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Atrial fibrillation, familial, 7(ATFB7)

MedGen UID:
393658
•Concept ID:
C2677106
•
Disease or Syndrome
Synonyms: ATFB7; KCNA5-Related Familial Atrial Fibrillation
 
Gene (location): KCNA5 (12p13.32)
 
Monarch Initiative: MONDO:0012828
OMIM®: 612240

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
Palpitations
MedGen UID:
14579
•Concept ID:
C0030252
•
Finding
A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.
See: Feature record | Search on this feature
Premature atrial contractions
MedGen UID:
19455
•Concept ID:
C0033036
•
Disease or Syndrome
A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites.
See: Feature record | Search on this feature
Sinus bradycardia
MedGen UID:
39316
•Concept ID:
C0085610
•
Pathologic Function
Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Prolonged PR interval
MedGen UID:
154645
•Concept ID:
C0600125
•
Finding
Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).
See: Feature record | Search on this feature
Prolonged QTc interval
MedGen UID:
294666
•Concept ID:
C1560305
•
Pathologic Function
A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.
See: Feature record | Search on this feature
Permanent atrial fibrillation
MedGen UID:
750308
•Concept ID:
C2586056
•
Pathologic Function
Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.
See: Feature record | Search on this feature

Professional guidelines

PubMed

International Consensus Statement on Obstructive Sleep Apnea.
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
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
Clinical Course and Management of Hypertrophic Cardiomyopathy.
Maron BJ
N Engl J Med 2018 Aug 16;379(7):655-668. doi: 10.1056/NEJMra1710575. PMID: 30110588

Curated

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

Recent clinical studies

Etiology

Atrial Fibrillation.
Al-Khatib SM
Ann Intern Med 2023 Jul;176(7):ITC97-ITC112. Epub 2023 Jul 11 doi: 10.7326/AITC202307180. PMID: 37429028
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
Cryoballoon or Radiofrequency Ablation for Atrial Fibrillation Assessed by Continuous Monitoring: A Randomized Clinical Trial.
Andrade JG, Champagne J, Dubuc M, Deyell MW, Verma A, Macle L, Leong-Sit P, Novak P, Badra-Verdu M, Sapp J, Mangat I, Khoo C, Steinberg C, Bennett MT, Tang ASL, Khairy P; CIRCA-DOSE Study Investigators
Circulation 2019 Nov 26;140(22):1779-1788. Epub 2019 Oct 21 doi: 10.1161/CIRCULATIONAHA.119.042622. PMID: 31630538
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
Atrial fibrillation and stroke prevention.
Lewis BS
Eur Heart J Cardiovasc Pharmacother 2021 Apr 9;7(FI1):f1-f2. doi: 10.1093/ehjcvp/pvab023. PMID: 33836529
Atrial fibrillation-a complex polygenetic disease.
Andersen JH, Andreasen L, Olesen MS
Eur J Hum Genet 2021 Jul;29(7):1051-1060. Epub 2020 Dec 5 doi: 10.1038/s41431-020-00784-8. PMID: 33279945Free 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
Silent Atrial Fibrillation and Cryptogenic Strokes.
Dalen JE, Alpert JS
Am J Med 2017 Mar;130(3):264-267. Epub 2016 Oct 15 doi: 10.1016/j.amjmed.2016.09.027. PMID: 27756556

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
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
Ablation Versus Drug Therapy for Atrial Fibrillation in Heart Failure: Results From the CABANA Trial.
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
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

Atrial electrofunctional predictors of incident atrial fibrillation in cardiac amyloidosis.
Sinigiani G, De Michieli L, Porcari A, Zocchi C, Sorella A, Mazzoni C, Bisaccia G, De Luca A, Di Bella G, Gregori D, Perfetto F, Merlo M, Sinagra G, Iliceto S, Perazzolo Marra M, Corrado D, Ricci F, Cappelli F, Cipriani A
Heart Rhythm 2024 Jun;21(6):725-732. Epub 2024 Feb 2 doi: 10.1016/j.hrthm.2024.01.056. PMID: 38309449
Epigenetic Age and the Risk of Incident Atrial Fibrillation.
Roberts JD, Vittinghoff E, Lu AT, Alonso A, Wang B, Sitlani CM, Mohammadi-Shemirani P, Fornage M, Kornej J, Brody JA, Arking DE, Lin H, Heckbert SR, Prokic I, Ghanbari M, Skanes AC, Bartz TM, Perez MV, Taylor KD, Lubitz SA, Ellinor PT, Lunetta KL, Pankow JS, Paré G, Sotoodehnia N, Benjamin EJ, Horvath S, Marcus GM
Circulation 2021 Dec 14;144(24):1899-1911. Epub 2021 Sep 30 doi: 10.1161/CIRCULATIONAHA.121.056456. PMID: 34587750Free PMC Article
Genetics of atrial fibrillation-practical applications for clinical management: if not now, when and how?
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
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
Refining clinical risk stratification for predicting stroke and thromboembolism in atrial fibrillation using a novel risk factor-based approach: the euro heart survey on atrial fibrillation.
Lip GY, Nieuwlaat R, Pisters R, Lane DA, Crijns HJ
Chest 2010 Feb;137(2):263-72. Epub 2009 Sep 17 doi: 10.1378/chest.09-1584. PMID: 19762550

Clinical prediction guides

Genetics of atrial fibrillation-practical applications for clinical management: if not now, when and how?
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
How useful is the smartwatch ECG?
Isakadze N, Martin SS
Trends Cardiovasc Med 2020 Oct;30(7):442-448. Epub 2019 Oct 31 doi: 10.1016/j.tcm.2019.10.010. PMID: 31706789
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
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
The left atrial appendage: anatomy, function, and noninvasive evaluation.
Beigel R, Wunderlich NC, Ho SY, Arsanjani R, Siegel RJ
JACC Cardiovasc Imaging 2014 Dec;7(12):1251-65. doi: 10.1016/j.jcmg.2014.08.009. PMID: 25496544

Recent systematic reviews

Catheter Ablation is Superior to Antiarrhythmic Drugs as First-Line Treatment for Atrial Fibrillation: a Systematic Review and Meta-Analysis.
Cardoso R, Justino GB, Graffunder FP, Benevides L, Knijnik L, Sanchez LMF, d'Avila A
Arq Bras Cardiol 2022 Jul;119(1):87-94. doi: 10.36660/abc.20210477. PMID: 35830118Free PMC Article
Cardioneuroablation for vasovagal syncope: A systematic review and meta-analysis.
Vandenberk B, Lei LY, Ballantyne B, Vickers D, Liang Z, Sheldon RS, Chew DS, Aksu T, Raj SR, Morillo CA
Heart Rhythm 2022 Nov;19(11):1804-1812. Epub 2022 Jun 16 doi: 10.1016/j.hrthm.2022.06.017. PMID: 35716859
Frailty prevalence and impact on outcomes in patients with atrial fibrillation: A systematic review and meta-analysis of 1,187,000 patients.
Proietti M, Romiti GF, Raparelli V, Diemberger I, Boriani G, Dalla Vecchia LA, Bellelli G, Marzetti E, Lip GY, Cesari M
Ageing Res Rev 2022 Aug;79:101652. Epub 2022 May 31 doi: 10.1016/j.arr.2022.101652. PMID: 35659945
Beta-blockers for the treatment of arrhythmias: Bisoprolol - a systematic review.
Muresan L, Cismaru G, Muresan C, Rosu R, Gusetu G, Puiu M, Mada RO, Martins RP
Ann Pharm Fr 2022 Sep;80(5):617-634. Epub 2022 Jan 31 doi: 10.1016/j.pharma.2022.01.007. PMID: 35093388
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
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      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
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      Related literature resources in PubMed

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