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Atrial fibrillation, familial, 11(ATFB11)

MedGen UID:
481323
Concept ID:
C3279693
Disease or Syndrome
Synonyms: ATFB11; GJA5-Related Familial Atrial Fibrillation
 
Gene (location): GJA5 (1q21.2)
 
Monarch Initiative: MONDO:0013544
OMIM®: 614049

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
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.
Prolonged QRS complex
MedGen UID:
489828
Concept ID:
C0235475
Finding
Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec.
Prolonged P wave
MedGen UID:
606917
Concept ID:
C0429022
Finding
Abnormal increased in the duration of the P wave, which is a marker of delayed inter-atrial conduction.
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.

Professional guidelines

PubMed

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):e596-e646. Epub 2019 Mar 17 doi: 10.1161/CIR.0000000000000678. PMID: 30879355Free PMC Article
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
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

Zhang J, Chen G, Xia H, Wang X, Wang C, Cai M, Gao Y, Lip GYH, Lin H
J Hazard Mater 2023 Oct 5;459:132114. Epub 2023 Jul 22 doi: 10.1016/j.jhazmat.2023.132114. PMID: 37494795
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
Yoo DH, Bodmer R, Ocorr K, Larson CJ, Colas AR, Muse ED
Curr Cardiol Rep 2021 Oct 1;23(11):164. doi: 10.1007/s11886-021-01597-x. PMID: 34599422
Chinta V, Askandar S, Nanda A, Sharma A, Abader P, Kabra R, Khouzam RN
Curr Probl Cardiol 2019 Nov;44(11):100386. Epub 2018 Jul 11 doi: 10.1016/j.cpcardiol.2018.07.001. PMID: 30193747
Fauchier L, Bisson A, Clementy N
J Am Heart Assoc 2016 Nov 19;5(11) doi: 10.1161/JAHA.116.004905. PMID: 27866163Free PMC Article

Diagnosis

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
Yoo DH, Bodmer R, Ocorr K, Larson CJ, Colas AR, Muse ED
Curr Cardiol Rep 2021 Oct 1;23(11):164. doi: 10.1007/s11886-021-01597-x. PMID: 34599422
Lau DH, Linz D, Sanders P
Card Electrophysiol Clin 2019 Dec;11(4):563-571. doi: 10.1016/j.ccep.2019.08.007. PMID: 31706465
De Ponti R, My I, Vilotta M, Caravati F, Marazzato J, Bagliani G, Leonelli FM
Card Electrophysiol Clin 2019 Jun;11(2):203-217. Epub 2019 Apr 4 doi: 10.1016/j.ccep.2019.01.005. PMID: 31084847
Goudis CA, Vasileiadis IE, Liu T
Curr Med Res Opin 2018 Nov;34(11):1933-1943. Epub 2018 May 3 doi: 10.1080/03007995.2018.1462786. PMID: 29625530

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
Aggarwal R, Ruff CT, Virdone S, Perreault S, Kakkar AK, Palazzolo MG, Dorais M, Kayani G, Singer DE, Secemsky E, Piccini J, Tahir UA, Shen C, Yeh RW
Circulation 2023 Sep 19;148(12):936-946. Epub 2023 Aug 25 doi: 10.1161/CIRCULATIONAHA.123.064556. PMID: 37621213Free PMC Article
Packer DL, Piccini JP, Monahan KH, Al-Khalidi HR, Silverstein AP, Noseworthy PA, Poole JE, Bahnson TD, Lee KL, Mark DB; CABANA Investigators
Circulation 2021 Apr 6;143(14):1377-1390. Epub 2021 Feb 8 doi: 10.1161/CIRCULATIONAHA.120.050991. PMID: 33554614Free 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
Nazha B, Spyropoulos AC
J Hosp Med 2016 Sep;11(9):652-7. Epub 2016 Apr 21 doi: 10.1002/jhm.2594. PMID: 27098835

Prognosis

Wang N, Yu Y, Sun Y, Zhang H, Wang Y, Chen C, Tan X, Wang B, Lu Y
Eur Heart J 2023 Dec 14;44(47):4982-4993. doi: 10.1093/eurheartj/ehad615. PMID: 37723974Free PMC Article
Guha A, Fradley MG, Dent SF, Weintraub NL, Lustberg MB, Alonso A, Addison D
Eur Heart J 2022 Jan 31;43(4):300-312. doi: 10.1093/eurheartj/ehab745. PMID: 34791123Free PMC Article
Watanabe I
J Cardiol 2018 Feb;71(2):111-112. Epub 2017 Sep 14 doi: 10.1016/j.jjcc.2017.08.001. PMID: 28918306
Fauchier L, Bisson A, Clementy N
J Am Heart Assoc 2016 Nov 19;5(11) doi: 10.1161/JAHA.116.004905. PMID: 27866163Free 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

Peng X, Li Y, Liu N, Xia S, Li X, Lai Y, He L, Sang C, Dong J, Ma C
Circ Arrhythm Electrophysiol 2024 Oct;17(10):e013037. Epub 2024 Oct 2 doi: 10.1161/CIRCEP.124.013037. PMID: 39355913
Yoo DH, Bodmer R, Ocorr K, Larson CJ, Colas AR, Muse ED
Curr Cardiol Rep 2021 Oct 1;23(11):164. doi: 10.1007/s11886-021-01597-x. PMID: 34599422
Butters A, Isbister JC, Medi C, Raju H, Turner C, Sy RW, Semsarian C, Ingles J
J Cardiovasc Electrophysiol 2020 Feb;31(2):465-473. Epub 2020 Jan 16 doi: 10.1111/jce.14346. PMID: 31930598
Kotecha D, Mohamed M, Shantsila E, Popescu BA, Steeds RP
Europace 2017 Sep 1;19(9):1427-1438. doi: 10.1093/europace/eux027. PMID: 28387802Free PMC Article
Xu J, Yang L, Zhang Q, Li S, Qiao Z, Fang Y, Zhao G, Wang Q, Liu G
Int Heart J 2015;56(5):500-4. Epub 2015 Sep 11 doi: 10.1536/ihj.15-039. PMID: 26370369

Recent systematic reviews

Somma V, Ha FJ, Palmer S, Mohamed U, Agarwal S
Heart Rhythm 2023 Feb;20(2):282-290. Epub 2022 Nov 7 doi: 10.1016/j.hrthm.2022.09.019. PMID: 36356656
Parker K, Hartemink J, Saha A, Mitra R, Lewis P, Power A, Choudhuri S, Mitra S, Thachil J
J Nephrol 2022 Nov;35(8):2015-2033. Epub 2022 Aug 25 doi: 10.1007/s40620-022-01413-x. PMID: 36006608Free PMC Article
Monticone S, D'Ascenzo F, Moretti C, Williams TA, Veglio F, Gaita F, Mulatero P
Lancet Diabetes Endocrinol 2018 Jan;6(1):41-50. Epub 2017 Nov 9 doi: 10.1016/S2213-8587(17)30319-4. PMID: 29129575
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
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

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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