KEGG   DISEASE: H00728Help
Entry
H00728                      Disease                                

Name
Brugada syndrome (BRS)
Description
The Brugada syndrome (BRS) is an autosomal dominant genetic disorder that is characterised by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. Diagnosis is based on clinical findings. Mutations in eight genes (SCN5A, GPD1L, CACNA1C, CACNB2, SCN1B, KCNE3, SCN3B, and HCN4) are known to cause BRS. In approximately 20% of the cases BRS is caused by mutations in the SCN5A gene, encoding the cardiac sodium channel.
Category
Cardiovascular disease
BRITE hierarchy
Pathway
MAPK signaling pathway
Calcium signaling pathway
Cardiac muscle contraction
Vascular smooth muscle contraction
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy
Gene
(BRS1) SCN5A [HSA:6331] [KO:K04838]
(BRS2) GPD1L [HSA:23171] [KO:K00006]
(BRS3) CACNA1C [HSA:775] [KO:K04850]
(BRS4) CACNB2 [HSA:783] [KO:K04863]
(BRS5) SCN1B [HSA:6324] [KO:K04845]
(BRS6) KCNE3 [HSA:10008] [KO:K04897]
(BRS7) SCN3B [HSA:55800] [KO:K04847]
(BRS8) HCN4 [HSA:10021] [KO:K04957]
Marker
Presenting with a typical ECG pattern of ST segment elevation in leads V1 to V3, and incomplete or complete right bundle branch block.
Drug
Implantation of a cardioverter defibrillator
Quinidine [DR:D08458]
Other DBs
Reference
  Authors
Napolitano C, Priori SG
  Title
Brugada syndrome.
  Journal
Orphanet J Rare Dis 1:35 (2006)
Reference
PMID:20301690 (mutations and treatments)
  Authors
Brugada R, Campuzano O, Brugada P, Brugada J, Hong K
  Title
Brugada Syndrome
  Journal
(1993)
Reference
  Authors
Kalavakunta JK, Bantu V, Tokala H, Kodenchery M
  Title
Sudden cause of cardiac death-be aware of me: a case report and short review on brugada syndrome.
  Journal
Case Report Med 2010:823490 (2010)
Reference
PMID:1309182
  Authors
Brugada P, Brugada J
  Title
Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report.
  Journal
J Am Coll Cardiol 20:1391-6 (1992)

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