DISEASE SCANNER

Global Incurable Diseases Tracker

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Cardiac Disease

Brugada Syndrome

HIGH SEVERITY

An inherited channelopathy characterized by specific ECG pattern (coved ST elevation) in V1-V3 and increased risk of ventricular fibrillation and sudden cardiac death. Most common in Southeast Asian males. Often presents during sleep or fever.

Global Affected

1.0M

Countries

21

Symptoms

Syncope
Sudden cardiac death
Palpitations
Nocturnal agonal respiration
Often asymptomatic
Cardiac arrest
Seizures

Treatment Options

ICD (only proven therapy)
Quinidine (adjunctive)
Isoproterenol (acute electrical storms)
Ablation (epicardial substrate)
Avoidance of fever
Avoidance of specific drugs
Family screening

Risk Factors

1SCN5A gene mutations
2Male gender
3Asian ancestry
4Fever
5Family history
6Syncope
7Spontaneous type 1 ECG

Diagnostic Methods

  • 112-lead ECG
  • 2Flecainide/procainamide challenge
  • 3Genetic testing
  • 4Electrophysiology study
  • 5Signal-averaged ECG
  • 6Family screening

Prognosis

Variable; 0.5-1.5% annual event rate in symptomatic patients. ICD prevents sudden death. Asymptomatic patients have better prognosis.

Prevention

  • Genetic counseling
  • Family screening
  • ICD implantation (high-risk)
  • Avoidance of fever
  • Avoidance of contraindicated drugs

Research Status

ICD (only proven therapy) and Quinidine (adjunctive) are primary treatments. Research focuses on improved therapies and outcomes.

Sources

  • https://www.heart.org/en/health-topics/arrhythmia
  • https://www.ncbi.nlm.nih.gov/books/NBK1512
  • https://www.hematology.org/education/patients
  • https://www.ncbi.nlm.nih.gov/books
  • https://rarediseases.org/rare-diseases

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.