Brugada syndrome
Findings
No curated finding names Brugada syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death.
Definition from the Mondo Disease Ontology (MONDO:0015263), read 2026-09-29. CC BY 4.0.
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cardiac arrestHPOHP:0001695
- Frequent (30% to 79% of cases)
- Complete right bundle branch blockHPOHP:0011712
- Frequent (30% to 79% of cases)
- ST segment elevationHPOHP:0012251
- Frequent (30% to 79% of cases)
- SyncopeHPOHP:0001279
- Frequent (30% to 79% of cases)
- First degree atrioventricular blockHPOHP:0011705
- Occasional (5% to 29% of cases)
- Paroxysmal ventricular tachycardiaHPOHP:0004751
- Occasional (5% to 29% of cases)
- Sick sinus syndromeHPOHP:0011704
- Occasional (5% to 29% of cases)
- Supraventricular tachycardiaHPOHP:0004755
- Occasional (5% to 29% of cases)
- TachycardiaHPOHP:0001649
- Occasional (5% to 29% of cases)
- Ventricular fibrillationHPOHP:0001663
- Occasional (5% to 29% of cases)
- Trifascicular blockHPOHP:0011715
- Very rare (1% to 4% of cases)
- Ventricular arrhythmiaHPOHP:0004308
- Very rare (1% to 4% of cases)
Genes
29 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KCNH2HGNC:6251
- Moderate · Genomics England PanelApp · Autosomal dominant · 2021
- Disputed Evidence · ClinGen · Autosomal dominant · 2025
- Disputed Evidence · G2P · Autosomal dominant · 2025
- CACNA1CHGNC:1390
- Supportive · Orphanet · Autosomal dominant · 2021
- Disputed Evidence · ClinGen · Autosomal dominant · 2025
- Disputed Evidence · G2P · Autosomal dominant · 2025
- SCN2BHGNC:10589
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Genomics England PanelApp · Autosomal dominant · 2021
- Disputed Evidence · G2P · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: Brugada syndrome
- Also called
- Brugada type idiopathic ventricular fibrillationidiopathic ventricular fibrillation, Brugada typeright bundle branch block, ST segment elevation, and sudden death syndromesudden unexplained nocturnal death syndrome