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Atrial fibrillation, familial, 13(ATFB13)

MedGen UID:
815641
Concept ID:
C3809311
Disease or Syndrome
Synonym: ATFB13
 
Gene (location): SCN1B (19q13.11)
 
Monarch Initiative: MONDO:0014155
OMIM®: 615377

Definition

Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997). For a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 (608583). [from OMIM]

Additional description

From MedlinePlus Genetics
Familial atrial fibrillation is an inherited abnormality of the heart's normal rhythm. Atrial fibrillation is characterized by episodes of uncoordinated electrical activity (fibrillation) in the heart's upper chambers (the atria), which cause a fast and irregular heartbeat. If untreated, this abnormal heart rhythm (arrhythmia) can lead to dizziness, chest pain, a sensation of fluttering or pounding in the chest (palpitations), shortness of breath, or fainting (syncope). Atrial fibrillation also increases the risk of stroke and sudden death. Complications of atrial fibrillation can occur at any age, although some people with this heart condition never experience any health problems associated with the disorder.  https://medlineplus.gov/genetics/condition/familial-atrial-fibrillation

Clinical features

From HPO
Aortic valve stenosis
MedGen UID:
1621
Concept ID:
C0003507
Pathologic Function
The presence of a stenosis (narrowing) of the aortic valve.
Paroxysmal atrial fibrillation
MedGen UID:
115990
Concept ID:
C0235480
Disease or Syndrome
Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.
Left atrial enlargement
MedGen UID:
536845
Concept ID:
C0238705
Finding
Increase in size of the left atrium.

Professional guidelines

PubMed

Chang JL, Goldberg AN, Alt JA, Mohammed A, Ashbrook L, Auckley D, Ayappa I, Bakhtiar H, Barrera JE, Bartley BL, Billings ME, Boon MS, Bosschieter P, Braverman I, Brodie K, Cabrera-Muffly C, Caesar R, Cahali MB, Cai Y, Cao M, Capasso R, Caples SM, Chahine LM, Chang CP, Chang KW, Chaudhary N, Cheong CSJ, Chowdhuri S, Cistulli PA, Claman D, Collen J, Coughlin KC, Creamer J, Davis EM, Dupuy-McCauley KL, Durr ML, Dutt M, Ali ME, Elkassabany NM, Epstein LJ, Fiala JA, Freedman N, Gill K, Gillespie MB, Golisch L, Gooneratne N, Gottlieb DJ, Green KK, Gulati A, Gurubhagavatula I, Hayward N, Hoff PT, Hoffmann OMG, Holfinger SJ, Hsia J, Huntley C, Huoh KC, Huyett P, Inala S, Ishman SL, Jella TK, Jobanputra AM, Johnson AP, Junna MR, Kado JT, Kaffenberger TM, Kapur VK, Kezirian EJ, Khan M, Kirsch DB, Kominsky A, Kryger M, Krystal AD, Kushida CA, Kuzniar TJ, Lam DJ, Lettieri CJ, Lim DC, Lin HC, Liu SYC, MacKay SG, Magalang UJ, Malhotra A, Mansukhani MP, Maurer JT, May AM, Mitchell RB, Mokhlesi B, Mullins AE, Nada EM, Naik S, Nokes B, Olson MD, Pack AI, Pang EB, Pang KP, Patil SP, Van de Perck E, Piccirillo JF, Pien GW, Piper AJ, Plawecki A, Quigg M, Ravesloot MJL, Redline S, Rotenberg BW, Ryden A, Sarmiento KF, Sbeih F, Schell AE, Schmickl CN, Schotland HM, Schwab RJ, Seo J, Shah N, Shelgikar AV, Shochat I, Soose RJ, Steele TO, Stephens E, Stepnowsky C, Strohl KP, Sutherland K, Suurna MV, Thaler E, Thapa S, Vanderveken OM, de Vries N, Weaver EM, Weir ID, Wolfe LF, Woodson BT, Won CHJ, Xu J, Yalamanchi P, Yaremchuk K, Yeghiazarians Y, Yu JL, Zeidler M, Rosen IM
Int Forum Allergy Rhinol 2023 Jul;13(7):1061-1482. Epub 2023 Mar 30 doi: 10.1002/alr.23079. PMID: 36068685Free PMC Article
Ramesh T, Lee PYK, Mitta M, Allencherril J
J Cardiol 2021 Nov;78(5):375-381. Epub 2021 Jun 20 doi: 10.1016/j.jjcc.2021.06.001. PMID: 34162502
Kirchhof P, Benussi S, Kotecha D, Ahlsson A, Atar D, Casadei B, Castella M, Diener HC, Heidbuchel H, Hendriks J, Hindricks G, Manolis AS, Oldgren J, Popescu BA, Schotten U, Van Putte B, Vardas P; ESC Scientific Document Group
Eur Heart J 2016 Oct 7;37(38):2893-2962. Epub 2016 Aug 27 doi: 10.1093/eurheartj/ehw210. PMID: 27567408

Curated

UK NICE Guideline NG196, Atrial fibrillation: diagnosis and management, 2021

Recent clinical studies

Etiology

Sha R, Baines O, Hayes A, Tompkins K, Kalla M, Holmes AP, O'Shea C, Pavlovic D
J Am Heart Assoc 2024 Jan 2;13(1):e032277. Epub 2023 Dec 29 doi: 10.1161/JAHA.123.032277. PMID: 38156451Free PMC Article
Noseworthy PA, Attia ZI, Behnken EM, Giblon RE, Bews KA, Liu S, Gosse TA, Linn ZD, Deng Y, Yin J, Gersh BJ, Graff-Radford J, Rabinstein AA, Siontis KC, Friedman PA, Yao X
Lancet 2022 Oct 8;400(10359):1206-1212. Epub 2022 Sep 27 doi: 10.1016/S0140-6736(22)01637-3. PMID: 36179758
Polidori MC, Alves M, Bahat G, Boureau AS, Ozkok S, Pfister R, Pilotto A, Veronese N, Bo M; Special Interest Group “Cardiovascular Diseases” of the EuGMS
Eur Geriatr Med 2022 Feb;13(1):5-18. Epub 2021 Nov 2 doi: 10.1007/s41999-021-00537-w. PMID: 34727362Free PMC Article
Zhang J, Johnsen SP, Guo Y, Lip GYH
Card Electrophysiol Clin 2021 Mar;13(1):1-23. Epub 2021 Jan 8 doi: 10.1016/j.ccep.2020.10.010. PMID: 33516388
Bessissow A, Khan J, Devereaux PJ, Alvarez-Garcia J, Alonso-Coello P
J Thromb Haemost 2015 Jun;13 Suppl 1:S304-12. doi: 10.1111/jth.12974. PMID: 26149040

Diagnosis

Li N, Chelu MG, Birnbaum Y
Cardiovasc Drugs Ther 2024 Feb;38(1):1-3. Epub 2024 Feb 6 doi: 10.1007/s10557-024-07543-7. PMID: 38319469Free PMC Article
Dai H, Hou T, Wang Q, Hou Y, Zhu Z, Zhu Y, Zhao Z, Li M, Lin H, Wang S, Zheng R, Xu Y, Lu J, Wang T, Ning G, Wang W, Zheng J, Bi Y, Xu M
Cardiovasc Diabetol 2023 Nov 8;22(1):306. doi: 10.1186/s12933-023-02045-6. PMID: 37940997Free PMC Article
Noseworthy PA, Attia ZI, Behnken EM, Giblon RE, Bews KA, Liu S, Gosse TA, Linn ZD, Deng Y, Yin J, Gersh BJ, Graff-Radford J, Rabinstein AA, Siontis KC, Friedman PA, Yao X
Lancet 2022 Oct 8;400(10359):1206-1212. Epub 2022 Sep 27 doi: 10.1016/S0140-6736(22)01637-3. PMID: 36179758
Polidori MC, Alves M, Bahat G, Boureau AS, Ozkok S, Pfister R, Pilotto A, Veronese N, Bo M; Special Interest Group “Cardiovascular Diseases” of the EuGMS
Eur Geriatr Med 2022 Feb;13(1):5-18. Epub 2021 Nov 2 doi: 10.1007/s41999-021-00537-w. PMID: 34727362Free PMC Article
Wang QC, Wang ZY
J Cardiovasc Transl Res 2020 Dec;13(6):944-952. Epub 2020 May 6 doi: 10.1007/s12265-020-10008-5. PMID: 32378163

Therapy

McIntyre WF, Benz AP, Becher N, Healey JS, Granger CB, Rivard L, Camm AJ, Goette A, Zapf A, Alings M, Connolly SJ, Kirchhof P, Lopes RD
Circulation 2024 Mar 26;149(13):981-988. Epub 2023 Nov 12 doi: 10.1161/CIRCULATIONAHA.123.067512. PMID: 37952187
D'Amico F, Fominskiy EV, Turi S, Pruna A, Fresilli S, Triulzi M, Zangrillo A, Landoni G
Br J Anaesth 2023 Nov;131(5):823-831. Epub 2023 Sep 20 doi: 10.1016/j.bja.2023.08.026. PMID: 37739903
Packer DL, Mark DB, Robb RA, Monahan KH, Bahnson TD, Poole JE, Noseworthy PA, Rosenberg YD, Jeffries N, Mitchell LB, Flaker GC, Pokushalov E, Romanov A, Bunch TJ, Noelker G, Ardashev A, Revishvili A, Wilber DJ, Cappato R, Kuck KH, Hindricks G, Davies DW, Kowey PR, Naccarelli GV, Reiffel JA, Piccini JP, Silverstein AP, Al-Khalidi HR, Lee KL; CABANA Investigators
JAMA 2019 Apr 2;321(13):1261-1274. doi: 10.1001/jama.2019.0693. PMID: 30874766Free PMC Article
López-López JA, Sterne JAC, Thom HHZ, Higgins JPT, Hingorani AD, Okoli GN, Davies PA, Bodalia PN, Bryden PA, Welton NJ, Hollingworth W, Caldwell DM, Savović J, Dias S, Salisbury C, Eaton D, Stephens-Boal A, Sofat R
BMJ 2017 Nov 28;359:j5058. doi: 10.1136/bmj.j5058. PMID: 29183961Free PMC Article
Ruff CT, Giugliano RP, Braunwald E, Hoffman EB, Deenadayalu N, Ezekowitz MD, Camm AJ, Weitz JI, Lewis BS, Parkhomenko A, Yamashita T, Antman EM
Lancet 2014 Mar 15;383(9921):955-62. Epub 2013 Dec 4 doi: 10.1016/S0140-6736(13)62343-0. PMID: 24315724

Prognosis

Naser JA, Lee E, Scott CG, Kennedy AM, Pellikka PA, Lin G, Pislaru SV, Borlaug BA
Eur Heart J 2023 Dec 21;44(48):5049-5060. doi: 10.1093/eurheartj/ehad592. PMID: 37639219
Salam AM, Kaddoura R, Salih V, Asopa S
Rev Cardiovasc Med 2021 Dec 22;22(4):1185-1196. doi: 10.31083/j.rcm2204127. PMID: 34957762
Ruddox V, Sandven I, Munkhaugen J, Skattebu J, Edvardsen T, Otterstad JE
Eur J Prev Cardiol 2017 Sep;24(14):1555-1566. Epub 2017 Jun 15 doi: 10.1177/2047487317715769. PMID: 28617620Free PMC Article
Ko D, Rahman F, Schnabel RB, Yin X, Benjamin EJ, Christophersen IE
Nat Rev Cardiol 2016 Jun;13(6):321-32. Epub 2016 Apr 7 doi: 10.1038/nrcardio.2016.45. PMID: 27053455Free PMC Article
Schnabel RB, Yin X, Gona P, Larson MG, Beiser AS, McManus DD, Newton-Cheh C, Lubitz SA, Magnani JW, Ellinor PT, Seshadri S, Wolf PA, Vasan RS, Benjamin EJ, Levy D
Lancet 2015 Jul 11;386(9989):154-62. Epub 2015 May 7 doi: 10.1016/S0140-6736(14)61774-8. PMID: 25960110Free PMC Article

Clinical prediction guides

Fabritz L, Chua W, Cardoso VR, Al-Taie C, Borof K, Suling A, Krause L, Kany S, Magnussen C, Wegscheider K, Breithardt G, Crijns HJGM, Camm AJ, Gkoutos G, Ellinor PT, Goette A, Schotten U, Wienhues-Thelen UH, Zeller T, Schnabel RB, Zapf A, Kirchhof P
Cardiovasc Res 2024 Jul 2;120(8):855-868. doi: 10.1093/cvr/cvae067. PMID: 38613511Free PMC Article
Kany S, Reissmann B, Metzner A, Kirchhof P, Darbar D, Schnabel RB
Cardiovasc Res 2021 Jun 16;117(7):1718-1731. doi: 10.1093/cvr/cvab153. PMID: 33982075Free PMC Article
Perez MV, Mahaffey KW, Hedlin H, Rumsfeld JS, Garcia A, Ferris T, Balasubramanian V, Russo AM, Rajmane A, Cheung L, Hung G, Lee J, Kowey P, Talati N, Nag D, Gummidipundi SE, Beatty A, Hills MT, Desai S, Granger CB, Desai M, Turakhia MP; Apple Heart Study Investigators
N Engl J Med 2019 Nov 14;381(20):1909-1917. doi: 10.1056/NEJMoa1901183. PMID: 31722151Free PMC Article
Calenda BW, Fuster V, Halperin JL, Granger CB
Nat Rev Cardiol 2016 Sep;13(9):549-59. Epub 2016 Jul 7 doi: 10.1038/nrcardio.2016.106. PMID: 27383079
Nitta T, Ishii Y, Sakamoto S
Gen Thorac Cardiovasc Surg 2012 Jan;60(1):13-20. Epub 2012 Jan 13 doi: 10.1007/s11748-011-0849-2. PMID: 22237734

Recent systematic reviews

McIntyre WF, Benz AP, Becher N, Healey JS, Granger CB, Rivard L, Camm AJ, Goette A, Zapf A, Alings M, Connolly SJ, Kirchhof P, Lopes RD
Circulation 2024 Mar 26;149(13):981-988. Epub 2023 Nov 12 doi: 10.1161/CIRCULATIONAHA.123.067512. PMID: 37952187
Ramesh T, Lee PYK, Mitta M, Allencherril J
J Cardiol 2021 Nov;78(5):375-381. Epub 2021 Jun 20 doi: 10.1016/j.jjcc.2021.06.001. PMID: 34162502
López-López JA, Sterne JAC, Thom HHZ, Higgins JPT, Hingorani AD, Okoli GN, Davies PA, Bodalia PN, Bryden PA, Welton NJ, Hollingworth W, Caldwell DM, Savović J, Dias S, Salisbury C, Eaton D, Stephens-Boal A, Sofat R
BMJ 2017 Nov 28;359:j5058. doi: 10.1136/bmj.j5058. PMID: 29183961Free PMC Article
Ruddox V, Sandven I, Munkhaugen J, Skattebu J, Edvardsen T, Otterstad JE
Eur J Prev Cardiol 2017 Sep;24(14):1555-1566. Epub 2017 Jun 15 doi: 10.1177/2047487317715769. PMID: 28617620Free PMC Article
Samuelson BT, Cuker A, Siegal DM, Crowther M, Garcia DA
Chest 2017 Jan;151(1):127-138. Epub 2016 Sep 13 doi: 10.1016/j.chest.2016.08.1462. PMID: 27637548Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2021
      UK NICE Guideline NG196, Atrial fibrillation: diagnosis and management, 2021

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