| H00731 | |
| H番号 | H00731 |
| 名称 | 心房細動 |
| 概要 | Atrial fibrillation (AF, ATFB) is the most common cardiac arrhythmia and is regarded generally as a sporadic, acquired disorder. Nevertheless, recent growing evidence points to an important heritable basis for AF. By linkage analysis, several loci have been mapped for monogenetic AF. Some of these loci encode for subunits of potassium channels. |
| カテゴリ | 循環器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (ATFB3) KCNQ1 [HSA:3784] [KO:K04926] (ATFB4) KCNE2 [HSA:9992] [KO:K04896] (ATFB6) NPPA [HSA:4878] [KO:K12334] (ATFB7) KCNA5 [HSA:3741] [KO:K04878] (ATFB9) KCNJ2 [HSA:3759] [KO:K04996] (ATFB10) SCN5A [HSA:6331] [KO:K04838] (ATFB11) GJA5 [HSA:2702] [KO:K07614] (ATFB12) ABCC9 [HSA:10060] [KO:K05033] (ATFB13) SCN1B [HSA:6324] [KO:K04845] (ATFB14) SCN2B [HSA:6327] [KO:K04846] (ATFB15) NUP155 [HSA:9631] [KO:K14312] (ATFB16) SCN3B [HSA:55800] [KO:K04847] (ATFB17) SCN4B [HSA:6330] [KO:K04848] (ATFB18) MYL4 [HSA:4635] [KO:K12750] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | プロカインアミド塩酸塩 [DR:D00477] キニジン硫酸塩水和物 [DR:D02272] プロプラノロール塩酸塩 [DR:D00483] ビソプロロールフマル酸塩 [DR:D00634] ランジオロール塩酸塩 [DR:D01847] ジソピラミド [DR:D00303] フレカイニド酢酸塩 [DR:D00638] アミオダロン塩酸塩 [DR:D00636] ベラパミル塩酸塩 [DR:D00619] ベプリジル塩酸塩水和物 [DR:D00631] ビソプロロール [DR:D02342] カルベジロール [DR:D00255] アセブトロール塩酸塩 [DR:D00597] |
| コメント | - |
| リンク | ICD-11: BC81.3 ICD-10: I48 OMIM: 608583 607554 611493 612201 612240 613980 614022 614049 614050 615377 615378 615770 613120 611819 617280 |
| 文献 | PMID:18634977 著者 Tsai CT, Lai LP, Hwang JJ, Lin JL, Chiang FT タイトル Molecular genetics of atrial fibrillation. 雑誌 J Am Coll Cardiol 52:241-50 (2008) DOI:10.1016/j.jacc.2008.02.072 PMID:17768091 著者 Otway R, Vandenberg JI, Fatkin D タイトル Atrial fibrillation--a new cardiac channelopathy. 雑誌 Heart Lung Circ 16:356-60 (2007) DOI:10.1016/j.hlc.2007.07.003 PMID:12522251 (ATFB3) 著者 Chen YH, Xu SJ, Bendahhou S, Wang XL, Wang Y, Xu WY, Jin HW, Sun H, Su XY, Zhuang QN, Yang YQ, Li YB, Liu Y, Xu HJ, Li XF, Ma N, Mou CP, Chen Z, Barhanin J, Huang W タイトル KCNQ1 gain-of-function mutation in familial atrial fibrillation. 雑誌 Science 299:251-4 (2003) DOI:10.1126/science.1077771 PMID:15368194 (ATFB4) 著者 Yang Y, Xia M, Jin Q, Bendahhou S, Shi J, Chen Y, Liang B, Lin J, Liu Y, Liu B, Zhou Q, Zhang D, Wang R, Ma N, Su X, Niu K, Pei Y, Xu W, Chen Z, Wan H, Cui J, Barhanin J, Chen Y タイトル Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. 雑誌 Am J Hum Genet 75:899-905 (2004) DOI:10.1086/425342 PMID:18614783 (ATFB6) 著者 Hodgson-Zingman DM, Karst ML, Zingman LV, Heublein DM, Darbar D, Herron KJ, Ballew JD, de Andrade M, Burnett JC Jr, Olson TM タイトル Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. 雑誌 N Engl J Med 359:158-65 (2008) DOI:10.1056/NEJMoa0706300 PMID:16772329 (ATFB7) 著者 Olson TM, Alekseev AE, Liu XK, Park S, Zingman LV, Bienengraeber M, Sattiraju S, Ballew JD, Jahangir A, Terzic A タイトル Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation. 雑誌 Hum Mol Genet 15:2185-91 (2006) DOI:10.1093/hmg/ddl143 PMID:15922306 (ATFB9) 著者 Xia M, Jin Q, Bendahhou S, He Y, Larroque MM, Chen Y, Zhou Q, Yang Y, Liu Y, Liu B, Zhu Q, Zhou Y, Lin J, Liang B, Li L, Dong X, Pan Z, Wang R, Wan H, Qiu W, Xu W, Eurlings P, Barhanin J, Chen Y タイトル A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. 雑誌 Biochem Biophys Res Commun 332:1012-9 (2005) DOI:10.1016/j.bbrc.2005.05.054 PMID:16684018 (ATFB10) 著者 Laitinen-Forsblom PJ, Makynen P, Makynen H, Yli-Mayry S, Virtanen V, Kontula K, Aalto-Setala K タイトル SCN5A mutation associated with cardiac conduction defect and atrial arrhythmias. 雑誌 J Cardiovasc Electrophysiol 17:480-5 (2006) DOI:10.1111/j.1540-8167.2006.00411.x PMID:16790700 (ATFB11) 著者 Gollob MH, Jones DL, Krahn AD, Danis L, Gong XQ, Shao Q, Liu X, Veinot JP, Tang AS, Stewart AF, Tesson F, Klein GJ, Yee R, Skanes AC, Guiraudon GM, Ebihara L, Bai D タイトル Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation. 雑誌 N Engl J Med 354:2677-88 (2006) DOI:10.1056/NEJMoa052800 PMID:17245405 (ATFB12) 著者 Olson TM, Alekseev AE, Moreau C, Liu XK, Zingman LV, Miki T, Seino S, Asirvatham SJ, Jahangir A, Terzic A タイトル KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation. 雑誌 Nat Clin Pract Cardiovasc Med 4:110-6 (2007) DOI:10.1038/ncpcardio0792 PMID:19808477 (ATFB13 ATFB14) 著者 Watanabe H, Darbar D, Kaiser DW, Jiramongkolchai K, Chopra S, Donahue BS, Kannankeril PJ, Roden DM タイトル Mutations in sodium channel beta1- and beta2-subunits associated with atrial fibrillation. 雑誌 Circ Arrhythm Electrophysiol 2:268-75 (2009) DOI:10.1161/CIRCEP.108.779181 PMID:19070573 (ATFB15) 著者 Zhang X, Chen S, Yoo S, Chakrabarti S, Zhang T, Ke T, Oberti C, Yong SL, Fang F, Li L, de la Fuente R, Wang L, Chen Q, Wang QK タイトル Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death. 雑誌 Cell 135:1017-27 (2008) DOI:10.1016/j.cell.2008.10.022 PMID:21051419 (ATFB16) 著者 Olesen MS, Jespersen T, Nielsen JB, Liang B, Moller DV, Hedley P, Christiansen M, Varro A, Olesen SP, Haunso S, Schmitt N, Svendsen JH タイトル Mutations in sodium channel beta-subunit SCN3B are associated with early-onset lone atrial fibrillation. 雑誌 Cardiovasc Res 89:786-93 (2011) DOI:10.1093/cvr/cvq348 PMID:23604097 (ATFB17) 著者 Li RG, Wang Q, Xu YJ, Zhang M, Qu XK, Liu X, Fang WY, Yang YQ タイトル Mutations of the SCN4B-encoded sodium channel beta4 subunit in familial atrial fibrillation. 雑誌 Int J Mol Med 32:144-50 (2013) DOI:10.3892/ijmm.2013.1355 PMID:27066836 (ATFB18) 著者 Orr N, Arnaout R, Gula LJ, Spears DA, Leong-Sit P, Li Q, Tarhuni W, Reischauer S, Chauhan VS, Borkovich M, Uppal S, Adler A, Coughlin SR, Stainier DY, Gollob MH タイトル A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation. 雑誌 Nat Commun 7:11303 (2016) DOI:10.1038/ncomms11303 |