does not exclude the diagnosis. 1
The ECG pattern may be intermittent and present only during specific triggers including fever, vagotonic states (rest or sleep), or after administration of sodium channel blockers. 3, 4
Sodium Channel Blocker Provocation Testing
When baseline ECG shows type 2 or 3 pattern with high clinical suspicion, perform provocation testing with ajmaline (1 mg/kg IV), flecainide (2 mg/kg IV or 300 mg oral), or procainamide in a monitored setting with resuscitation equipment immediately available. 1, 5
Terminate the test immediately if ventricular arrhythmias develop, marked QRS widening occurs (>130% of baseline), or type 1 pattern emerges. 1
Patients with only drug-induced type 1 pattern have significantly lower risk (annual event rate <1%) compared to those with spontaneous pattern, and this distinction is critical for management decisions. 1
Clinical Context Required for Diagnosis
The diagnosis requires the type 1 ECG pattern PLUS at least one of the following clinical criteria: documented ventricular fibrillation or polymorphic ventricular tachycardia, family history of sudden cardiac death <50 years, presence of type 1 ECG in family members, syncope (particularly at rest or during sleep), or aborted cardiac arrest. 3, 2
Exclude structural heart disease through echocardiography and other appropriate imaging, as the diagnosis requires absence of structural abnormalities. 3
Key Diagnostic Triggers to Assess
Fever is a critical trigger that unmasks the ECG pattern and directly precipitates ventricular fibrillation; specifically ask about arrhythmic events during febrile illnesses. 3, 4, 6
Syncope occurring at rest or during sleep (reflecting enhanced vagal tone) is a high-risk symptom that distinguishes intermediate-risk from low-risk patients. 3, 2
Exposure to sodium channel blockers, psychotropic medications, certain anesthetics, or cocaine can unmask the pattern and trigger arrhythmias. 1, 4
Genetic Testing Role
Genetic testing identifies pathogenic variants in only 20-30% of phenotype-positive individuals, with SCN5A mutations accounting for the majority. 1
A negative genetic test does NOT exclude the diagnosis; clinical and electrocardiographic criteria remain paramount. 1
Genetic testing is valuable for cascade screening of first-degree relatives to identify at-risk family members, but does not influence individual prognosis or treatment decisions. 1, 6
Genotype does not correlate with risk of adverse events; risk stratification must be based on symptoms and clinical findings, not genetic status. 1
Common Diagnostic Pitfalls
Do not rely on standard precordial lead placement alone—always repeat with high precordial positioning (2nd-3rd intercostal spaces) to maximize sensitivity. 1
Do not dismiss the diagnosis based on a single normal ECG—the pattern is dynamic and requires serial recordings or provocation testing when clinical suspicion is high. 1
Do not confuse type 2 or 3 patterns with diagnostic type 1 pattern—only the coved type 1 morphology is diagnostic; types 2 and 3 require pharmacological confirmation. 1
Do not overlook the importance of correct lead placement verification—misplaced leads are a common cause of false-positive and false-negative results. 1