KEGG   DISEASE: 心房細動
エントリ  
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
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 11 循環器系の疾患
  不整脈
   上室性調律異常
    BC81  上室頻脈性不整脈
     H00731  心房細動
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06539  筋細胞の細胞骨格
   H00731  心房細動
 内分泌系
  nt06325  ホルモンとサイトカインのシグナリング
   H00731  心房細動
パスウェイ 
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04270  Vascular smooth muscle contraction
hsa04921  Oxytocin signaling pathway
hsa04725  Cholinergic synapse
hsa04924  Renin secretion
hsa04820  Cytoskeleton in muscle cells
ネットワーク
nt06325 Hormone/cytokine signaling
nt06539 Cytoskeleton in muscle cells
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]
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]
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    
  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
文献    
  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
文献    
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
文献    
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
文献    
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
文献    
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
文献    
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
文献    
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
文献    
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
文献    
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
文献    
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
文献    
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
文献    
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
文献    
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
文献    
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
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