| H00728 | |
| H番号 | H00728 |
| 名称 | ブルガダ症候群 |
| 概要 | 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. |
| カテゴリ | 循環器系疾患 |
| ネットワーク | nt06528 Calcium signaling |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: BC65.1 ICD-10: I49.0 OMIM: 601144 611777 611875 611876 612838 613119 613120 613123 616399 |
| 文献 | PMID:16972995 著者 Napolitano C, Priori SG タイトル Brugada syndrome. 雑誌 Orphanet J Rare Dis 1:35 (2006) DOI:10.1186/1750-1172-1-35 PMID:20301690 著者 Brugada R, Campuzano O, Brugada P, Brugada J, Hong K タイトル Brugada Syndrome 雑誌 GeneReviews (1993) PMID:21209740 著者 Kalavakunta JK, Bantu V, Tokala H, Kodenchery M タイトル Sudden cause of cardiac death-be aware of me: a case report and short review on brugada syndrome. 雑誌 Case Report Med 2010:823490 (2010) DOI:10.1155/2010/823490 PMID:1309182 著者 Brugada P, Brugada J タイトル Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report. 雑誌 J Am Coll Cardiol 20:1391-6 (1992) DOI:10.1016/0735-1097(92)90253-J PMID:9521325 (SCN5A) 著者 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 タイトル Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. 雑誌 Nature 392:293-6 (1998) DOI:10.1038/32675 PMID:17967977 (GPD1L) 著者 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 タイトル Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. 雑誌 Circulation 116:2260-8 (2007) DOI:10.1161/CIRCULATIONAHA.107.703330 PMID:17224476 (CACNA1C CACNB2) 著者 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 タイトル 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. 雑誌 Circulation 115:442-9 (2007) DOI:10.1161/CIRCULATIONAHA.106.668392 PMID:18464934 (SCN1B) 著者 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 タイトル Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. 雑誌 J Clin Invest 118:2260-8 (2008) DOI:10.1172/JCI33891 PMID:19122847 (KCNE3) 著者 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 タイトル Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome. 雑誌 Circ Arrhythm Electrophysiol 1:209-18 (2008) DOI:10.1161/CIRCEP.107.748103 PMID:20031595 (SCN3B) 著者 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 タイトル A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. 雑誌 Circ Cardiovasc Genet 2:270-8 (2009) DOI:10.1161/CIRCGENETICS.108.829192 PMID:19165230 (HCN4) 著者 Ueda K, Hirano Y, Higashiuesato Y, Aizawa Y, Hayashi T, Inagaki N, Tana T, Ohya Y, Takishita S, Muratani H, Hiraoka M, Kimura A タイトル Role of HCN4 channel in preventing ventricular arrhythmia. 雑誌 J Hum Genet 54:115-21 (2009) DOI:10.1038/jhg.2008.16 PMID:22457051 (KCND3) 著者 Giudicessi JR, Ye D, Kritzberger CJ, Nesterenko VV, Tester DJ, Antzelevitch C, Ackerman MJ タイトル Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death. 雑誌 Hum Mutat 33:989-97 (2012) DOI:10.1002/humu.22058 |