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Atrial fibrillation, familial, 6(ATFB6)

MedGen UID:
394252
Concept ID:
C2677294
Disease or Syndrome
Synonym: ATFB6
 
Gene (location): NPPA (1p36.22)
 
Monarch Initiative: MONDO:0012816
OMIM®: 612201

Definition

Atrial fibrillation (AF) 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 atrial fibrillation, see 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
Atrial fibrillation
MedGen UID:
445
Concept ID:
C0004238
Finding
An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
Left atrial enlargement
MedGen UID:
536845
Concept ID:
C0238705
Finding
Increase in size of the left atrium.
Reduced left ventricular ejection fraction
MedGen UID:
868398
Concept ID:
C4022792
Finding
A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.
Elevated left ventricular end-diastolic diameter
MedGen UID:
1815064
Concept ID:
C5706158
Finding
The LV end-diastolic internal diameter was measured from two-dimensional (2D) images in the parasternal long-axis view, timed with mitral valve closure at the level of the mitral valve chordae.

Professional guidelines

PubMed

Giancaterino S, Urey MA, Darden D, Hsu JC
JACC Clin Electrophysiol 2020 Apr;6(4):351-361. doi: 10.1016/j.jacep.2020.01.004. PMID: 32327068
Arnett DK, Blumenthal RS, Albert MA, Buroker AB, Goldberger ZD, Hahn EJ, Himmelfarb CD, Khera A, Lloyd-Jones D, McEvoy JW, Michos ED, Miedema MD, Muñoz D, Smith SC Jr, Virani SS, Williams KA Sr, Yeboah J, Ziaeian B
Circulation 2019 Sep 10;140(11):e563-e595. Epub 2019 Mar 17 doi: 10.1161/CIR.0000000000000677. PMID: 30879339Free PMC Article
Gutierrez C, Blanchard DG
Am Fam Physician 2016 Sep 15;94(6):442-52. PMID: 27637120

Curated

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

Recent clinical studies

Etiology

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
Sagris M, Vardas EP, Theofilis P, Antonopoulos AS, Oikonomou E, Tousoulis D
Int J Mol Sci 2021 Dec 21;23(1) doi: 10.3390/ijms23010006. PMID: 35008432Free PMC Article
Brachmann J, Sohns C, Andresen D, Siebels J, Sehner S, Boersma L, Merkely B, Pokushalov E, Sanders P, Schunkert H, Bänsch D, Dagher L, Zhao Y, Mahnkopf C, Wegscheider K, Marrouche NF
JACC Clin Electrophysiol 2021 May;7(5):594-603. Epub 2021 Feb 24 doi: 10.1016/j.jacep.2020.11.021. PMID: 33640355
Bosch NA, Cimini J, Walkey AJ
Chest 2018 Dec;154(6):1424-1434. Epub 2018 Apr 6 doi: 10.1016/j.chest.2018.03.040. PMID: 29627355Free PMC Article
Reddy V, Taha W, Kundumadam S, Khan M
Indian Heart J 2017 Jul-Aug;69(4):545-550. Epub 2017 Jul 5 doi: 10.1016/j.ihj.2017.07.004. PMID: 28822529Free PMC Article

Diagnosis

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
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
Bosch NA, Cimini J, Walkey AJ
Chest 2018 Dec;154(6):1424-1434. Epub 2018 Apr 6 doi: 10.1016/j.chest.2018.03.040. PMID: 29627355Free PMC Article
Reddy V, Taha W, Kundumadam S, Khan M
Indian Heart J 2017 Jul-Aug;69(4):545-550. Epub 2017 Jul 5 doi: 10.1016/j.ihj.2017.07.004. PMID: 28822529Free PMC Article
Go AS, Hylek EM, Phillips KA, Chang Y, Henault LE, Selby JV, Singer DE
JAMA 2001 May 9;285(18):2370-5. doi: 10.1001/jama.285.18.2370. PMID: 11343485

Therapy

Al-Kaisey AM, Parameswaran R, Bryant C, Anderson RD, Hawson J, Chieng D, Segan L, Voskoboinik A, Sugumar H, Wong GR, Finch S, Joseph SA, McLellan A, Ling LH, Morton J, Sparks P, Sanders P, Lee G, Kistler PM, Kalman JM
JAMA 2023 Sep 12;330(10):925-933. doi: 10.1001/jama.2023.14685. PMID: 37698564Free PMC Article
Harrington J, Carnicelli AP, Hua K, Wallentin L, Patel MR, Hohnloser SH, Giugliano RP, Fox KAA, Hijazi Z, Lopes RD, Pokorney SD, Hong H, Granger CB
Circulation 2023 Jun 6;147(23):1748-1757. Epub 2023 Apr 12 doi: 10.1161/CIRCULATIONAHA.122.062752. PMID: 37042255Free 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
Brachmann J, Sohns C, Andresen D, Siebels J, Sehner S, Boersma L, Merkely B, Pokushalov E, Sanders P, Schunkert H, Bänsch D, Dagher L, Zhao Y, Mahnkopf C, Wegscheider K, Marrouche NF
JACC Clin Electrophysiol 2021 May;7(5):594-603. Epub 2021 Feb 24 doi: 10.1016/j.jacep.2020.11.021. PMID: 33640355
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

Prognosis

Wu H, Li C, Li B, Zheng T, Feng K, Wu Y
Int J Cardiol 2022 Sep 1;362:85-92. Epub 2022 May 23 doi: 10.1016/j.ijcard.2022.05.048. PMID: 35618103
Georgakopoulos C, Vlachopoulos C, Lazaros G, Tousoulis D
Curr Med Chem 2019;26(5):898-908. doi: 10.2174/0929867324666171012105528. PMID: 29022500
Kirchhof P, Blank BF, Calvert M, Camm AJ, Chlouverakis G, Diener HC, Goette A, Huening A, Lip GYH, Simantirakis E, Vardas P
Am Heart J 2017 Aug;190:12-18. Epub 2017 May 3 doi: 10.1016/j.ahj.2017.04.015. PMID: 28760205Free 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

Wasserlauf J, Vogel K, Whisler C, Benjamin E, Helm R, Steinhaus DA, Yousuf O, Passman RS
J Cardiovasc Electrophysiol 2023 May;34(5):1103-1107. Epub 2023 Mar 30 doi: 10.1111/jce.15892. PMID: 36942773
Spannella F, Giulietti F, Pimpini L, Lombardi FE, Re S, Schiavi P, Dragano G, Antonicelli R, Sarzani R
Aging (Albany NY) 2021 Jul 1;13(13):17024-17037. doi: 10.18632/aging.203270. PMID: 34198265Free PMC Article
Poorthuis MHF, Jones NR, Sherliker P, Clack R, de Borst GJ, Clarke R, Lewington S, Halliday A, Bulbulia R
Eur J Prev Cardiol 2021 May 22;28(6):586-595. doi: 10.1093/eurjpc/zwaa082. PMID: 33624100Free PMC Article
Attia ZI, Noseworthy PA, Lopez-Jimenez F, Asirvatham SJ, Deshmukh AJ, Gersh BJ, Carter RE, Yao X, Rabinstein AA, Erickson BJ, Kapa S, Friedman PA
Lancet 2019 Sep 7;394(10201):861-867. Epub 2019 Aug 1 doi: 10.1016/S0140-6736(19)31721-0. PMID: 31378392
Asirvatham SJ, Stevenson WG
Circ Arrhythm Electrophysiol 2014 Dec;7(6):1268-70. doi: 10.1161/CIRCEP.114.002475. PMID: 25516584

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
Casula M, Andreis A, Avondo S, Vaira MP, Imazio M
Future Cardiol 2022 Aug;18(8):647-659. Epub 2022 Jul 5 doi: 10.2217/fca-2020-0206. PMID: 35787150
Gencer B, Djousse L, Al-Ramady OT, Cook NR, Manson JE, Albert CM
Circulation 2021 Dec 21;144(25):1981-1990. Epub 2021 Oct 6 doi: 10.1161/CIRCULATIONAHA.121.055654. PMID: 34612056Free PMC Article
Baumgartner C, da Costa BR, Collet TH, Feller M, Floriani C, Bauer DC, Cappola AR, Heckbert SR, Ceresini G, Gussekloo J, den Elzen WPJ, Peeters RP, Luben R, Völzke H, Dörr M, Walsh JP, Bremner A, Iacoviello M, Macfarlane P, Heeringa J, Stott DJ, Westendorp RGJ, Khaw KT, Magnani JW, Aujesky D, Rodondi N; Thyroid Studies Collaboration
Circulation 2017 Nov 28;136(22):2100-2116. Epub 2017 Oct 23 doi: 10.1161/CIRCULATIONAHA.117.028753. PMID: 29061566Free 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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
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    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. 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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