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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): Gene(s) directly associated with this condition or phenotype.	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).

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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.

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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.

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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.

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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.

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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.

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Thromboembolic stroke

MedGen UID:: 488954
•Concept ID:: C1112433
•: Disease or Syndrome

A cerebrovascular accident (stroke) that occurs because of thromboembolism.

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Abnormality of blood and blood-forming tissues
- Thromboembolic stroke
Abnormality of the cardiovascular system
Constitutional symptom
- Sudden cardiac death

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAtrial fibrillation
- CROGVAtrial fibrillation, familial, 3
- CROGVAtrial fibrillation, familial, 4
- CROGVAtrial fibrillation, familial, 7
- CROGVAtrial fibrillation, familial, 9
- CROGVAtrial fibrillation, familial, 11
- CROGVAtrial fibrillation, familial, 12

Abnormal cardiovascular system physiology
- Abnormality of cardiovascular system electrophysiology
  - Cardiac arrhythmia
    - Supraventricular arrhythmia
      - Atrial arrhythmia
        Atrial fibrillation
        Atrial fibrillation, familial, 3

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: 38033089 Free PMC Article

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

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

See all (1922)

Curated

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

Recent clinical studies

Etiology

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: 36514212 Free 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: 28822529 Free PMC Article

Risk factors for atrial fibrillation recurrence: a literature review.

Vizzardi E, Curnis A, Latini MG, Salghetti F, Rocco E, Lupi L, Rovetta R, Quinzani F, Bonadei I, Bontempi L, D'Aloia A, Dei Cas L
J Cardiovasc Med (Hagerstown) 2014 Mar;15(3):235-53. doi: 10.2459/JCM.0b013e328358554b. PMID: 23114271

See all (27983)

Diagnosis

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: 36514212 Free 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

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: 28822529 Free PMC Article

See all (15032)

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: 33554614 Free 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: 30874766 Free PMC Article

Cardioembolic Stroke.

Kamel H, Healey JS
Circ Res 2017 Feb 3;120(3):514-526. doi: 10.1161/CIRCRESAHA.116.308407. PMID: 28154101 Free PMC Article

See all (19243)

Prognosis

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: 36514212 Free 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: 34587750 Free PMC Article

New-onset atrial fibrillation during COVID-19 infection predicts poor prognosis.

Pardo Sanz A, Salido Tahoces L, Ortega Pérez R, González Ferrer E, Sánchez Recalde Á, Zamorano Gómez JL
Cardiol J 2021;28(1):34-40. Epub 2020 Nov 3 doi: 10.5603/CJ.a2020.0145. PMID: 33140386 Free PMC Article

Initial Precipitants and Recurrence of Atrial Fibrillation.

Wang EY, Hulme OL, Khurshid S, Weng LC, Choi SH, Walkey AJ, Ashburner JM, McManus DD, Singer DE, Atlas SJ, Benjamin EJ, Ellinor PT, Trinquart L, Lubitz SA
Circ Arrhythm Electrophysiol 2020 Mar;13(3):e007716. Epub 2020 Feb 12 doi: 10.1161/CIRCEP.119.007716. PMID: 32078361 Free 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: 25960110 Free PMC Article

See all (16847)

Clinical prediction guides

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

Scoring systems in the prediction of atrial fibrillation recurrence after surgical ablation.

Lauritzen DJ, Andersen FT, Modrau IS, Christensen TD, Heiberg J
J Card Surg 2022 Oct;37(10):3044-3049. Epub 2022 Jul 23 doi: 10.1111/jocs.16799. PMID: 35870158

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: 34198265 Free 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

See all (17881)

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: 35830118 Free 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

Oral Anticoagulant Agents in Patients With Atrial Fibrillation and CKD: A Systematic Review and Pairwise Network Meta-analysis.

Su X, Yan B, Wang L, Lv J, Cheng H, Chen Y
Am J Kidney Dis 2021 Nov;78(5):678-689.e1. Epub 2021 Apr 16 doi: 10.1053/j.ajkd.2021.02.328. PMID: 33872690

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: 29183961 Free 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: 28617620 Free PMC Article

See all (1107)

MedGen

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Atrial fibrillation, familial, 3(ATFB3)

Definition

Additional description

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Curated

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

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Curated

Molecular resources

Consumer resources

Reviews

Related information

Recent activity