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
Related
pathway
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04260  Cardiac muscle contraction
hsa04921  Oxytocin signaling pathway
hsa04010  MAPK signaling pathway
hsa04024  cAMP signaling pathway
Gene
(BRGDA1) SCN5A [HSA:6331] [KO:K04838]
(BRGDA2) GPD1L [HSA:23171] [KO:K00006]
(BRGDA3) CACNA1C [HSA:775] [KO:K04850]
(BRGDA4) CACNB2 [HSA:783] [KO:K04863]
(BRGDA5) SCN1B [HSA:6324] [KO:K04845]
(BRGDA6) KCNE3 [HSA:10008] [KO:K04897]
(BRGDA7) SCN3B [HSA:55800] [KO:K04847]
(BRGDA8) HCN4 [HSA:10021] [KO:K04957]
(BRGDA9) 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
  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
PMID:9521325 (SCN5A)
  Authors
Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P, Potenza D, Moya A, Borggrefe M, Breithardt G, Ortiz-Lopez R, Wang Z, Antzelevitch C, O'Brien RE, Schulze-Bahr E, Keating MT, Towbin JA, Wang Q
  Title
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.
  Journal
Nature 392:293-6 (1998)
DOI:10.1038/32675
Reference
PMID:17967977 (GPD1L)
  Authors
London B, Michalec M, Mehdi H, Zhu X, Kerchner L, Sanyal S, Viswanathan PC, Pfahnl AE, Shang LL, Madhusudanan M, Baty CJ, Lagana S, Aleong R, Gutmann R, Ackerman MJ, McNamara DM, Weiss R, Dudley SC Jr
  Title
Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias.
  Journal
Circulation 116:2260-8 (2007)
DOI:10.1161/CIRCULATIONAHA.107.703330
Reference
PMID:17224476 (CACNA1C CACNB2)
  Authors
Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y, Guerchicoff A, Pfeiffer R, Oliva A, Wollnik B, Gelber P, Bonaros EP Jr, Burashnikov E, Wu Y, Sargent JD, Schickel S, Oberheiden R, Bhatia A, Hsu LF, Haissaguerre M, Schimpf R, Borggrefe M, Wolpert C
  Title
Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.
  Journal
Circulation 115:442-9 (2007)
DOI:10.1161/CIRCULATIONAHA.106.668392
Reference
PMID:18464934 (SCN1B)
  Authors
Watanabe H, Koopmann TT, Le Scouarnec S, Yang T, Ingram CR, Schott JJ, Demolombe S, Probst V, Anselme F, Escande D, Wiesfeld AC, Pfeufer A, Kaab S, Wichmann HE, Hasdemir C, Aizawa Y, Wilde AA, Roden DM, Bezzina CR
  Title
Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.
  Journal
J Clin Invest 118:2260-8 (2008)
DOI:10.1172/JCI33891
Reference
PMID:19122847 (KCNE3)
  Authors
Delpon E, Cordeiro JM, Nunez L, Thomsen PE, Guerchicoff A, Pollevick GD, Wu Y, Kanters JK, Larsen CT, Hofman-Bang J, Burashnikov E, Christiansen M, Antzelevitch C
  Title
Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome.
  Journal
Circ Arrhythm Electrophysiol 1:209-18 (2008)
DOI:10.1161/CIRCEP.107.748103
Reference
PMID:20031595 (SCN3B)
  Authors
Hu D, Barajas-Martinez H, Burashnikov E, Springer M, Wu Y, Varro A, Pfeiffer R, Koopmann TT, Cordeiro JM, Guerchicoff A, Pollevick GD, Antzelevitch C
  Title
A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype.
  Journal
Circ Cardiovasc Genet 2:270-8 (2009)
DOI:10.1161/CIRCGENETICS.108.829192
Reference
PMID:19165230 (HCN4)
  Authors
Ueda K, Hirano Y, Higashiuesato Y, Aizawa Y, Hayashi T, Inagaki N, Tana T, Ohya Y, Takishita S, Muratani H, Hiraoka M, Kimura A
  Title
Role of HCN4 channel in preventing ventricular arrhythmia.
  Journal
J Hum Genet 54:115-21 (2009)
DOI:10.1038/jhg.2008.16
Reference
PMID:22457051 (KCND3)
  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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