BRUGADA SYNDROME 1

General Information (adopted from Orphanet):

Synonyms, Signs: SUDDEN UNEXPLAINED NOCTURNAL DEATH SYNDROME
BRGDA1
SUNDS CARDIAC CONDUCTION DEFECT, NONSPECIFIC, INCLUDED
RIGHT BUNDLE BRANCH BLOCK, ST SEGMENT ELEVATION, AND SUDDEN DEATH SYNDROME
Number of Symptoms 3
OrphanetNr:
OMIM Id: 601144
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001695) Cardiac arrest 87 / 7739
2
(OMIM) Idiopathic ventricular fibrillation 1 / 7739
3
(OMIM) Right bundle branch block and ST segment elevation on ECG 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Brugada syndrome is characterized by an ST-segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with ...
Clinical Description OMIM Martini et al. (1989) described 6 patients with apparently idiopathic ventricular fibrillation, 3 of whom had a distinctive ECG pattern characterized by an upsloping ST segment in the right precordial leads ('early repolarization') in association with right bundle ...
Molecular genetics OMIM Screening of some families with the Brugada phenotype has revealed distinct mutations in the SCN5A gene (600163) which encodes the pore-forming alpha-subunit of the cardiac sodium channel (Chen et al., 1998). As pointed out by Rook et al. ...