Trait: Brugada syndrome

Trait Information
Identifier Orphanet_130
Description 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. [NCIT: C142891]
Trait category
Cardiovascular disease
Synonyms 12 synonyms
  • Bangungut
  • Brugada syndrome
  • Brugada type idiopathic ventricular fibrillation
  • Dream disease
  • Idiopathic ventricular fibrillation, Brugada type
  • Pokkuri death syndrome
  • SUNDS
  • Sudden unexplained nocturnal death syndrome
  • dream disease
  • idiopathic ventricular fibrillation, Brugada type
  • right bundle branch block, ST segment elevation, and sudden death syndrome
  • sudden unexplained nocturnal death syndrome
Mapped term(s) 22 mapped terms
  • DOID:0050451
  • GARD:0001030
  • ICD10:I47.2
  • ICD10:I49.8
  • ICD9:746.89
  • MESH:D053840
  • MONDO:0015263
  • MeSH:D053840
  • MedDRA:10059027
  • NCIT:C142891
  • OMIM:601144
  • OMIM:611777
  • OMIM:611875
  • OMIM:611876
  • OMIM:612838
  • OMIM:613119
  • OMIM:613120
  • OMIM:613123
  • OMIM:616399
  • OMIMPS:601144
  • SCTID:418818005
  • UMLS:C1142166

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Multi-ancestry (including European)
Multi-ancestry (excluding European)
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Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution PGS Scoring File (FTP Link)
PGS000737
(PRS_BrS)
PGP000144 |
Tadros R et al. Eur Heart J (2019)
Brugada syndrome Brugada syndrome 3
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000737/ScoringFiles/PGS000737.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM)
Evaluated Score PGS Sample Set ID
(PSS)
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM001757 PGS000737
(PRS_BrS)
PSS000905|
European Ancestry|
1,185 individuals
PGP000144 |
Tadros R et al. Eur Heart J (2019)
Reported Trait: Ajmaline-induced Type I Brugada syndrome electrocardiogram OR: 1.174 [1.138, 1.21]
PPM001758 PGS000737
(PRS_BrS)
PSS000905|
European Ancestry|
1,185 individuals
PGP000144 |
Tadros R et al. Eur Heart J (2019)
Reported Trait: Ajmaline-induced Type I Brugada syndrome electrocardiogram C-index: 0.68 [0.65, 0.71] correlation coefficient (r): -0.14

Evaluated Samples

PGS Sample Set ID
(PSS)
Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000905 Intravenous ajmaline was administered at consecutive boluses of 10 mg/min. A 10-s ECG was recorded ∼1 min after each bolus using a GE Healthcare electrocardiograph. The test was stopped when the target dose of 1 mg/kg rounded up to the next 10 mg was reached, if ventricular arrhythmia occurred, or at the manifestation of a Type I BrS pattern, defined as an ST elevation >2 mm with a coved morphology in any lead among V1–V2 in the 2nd to 4th intercostal spaces.15 1,185 individuals European Amsterdam