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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.
See: Feature record | Search on this feature
Left ventricular hypertrophy
MedGen UID:
57442
•Concept ID:
C0149721
•
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
See: Feature record | Search on this feature
Left atrial enlargement
MedGen UID:
536845
•Concept ID:
C0238705
•
Finding
Increase in size of the left atrium.
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
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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

2024 European Heart Rhythm Association/Heart Rhythm Society/Asia Pacific Heart Rhythm Society/Latin American Heart Rhythm Society expert consensus statement on catheter and surgical ablation of atrial fibrillation.
Tzeis S, Gerstenfeld EP, Kalman J, Saad EB, Sepehri Shamloo A, Andrade JG, Barbhaiya CR, Baykaner T, Boveda S, Calkins H, Chan NY, Chen M, Chen SA, Dagres N, Damiano RJ, De Potter T, Deisenhofer I, Derval N, Di Biase L, Duytschaever M, Dyrda K, Hindricks G, Hocini M, Kim YH, la Meir M, Merino JL, Michaud GF, Natale A, Nault I, Nava S, Nitta T, O'Neill M, Pak HN, Piccini JP, Pürerfellner H, Reichlin T, Saenz LC, Sanders P, Schilling R, Schmidt B, Supple GE, Thomas KL, Tondo C, Verma A, Wan EY, Steven D, Agbayani MJ, Jared Bunch T, Chugh A, Díaz JC, Freeman JV, Hardy CA, Heidbuchel H, Johar S, Linz D, Maesen B, Noseworthy PA, Oh S, Porta-Sanchez A, Potpara T, Rodriguez-Diez G, Sacher F, Suwalski P, Trines SA
Europace 2024 Mar 30;26(4) doi: 10.1093/europace/euae043. PMID: 38587017Free PMC Article
Management of Arrhythmias in Cardiac Amyloidosis.
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
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

Curated

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

Recent clinical studies

Etiology

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: Pathogenesis, Predisposing Factors, and Genetics.
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
Atrial Fibrillation Burden and Clinical Outcomes in Heart Failure: The CASTLE-AF Trial.
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
Atrial Fibrillation in the ICU.
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
Atrial fibrillation and hyperthyroidism: A literature review.
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

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
Focus on subpopulations of atrial fibrillation patients.
Agewall S
Eur Heart J Cardiovasc Pharmacother 2020 Jul 1;6(3):131-132. doi: 10.1093/ehjcvp/pvaa034. PMID: 32412082
Atrial Fibrillation in the ICU.
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
Atrial fibrillation and hyperthyroidism: A literature review.
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
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

Intraoperative hypotension and postoperative outcomes: a meta-analysis of randomised trials.
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
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
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 Burden and Clinical Outcomes in Heart Failure: The CASTLE-AF Trial.
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
Effect of Catheter Ablation vs Antiarrhythmic Drug Therapy on Mortality, Stroke, Bleeding, and Cardiac Arrest Among Patients With Atrial Fibrillation: The CABANA Randomized Clinical Trial.
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

Psychological factors and risk of atrial fibrillation: A meta-analysis and systematic review.
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
Stair climbing and incident atrial fibrillation: a prospective cohort study.
Arafa A, Kokubo Y, Shimamoto K, Kashima R, Watanabe E, Sakai Y, Li J, Teramoto M, Sheerah HA, Kusano K
Environ Health Prev Med 2022;27:10. doi: 10.1265/ehpm.21-00021. PMID: 35288490Free PMC Article
Biomarkers of Atrial Fibrillation in Metabolic Syndrome.
Georgakopoulos C, Vlachopoulos C, Lazaros G, Tousoulis D
Curr Med Chem 2019;26(5):898-908. doi: 10.2174/0929867324666171012105528. PMID: 29022500
Atrial fibrillation in women: epidemiology, pathophysiology, presentation, and prognosis.
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
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

Blood-based cardiometabolic phenotypes in atrial fibrillation and their associated risk: EAST-AFNET 4 biomolecule study.
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
Accuracy of the Apple watch for detection of AF: A multicenter experience.
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
Prevalence and predictors of subclinical atrial fibrillation in hospitalized older adults.
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
An artificial intelligence-enabled ECG algorithm for the identification of patients with atrial fibrillation during sinus rhythm: a retrospective analysis of outcome prediction.
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
Bypass tracts revisited.
Asirvatham SJ, Stevenson WG
Circ Arrhythm Electrophysiol 2014 Dec;7(6):1268-70. doi: 10.1161/CIRCEP.114.002475. PMID: 25516584

Recent systematic reviews

Direct Oral Anticoagulants for Stroke Prevention in Patients With Device-Detected Atrial Fibrillation: A Study-Level Meta-Analysis of the NOAH-AFNET 6 and ARTESiA Trials.
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
Colchicine for cardiovascular medicine: a systematic review and meta-analysis.
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
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
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
Atrial fibrillation and the risk for myocardial infarction, all-cause mortality and heart failure: A systematic review and meta-analysis.
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
      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.
    • 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

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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