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Atrial fibrillation, familial, 3(ATFB3)

MedGen UID:
373232
•Concept ID:
C1837014
•
Disease or Syndrome
Synonyms: ATFB3; KCNQ1-Related Familial Atrial Fibrillation
 
Gene (location): KCNQ1 (11p15.5-15.4)
 
Monarch Initiative: MONDO:0011857
OMIM®: 607554

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
Sudden cardiac death
MedGen UID:
38841
•Concept ID:
C0085298
•
Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
See: Feature record | Search on this feature
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
Syncope
MedGen UID:
21443
•Concept ID:
C0039070
•
Sign or Symptom
Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
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 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
Thromboembolic stroke
MedGen UID:
488954
•Concept ID:
C1112433
•
Disease or Syndrome
A cerebrovascular accident (stroke) that occurs because of thromboembolism.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

2023 ACC/AHA/ACCP/HRS Guideline for the Diagnosis and Management of Atrial Fibrillation: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.
Joglar JA, Chung MK, Armbruster AL, Benjamin EJ, Chyou JY, Cronin EM, Deswal A, Eckhardt LL, Goldberger ZD, Gopinathannair R, Gorenek B, Hess PL, Hlatky M, Hogan G, Ibeh C, Indik JH, Kido K, Kusumoto F, Link MS, Linta KT, Marcus GM, McCarthy PM, Patel N, Patton KK, Perez MV, Piccini JP, Russo AM, Sanders P, Streur MM, Thomas KL, Times S, Tisdale JE, Valente AM, Van Wagoner DR; Peer Review Committee Members
Circulation 2024 Jan 2;149(1):e1-e156. Epub 2023 Nov 30 doi: 10.1161/CIR.0000000000001193. PMID: 38033089Free PMC Article
Perioperative Management of Antithrombotic Therapy: An American College of Chest Physicians Clinical Practice Guideline.
Douketis JD, Spyropoulos AC, Murad MH, Arcelus JI, Dager WE, Dunn AS, Fargo RA, Levy JH, Samama CM, Shah SH, Sherwood MW, Tafur AJ, Tang LV, Moores LK
Chest 2022 Nov;162(5):e207-e243. Epub 2022 Aug 11 doi: 10.1016/j.chest.2022.07.025. PMID: 35964704
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

2023 ACC/AHA/ACCP/HRS Guideline for the Diagnosis and Management of Atrial Fibrillation: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.
Writing Committee Members, Joglar JA, Chung MK, Armbruster AL, Benjamin EJ, Chyou JY, Cronin EM, Deswal A, Eckhardt LL, Goldberger ZD, Gopinathannair R, Gorenek B, Hess PL, Hlatky M, Hogan G, Ibeh C, Indik JH, Kido K, Kusumoto F, Link MS, Linta KT, Marcus GM, McCarthy PM, Patel N, Patton KK, Perez MV, Piccini JP, Russo AM, Sanders P, Streur MM, Thomas KL, Times S, Tisdale JE, Valente AM, Van Wagoner DR
J Am Coll Cardiol 2024 Jan 2;83(1):109-279. Epub 2023 Nov 30 doi: 10.1016/j.jacc.2023.08.017. PMID: 38043043Free PMC Article
2023 ACC/AHA/ACCP/HRS Guideline for the Diagnosis and Management of Atrial Fibrillation: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.
Joglar JA, Chung MK, Armbruster AL, Benjamin EJ, Chyou JY, Cronin EM, Deswal A, Eckhardt LL, Goldberger ZD, Gopinathannair R, Gorenek B, Hess PL, Hlatky M, Hogan G, Ibeh C, Indik JH, Kido K, Kusumoto F, Link MS, Linta KT, Marcus GM, McCarthy PM, Patel N, Patton KK, Perez MV, Piccini JP, Russo AM, Sanders P, Streur MM, Thomas KL, Times S, Tisdale JE, Valente AM, Van Wagoner DR; Peer Review Committee Members
Circulation 2024 Jan 2;149(1):e1-e156. Epub 2023 Nov 30 doi: 10.1161/CIR.0000000000001193. PMID: 38033089Free PMC Article
Omega-3 fatty acids and atrial fibrillation.
Huh JH, Jo SH
Korean J Intern Med 2023 May;38(3):282-289. Epub 2022 Dec 14 doi: 10.3904/kjim.2022.266. PMID: 36514212Free PMC Article
Atrial fibrillation and stroke: A review and new insights.
Escudero-Martínez I, Morales-Caba L, Segura T
Trends Cardiovasc Med 2023 Jan;33(1):23-29. Epub 2021 Dec 7 doi: 10.1016/j.tcm.2021.12.001. PMID: 34890796
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

2023 ACC/AHA/ACCP/HRS Guideline for the Diagnosis and Management of Atrial Fibrillation: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.
Writing Committee Members, Joglar JA, Chung MK, Armbruster AL, Benjamin EJ, Chyou JY, Cronin EM, Deswal A, Eckhardt LL, Goldberger ZD, Gopinathannair R, Gorenek B, Hess PL, Hlatky M, Hogan G, Ibeh C, Indik JH, Kido K, Kusumoto F, Link MS, Linta KT, Marcus GM, McCarthy PM, Patel N, Patton KK, Perez MV, Piccini JP, Russo AM, Sanders P, Streur MM, Thomas KL, Times S, Tisdale JE, Valente AM, Van Wagoner DR
J Am Coll Cardiol 2024 Jan 2;83(1):109-279. Epub 2023 Nov 30 doi: 10.1016/j.jacc.2023.08.017. PMID: 38043043Free PMC Article
2023 ACC/AHA/ACCP/HRS Guideline for the Diagnosis and Management of Atrial Fibrillation: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.
Joglar JA, Chung MK, Armbruster AL, Benjamin EJ, Chyou JY, Cronin EM, Deswal A, Eckhardt LL, Goldberger ZD, Gopinathannair R, Gorenek B, Hess PL, Hlatky M, Hogan G, Ibeh C, Indik JH, Kido K, Kusumoto F, Link MS, Linta KT, Marcus GM, McCarthy PM, Patel N, Patton KK, Perez MV, Piccini JP, Russo AM, Sanders P, Streur MM, Thomas KL, Times S, Tisdale JE, Valente AM, Van Wagoner DR; Peer Review Committee Members
Circulation 2024 Jan 2;149(1):e1-e156. Epub 2023 Nov 30 doi: 10.1161/CIR.0000000000001193. PMID: 38033089Free PMC Article
Omega-3 fatty acids and atrial fibrillation.
Huh JH, Jo SH
Korean J Intern Med 2023 May;38(3):282-289. Epub 2022 Dec 14 doi: 10.3904/kjim.2022.266. PMID: 36514212Free PMC Article
Atrial fibrillation and stroke: A review and new insights.
Escudero-Martínez I, Morales-Caba L, Segura T
Trends Cardiovasc Med 2023 Jan;33(1):23-29. Epub 2021 Dec 7 doi: 10.1016/j.tcm.2021.12.001. PMID: 34890796
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

Therapy

When Direct Oral Anticoagulants Should Not Be Standard Treatment: JACC State-of-the-Art Review.
Bejjani A, Khairani CD, Assi A, Piazza G, Sadeghipour P, Talasaz AH, Fanikos J, Connors JM, Siegal DM, Barnes GD, Martin KA, Angiolillo DJ, Kleindorfer D, Monreal M, Jimenez D, Middeldorp S, Elkind MSV, Ruff CT, Goldhaber SZ, Krumholz HM, Mehran R, Cushman M, Eikelboom JW, Lip GYH, Weitz JI, Lopes RD, Bikdeli B
J Am Coll Cardiol 2024 Jan 23;83(3):444-465. doi: 10.1016/j.jacc.2023.10.038. PMID: 38233019
Atrial Fibrillation Detection and Management in Hypertension.
Gawałko M, Linz D
Hypertension 2023 Mar;80(3):523-533. Epub 2022 Dec 15 doi: 10.1161/HYPERTENSIONAHA.122.19459. PMID: 36519436
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
Cardioembolic Stroke.
Kamel H, Healey JS
Circ Res 2017 Feb 3;120(3):514-526. doi: 10.1161/CIRCRESAHA.116.308407. PMID: 28154101Free PMC Article

Prognosis

In-hospital outcomes and postdischarge mortality in patients with acute coronary syndrome and atrial fibrillation.
Saleh M, Coleman K, Fishbein J, Gandomi A, Yang B, Kossack A, Varrias D, Jauhar R, Lasic Z, Kim M, Mihelis E, Ismail H, Sugeng L, Singh V, Epstein LM, Kuvin J, Mountantonakis SE
Heart Rhythm 2024 Sep;21(9):1658-1668. Epub 2024 May 30 doi: 10.1016/j.hrthm.2024.05.045. PMID: 38823670
Prognosis of patients in end-stage heart failure with atrial fibrillation treated with ablation: Insights from CASTLE-HTx.
Moersdorf M, Tijssen JGP, Marrouche NF, Crijns HJGM, Costard-Jaeckle A, Bergau L, Hindricks G, Dagres N, Sossalla S, Schramm R, Fox H, Fink T, El Hamriti M, Sciacca V, Konietschke F, Rudolph V, Gummert J, Sommer P, Sohns C; CASTLE HTx Investigators
Heart Rhythm 2024 Jul;21(7):1008-1015. Epub 2024 Apr 9 doi: 10.1016/j.hrthm.2024.04.013. PMID: 38604590
Omega-3 fatty acids and atrial fibrillation.
Huh JH, Jo SH
Korean J Intern Med 2023 May;38(3):282-289. Epub 2022 Dec 14 doi: 10.3904/kjim.2022.266. PMID: 36514212Free PMC Article
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
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

Episode-level and clinical characterization of asymptomatic atrial fibrillation events.
Ahluwalia N, Majumder S, Koehler J, Landman S, Sarkar S, Schilling RJ
J Cardiovasc Electrophysiol 2024 Dec;35(12):2273-2279. Epub 2024 Sep 4 doi: 10.1111/jce.16423. PMID: 39233390Free PMC Article
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
Atrial fibrillation in the setting of cardiac amyloidosis - A review of the literature.
Bazoukis G, Saplaouras A, Efthymiou P, Yiannikourides A, Liu T, Sfairopoulos D, Korantzopoulos P, Varrias D, Letsas KP, Thomopoulos C, Tse G, Stavrakis S
J Cardiol 2024 Sep;84(3):155-160. Epub 2024 Mar 31 doi: 10.1016/j.jjcc.2024.03.008. PMID: 38565394
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
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

Recent systematic reviews

Durability of pulmonary vein isolation for atrial fibrillation: a meta-analysis and systematic review.
Serban T, Mannhart D, Abid QU, Höchli A, Lazar S, Krisai P, Bettelini AS, Knecht S, Kühne M, Sticherling C, du Fay de Lavallaz J, Badertscher P
Europace 2023 Nov 2;25(11) doi: 10.1093/europace/euad335. PMID: 37944133Free PMC Article
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
Intravenous magnesium in the management of rapid atrial fibrillation: A systematic review and meta-analysis.
Ramesh T, Lee PYK, Mitta M, Allencherril J
J Cardiol 2021 Nov;78(5):375-381. Epub 2021 Jun 20 doi: 10.1016/j.jjcc.2021.06.001. PMID: 34162502
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
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

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    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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