| H00728 | |
| H number | H00728 |
| 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 |
| 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| 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 PMID:20301690 AUTHORS Brugada R, Campuzano O, Brugada P, Brugada J, Hong K TITLE Brugada Syndrome JOURNAL GeneReviews (1993) 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 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 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 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 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 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 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 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 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 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 |