KEGG DISEASE: Atrial fibrillation

DISEASE: Atrial fibrillation

Entry

H00731                      Disease

Name

Atrial fibrillation

Description

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.

Category

Cardiovascular disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
11 Diseases of the circulatory system
  Cardiac arrhythmia
   Supraventricular rhythm disturbance
    BC81  Supraventricular tachyarrhythmia
     H00731  Atrial fibrillation
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06539  Cytoskeleton in muscle cells
   H00731  Atrial fibrillation
Endocrine system
  nt06325  Hormone/cytokine signaling
   H00731  Atrial fibrillation

Pathway

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

Network

nt06325 Hormone/cytokine signaling
nt06539 Cytoskeleton in muscle cells

Gene

(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]

Drug

Quinidine sulfate [DR:D02272]
Flecainide acetate [DR:D00638]
Propranolol hydrochloride [DR:D00483]
Verapamil hydrochloride [DR:D00619]

Other DBs

ICD-11:

BC81.3

ICD-10:

I48

OMIM:

608583 607554 611493 612201 612240 613980 614022 614049 614050 615377 615378 615770 613120 611819 617280

Reference

PMID:18634977

Authors

Tsai CT, Lai LP, Hwang JJ, Lin JL, Chiang FT

Title

Molecular genetics of atrial fibrillation.

Journal

J Am Coll Cardiol 52:241-50 (2008)
DOI:10.1016/j.jacc.2008.02.072

Reference

PMID:17768091

Authors

Otway R, Vandenberg JI, Fatkin D

Title

Atrial fibrillation--a new cardiac channelopathy.

Journal

Heart Lung Circ 16:356-60 (2007)
DOI:10.1016/j.hlc.2007.07.003

Reference

PMID:12522251 (ATFB3)

Authors

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

Title

KCNQ1 gain-of-function mutation in familial atrial fibrillation.

Journal

Science 299:251-4 (2003)
DOI:10.1126/science.1077771

Reference

PMID:15368194 (ATFB4)

Authors

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

Title

Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation.

Journal

Am J Hum Genet 75:899-905 (2004)
DOI:10.1086/425342

Reference

PMID:18614783 (ATFB6)

Authors

Hodgson-Zingman DM, Karst ML, Zingman LV, Heublein DM, Darbar D, Herron KJ, Ballew JD, de Andrade M, Burnett JC Jr, Olson TM

Title

Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation.

Journal

N Engl J Med 359:158-65 (2008)
DOI:10.1056/NEJMoa0706300

Reference

PMID:16772329 (ATFB7)

Authors

Olson TM, Alekseev AE, Liu XK, Park S, Zingman LV, Bienengraeber M, Sattiraju S, Ballew JD, Jahangir A, Terzic A

Title

Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation.

Journal

Hum Mol Genet 15:2185-91 (2006)
DOI:10.1093/hmg/ddl143

Reference

PMID:15922306 (ATFB9)

Authors

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

Title

A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation.

Journal

Biochem Biophys Res Commun 332:1012-9 (2005)
DOI:10.1016/j.bbrc.2005.05.054

Reference

PMID:16684018 (ATFB10)

Authors

Laitinen-Forsblom PJ, Makynen P, Makynen H, Yli-Mayry S, Virtanen V, Kontula K, Aalto-Setala K

Title

SCN5A mutation associated with cardiac conduction defect and atrial arrhythmias.

Journal

J Cardiovasc Electrophysiol 17:480-5 (2006)
DOI:10.1111/j.1540-8167.2006.00411.x

Reference

PMID:16790700 (ATFB11)

Authors

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

Title

Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation.

Journal

N Engl J Med 354:2677-88 (2006)
DOI:10.1056/NEJMoa052800

Reference

PMID:17245405 (ATFB12)

Authors

Olson TM, Alekseev AE, Moreau C, Liu XK, Zingman LV, Miki T, Seino S, Asirvatham SJ, Jahangir A, Terzic A

Title

KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.

Journal

Nat Clin Pract Cardiovasc Med 4:110-6 (2007)
DOI:10.1038/ncpcardio0792

Reference

PMID:19808477 (ATFB13 ATFB14)

Authors

Watanabe H, Darbar D, Kaiser DW, Jiramongkolchai K, Chopra S, Donahue BS, Kannankeril PJ, Roden DM

Title

Mutations in sodium channel beta1- and beta2-subunits associated with atrial fibrillation.

Journal

Circ Arrhythm Electrophysiol 2:268-75 (2009)
DOI:10.1161/CIRCEP.108.779181

Reference

PMID:19070573 (ATFB15)

Authors

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

Title

Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death.

Journal

Cell 135:1017-27 (2008)
DOI:10.1016/j.cell.2008.10.022

Reference

PMID:21051419 (ATFB16)

Authors

Olesen MS, Jespersen T, Nielsen JB, Liang B, Moller DV, Hedley P, Christiansen M, Varro A, Olesen SP, Haunso S, Schmitt N, Svendsen JH

Title

Mutations in sodium channel beta-subunit SCN3B are associated with early-onset lone atrial fibrillation.

Journal

Cardiovasc Res 89:786-93 (2011)
DOI:10.1093/cvr/cvq348

Reference

PMID:23604097 (ATFB17)

Authors

Li RG, Wang Q, Xu YJ, Zhang M, Qu XK, Liu X, Fang WY, Yang YQ

Title

Mutations of the SCN4B-encoded sodium channel beta4 subunit in familial atrial fibrillation.

Journal

Int J Mol Med 32:144-50 (2013)
DOI:10.3892/ijmm.2013.1355

Reference

PMID:27066836 (ATFB18)

Authors

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

Title

A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation.

Journal

Nat Commun 7:11303 (2016)
DOI:10.1038/ncomms11303

LinkDB

» Japanese version

DISEASE: Atrial standstill

Entry

H02674                      Disease

Name

Atrial standstill

Subgroup

Atrial cardiomyopathy with heart block
Cardiomyopathy, familial, with conduction disturbance

Description

Atrial standstill (AS, ATRST) is a rare cardiac arrhythmia characterized by transient or persistent absence of electrical and mechanical activity in the atria. On surface electrocardiogram, AS is distinguished by absence of the P wave, bradycardia, and junctional or ventricular escape rhythm.