KEGG   DISEASE: Brugada syndrome
Entry
H00728                      Disease                                

Name
Brugada syndrome
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 nine genes (SCN5A, GPD1L, CACNA1C, CACNB2, SCN1B, KCNE3, SCN3B, HCN4, and KCND3) 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
Human diseases [BR:br08402]
 Cardiovascular diseases
  Cardiac diseases
   H00728  Brugada syndrome
Human diseases in ICD-11 classification [BR:br08403]
 11 Diseases of the circulatory system
  Cardiac arrhythmia
   BC65  Cardiac arrhythmia associated with genetic disorder
    H00728  Brugada syndrome
Pathway
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04260  Cardiac muscle contraction
hsa04270  Vascular smooth muscle contraction
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  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]
(BRS9) KCND3 [HSA:3752] [KO:K04893]
Other DBs
ICD-11: BC65.1
ICD-10: I49.0
OMIM: 601144 611777 611875 611876 612838 613119 613120 613123 616399
Reference
  Authors
Napolitano C, Priori SG
  Title
Brugada syndrome.
  Journal
Orphanet J Rare Dis 1:35 (2006)
DOI:10.1186/1750-1172-1-35
Reference
PMID:20301690 (mutations and treatments)
  Authors
Brugada R, Campuzano O, Brugada P, Brugada J, Hong K
  Title
Brugada Syndrome
  Journal
GeneReviews (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)
DOI:10.1155/2010/823490
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)
DOI:10.1016/0735-1097(92)90253-J
Reference
  Authors
Giudicessi JR, Ye D, Kritzberger CJ, Nesterenko VV, Tester DJ, Antzelevitch C, Ackerman MJ
  Title
Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death.
  Journal
Hum Mutat 33:989-97 (2012)
DOI:10.1002/humu.22058
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