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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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

2019 ACC/AHA Guideline on the Primary Prevention of Cardiovascular Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
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
2019 ACC/AHA Guideline on the Primary Prevention of Cardiovascular Disease: Executive Summary: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
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
2016 ESC Guidelines for the management of atrial fibrillation developed in collaboration with EACTS.
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

Electrocardiographic Predictors of Atrial Fibrillation.
Chousou PA, Chattopadhyay R, Tsampasian V, Vassiliou VS, Pugh PJ
Med Sci (Basel) 2023 Apr 7;11(2) doi: 10.3390/medsci11020030. PMID: 37092499Free PMC Article
Artificial intelligence-guided screening for atrial fibrillation using electrocardiogram during sinus rhythm: a prospective non-randomised interventional trial.
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
Stroke Prevention in Atrial Fibrillation.
Gao X, Passman R
Curr Cardiol Rep 2022 Nov;24(11):1765-1774. Epub 2022 Sep 22 doi: 10.1007/s11886-022-01787-1. PMID: 36136225
Atrial Fibrillation Genomics: Discovery and Translation.
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
Prevalence of diagnosed atrial fibrillation in adults: national implications for rhythm management and stroke prevention: the AnTicoagulation and Risk Factors in Atrial Fibrillation (ATRIA) Study.
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

Diagnosis

Electrocardiographic Predictors of Atrial Fibrillation.
Chousou PA, Chattopadhyay R, Tsampasian V, Vassiliou VS, Pugh PJ
Med Sci (Basel) 2023 Apr 7;11(2) doi: 10.3390/medsci11020030. PMID: 37092499Free PMC Article
Artificial intelligence-guided screening for atrial fibrillation using electrocardiogram during sinus rhythm: a prospective non-randomised interventional trial.
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
Atrial Fibrillation Genomics: Discovery and Translation.
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
New Findings in Atrial Fibrillation Mechanisms.
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
Prevalence of diagnosed atrial fibrillation in adults: national implications for rhythm management and stroke prevention: the AnTicoagulation and Risk Factors in Atrial Fibrillation (ATRIA) Study.
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

Atrial Fibrillation Catheter Ablation vs Medical Therapy and Psychological Distress: A Randomized Clinical Trial.
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
Development and Validation of the DOAC Score: A Novel Bleeding Risk Prediction Tool for Patients With Atrial Fibrillation on Direct-Acting Oral Anticoagulants.
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
Artificial intelligence-guided screening for atrial fibrillation using electrocardiogram during sinus rhythm: a prospective non-randomised interventional trial.
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
Oral anticoagulants for prevention of stroke in atrial fibrillation: systematic review, network meta-analysis, and cost effectiveness analysis.
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
The BRIDGE trial: What the hospitalist should know.
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

Acquired risk factors and incident atrial fibrillation according to age and genetic predisposition.
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
Incidence, risk factors, and mortality of atrial fibrillation in breast cancer: a SEER-Medicare analysis.
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
Smoking and risk of atrial fibrillation.
Watanabe I
J Cardiol 2018 Feb;71(2):111-112. Epub 2017 Sep 14 doi: 10.1016/j.jjcc.2017.08.001. PMID: 28918306
Prognosis in Familial Atrial Fibrillation.
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
50 year trends in atrial fibrillation prevalence, incidence, risk factors, and mortality in the Framingham Heart Study: a cohort study.
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

Post-cardiotomy pericardial effusion and postoperative atrial fibrillation risk.
Kikuchi Y, Saijo Y, Narita M, Shibagaki K, Okubo R, Kunioka S, Shirasaka T, Kamiya H
Int J Cardiovasc Imaging 2022 Aug;38(8):1873-1879. Epub 2022 Mar 30 doi: 10.1007/s10554-022-02560-9. PMID: 37726512
Atrial Fibrillation Genomics: Discovery and Translation.
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
Heartbeat: Diagnosis of subclinical atrial fibrillation by physicians and patients.
Otto CM
Heart 2019 Jun;105(11):809-811. doi: 10.1136/heartjnl-2019-315232. PMID: 31092678
Is echocardiography valid and reproducible in patients with atrial fibrillation? A systematic review.
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
Head-Up Tilt.
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

Pacing-induced cardiomyopathy: A systematic review and meta-analysis of definition, prevalence, risk factors, and management.
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
A systematic review of the efficacy and safety of anticoagulants in advanced chronic kidney disease.
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
Effect of Long-Term Marine ɷ-3 Fatty Acids Supplementation on the Risk of Atrial Fibrillation in Randomized Controlled Trials of Cardiovascular Outcomes: A Systematic Review and Meta-Analysis.
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
Oral anticoagulants for prevention of stroke in atrial fibrillation: systematic review, network meta-analysis, and cost effectiveness analysis.
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
Thyroid Function Within the Normal Range, Subclinical Hypothyroidism, and the Risk of Atrial Fibrillation.
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

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed (OMIM)
      Related literature resources in PubMed

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