What evaluation and management are recommended for a 43-year-old male with a family history (FH) of Brugada syndrome who wants to be tested?

Evaluation and Management for a 43-Year-Old Male with Family History of Brugada Syndrome

For a 43-year-old male with a family history of Brugada syndrome who wants to be tested, referral to a cardiologist or heart rhythm specialist is recommended as the first step, followed by a comprehensive cardiac evaluation including ECG with high precordial lead placement, sodium channel blocker challenge if initial ECG is non-diagnostic, and consideration of genetic testing. 1

Initial Evaluation

ECG Testing

• Obtain a 12-lead ECG as the first diagnostic test
• Include high precordial lead ECG with leads V1 and V2 positioned in the 2nd intercostal space (improves detection of Brugada pattern) 1
• Look for:
  • Type 1 Brugada pattern: coved ST elevation ≥2 mm followed by negative T wave in right precordial leads 1
  • Type 2 or 3 patterns: "saddle-back" ST elevation (not diagnostic alone) 1

Pharmacological Challenge

• If initial ECG does not show spontaneous Type 1 pattern but Brugada syndrome is suspected:
  • Perform pharmacological challenge using sodium channel blockers (flecainide, procainamide, or ajmaline) 1, 2
  • Test should be performed under cardiologist supervision
  • Test should be terminated immediately if:
    • Type 1 Brugada pattern develops
    • Ventricular arrhythmias occur
    • QRS widens significantly 1

Genetic Testing

• Genetic testing should be considered to facilitate cascade screening of relatives 1
• SCN5A gene testing is most common (accounts for ~20% of Brugada syndrome cases) 3
• Important considerations:
  • A negative genetic test does not exclude the diagnosis 1
  • Genetic testing yield is approximately 20-30% in phenotype-positive patients 1
  • Results currently do not influence prognosis or treatment decisions 2
  • Particularly useful when a mutation is identified to extend testing to first-degree relatives 3

Risk Stratification

High-Risk Features (requiring more aggressive management):

• Spontaneous Type 1 Brugada ECG pattern 1, 4
• History of symptoms (syncope, aborted sudden cardiac death) 1, 4
• Male sex 3

Additional Testing to Consider:

• 24-hour Holter monitoring to detect:
  • Diurnal variability of ST segment changes
  • Fragmented QRS complexes
  • Arrhythmias 5
• Electrophysiological study with programmed ventricular stimulation may be considered for further risk stratification in asymptomatic patients with spontaneous Type 1 pattern 1

Management Recommendations

For Asymptomatic Individuals with Only Brugada ECG Pattern:

• Observation without specific therapy 1
• Education about:
  • Avoiding triggers: fever, certain medications, excessive alcohol, large meals 2
  • Prompt treatment of fever with antipyretics 2
  • Importance of reporting any symptoms (especially syncope) 3
  • Regular cardiology follow-up 3

For Higher-Risk Patients:

• ICD implantation for those with:
  • Spontaneous Type 1 pattern and history of cardiac arrest or syncope presumed due to ventricular arrhythmias 1
  • Both spontaneous Type 1 pattern and symptoms (highest risk) 4

Medication Considerations:

• Quinidine may be considered for:
  • Patients who are not candidates for or decline an ICD 1
  • Patients with recurrent ICD shocks 1
• Avoid medications known to exacerbate Brugada syndrome (consult www.brugadadrugs.org) 2

Family Screening

• First-degree relatives should be offered:
  • Clinical evaluation
  • 12-lead ECG
  • Consideration of sodium channel blocker challenge if initial ECG is negative 3
  • Genetic testing if a pathogenic mutation is identified in the proband 3

Follow-up

• Regular cardiology follow-up for all patients with Brugada ECG pattern
• More frequent monitoring for those with spontaneous Type 1 pattern
• Prompt evaluation of any new symptoms, particularly syncope

Remember that the risk of sudden cardiac death is highest in patients with both spontaneous Type 1 Brugada ECG pattern and symptoms at diagnosis 4. Early identification and appropriate management can significantly reduce mortality in this inherited cardiac condition.