KEGG DISEASE: Brugada syndrome

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 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-based classification of diseases [BR:br08402]
Signal transduction
  nt06528  Calcium signaling
   H00728  Brugada syndrome

Pathway

hsa04020

Calcium signaling pathway

Network

nt06528 Calcium signaling

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

PMID:16972995

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

Authors

Brugada R, Campuzano O, Brugada P, Brugada J, Hong K

Title

Brugada Syndrome

Journal

GeneReviews (1993)

Reference

PMID:21209740

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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Network (2)   
   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (9)   
   OMIM (9)   
Gene (18)   
   KEGG ORTHOLOGY (9)   
   KEGG GENES (9)   
Literature (12)   
   PubMed (12)   
All databases (41)   

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