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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

Management of Atrial Fibrillation in 2021: An Updated Comparison of the Current CCS/CHRS, ESC, and AHA/ACC/HRS Guidelines.
Cheung CC, Nattel S, Macle L, Andrade JG
Can J Cardiol 2021 Oct;37(10):1607-1618. Epub 2021 Jun 26 doi: 10.1016/j.cjca.2021.06.011. PMID: 34186113
Postoperative atrial fibrillation: mechanisms, manifestations and management.
Dobrev D, Aguilar M, Heijman J, Guichard JB, Nattel S
Nat Rev Cardiol 2019 Jul;16(7):417-436. doi: 10.1038/s41569-019-0166-5. PMID: 30792496
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
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
Atrial fibrillation (acute onset).
Lip GY, Apostolakis S
BMJ Clin Evid 2014 Nov 27;2014 PMID: 25430048Free PMC Article

Diagnosis

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 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

Therapy

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
Randomized Ablation-Based Rhythm-Control Versus Rate-Control Trial in Patients With Heart Failure and Atrial Fibrillation: Results from the RAFT-AF trial.
Parkash R, Wells GA, Rouleau J, Talajic M, Essebag V, Skanes A, Wilton SB, Verma A, Healey JS, Sterns L, Bennett M, Roux JF, Rivard L, Leong-Sit P, Jensen-Urstad M, Jolly U, Philippon F, Sapp JL, Tang ASL
Circulation 2022 Jun 7;145(23):1693-1704. Epub 2022 Mar 22 doi: 10.1161/CIRCULATIONAHA.121.057095. PMID: 35313733
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

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
Efficacy and safety of left atrial appendage closure with WATCHMAN in patients with or without contraindication to oral anticoagulation: 1-Year follow-up outcome data of the EWOLUTION trial.
Boersma LV, Ince H, Kische S, Pokushalov E, Schmitz T, Schmidt B, Gori T, Meincke F, Protopopov AV, Betts T, Foley D, Sievert H, Mazzone P, De Potter T, Vireca E, Stein K, Bergmann MW; EWOLUTION Investigators
Heart Rhythm 2017 Sep;14(9):1302-1308. Epub 2017 May 31 doi: 10.1016/j.hrthm.2017.05.038. PMID: 28577840
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

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
Large-Scale Assessment of a Smartwatch to Identify Atrial Fibrillation.
Perez MV, Mahaffey KW, Hedlin H, Rumsfeld JS, Garcia A, Ferris T, Balasubramanian V, Russo AM, Rajmane A, Cheung L, Hung G, Lee J, Kowey P, Talati N, Nag D, Gummidipundi SE, Beatty A, Hills MT, Desai S, Granger CB, Desai M, Turakhia MP; Apple Heart Study Investigators
N Engl J Med 2019 Nov 14;381(20):1909-1917. doi: 10.1056/NEJMoa1901183. PMID: 31722151Free 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
Smartwatch Performance for the Detection and Quantification of Atrial Fibrillation.
Wasserlauf J, You C, Patel R, Valys A, Albert D, Passman R
Circ Arrhythm Electrophysiol 2019 Jun;12(6):e006834. doi: 10.1161/CIRCEP.118.006834. PMID: 31113234
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

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
Recurrent Ischemic Stroke - A Systematic Review and Meta-Analysis.
Kolmos M, Christoffersen L, Kruuse C
J Stroke Cerebrovasc Dis 2021 Aug;30(8):105935. Epub 2021 Jun 18 doi: 10.1016/j.jstrokecerebrovasdis.2021.105935. PMID: 34153594
Mobile Apps to Improve Medication Adherence in Cardiovascular Disease: Systematic Review and Meta-analysis.
Al-Arkee S, Mason J, Lane DA, Fabritz L, Chua W, Haque MS, Jalal Z
J Med Internet Res 2021 May 25;23(5):e24190. doi: 10.2196/24190. PMID: 34032583Free PMC Article
Postoperative Atrial Fibrillation After Cardiac Surgery: A Systematic Review and Meta-Analysis.
Eikelboom R, Sanjanwala R, Le ML, Yamashita MH, Arora RC
Ann Thorac Surg 2021 Feb;111(2):544-554. Epub 2020 Jul 17 doi: 10.1016/j.athoracsur.2020.05.104. PMID: 32687821
Atrial fibrillation (acute onset).
Lip GY, Apostolakis S
BMJ Clin Evid 2014 Nov 27;2014 PMID: 25430048Free 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
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      Related literature resources in PubMed
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      Related literature resources in PubMed

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