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Atrial fibrillation, familial, 10(ATFB10)

MedGen UID:
462814
Concept ID:
C3151464
Disease or Syndrome
Synonym: ATFB10
 
Gene (location): SCN5A (3p22.2)
 
Monarch Initiative: MONDO:0013530
OMIM®: 614022

Definition

Atrial fibrillation 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 flutter
MedGen UID:
13955
Concept ID:
C0004239
Pathologic Function
A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit.
Stroke disorder
MedGen UID:
52522
Concept ID:
C0038454
Disease or Syndrome
Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.
Tricuspid regurgitation
MedGen UID:
11911
Concept ID:
C0040961
Disease or Syndrome
Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
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.
Left atrial enlargement
MedGen UID:
536845
Concept ID:
C0238705
Finding
Increase in size of the left atrium.
Right ventricular dilatation
MedGen UID:
138012
Concept ID:
C0344893
Congenital Abnormality
Enlargement of the chamber of the right ventricle, which can be defined echocardiographically as a right ventricular to left ventricular ratio greater than 1:1.
Bradycardia
MedGen UID:
140901
Concept ID:
C0428977
Finding
A slower than normal heart rate (in adults, slower than 60 beats per minute).
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.

Professional guidelines

PubMed

Douketis JD, Spyropoulos AC
JAMA 2024 Sep 10;332(10):825-834. doi: 10.1001/jama.2024.12708. PMID: 39133476
O'Keefe EL, Sturgess JE, O'Keefe JH, Gupta S, Lavie CJ
Am J Cardiol 2021 Dec 1;160:46-52. Epub 2021 Sep 25 doi: 10.1016/j.amjcard.2021.08.042. PMID: 34583808
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

Curated

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

Recent clinical studies

Etiology

Schüttler D, Bapat A, Kääb S, Lee K, Tomsits P, Clauss S, Hucker WJ
Circ Res 2020 Jun 19;127(1):91-110. Epub 2020 Jun 18 doi: 10.1161/CIRCRESAHA.120.316366. PMID: 32716814
Watanabe I
J Cardiol 2018 Feb;71(2):111-112. Epub 2017 Sep 14 doi: 10.1016/j.jjcc.2017.08.001. PMID: 28918306
Selim M, Diener HC
Stroke 2017 Oct;48(10):2660-2664. Epub 2017 Sep 15 doi: 10.1161/STROKEAHA.117.017085. PMID: 28916675
Hayashi K, Tada H, Yamagishi M
Curr Opin Cardiol 2017 Jan;32(1):10-16. doi: 10.1097/HCO.0000000000000356. PMID: 27861186
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

Diagnosis

Crump C, Wei J, Sundquist J, Sundquist K
JAMA Cardiol 2025 Dec 1;10(12):1285-1294. doi: 10.1001/jamacardio.2025.3951. PMID: 41123920Free PMC Article
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
Guasch E, Mont L
Nat Rev Cardiol 2017 Feb;14(2):88-101. Epub 2016 Nov 10 doi: 10.1038/nrcardio.2016.173. PMID: 27830772
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
Menke J, Lüthje L, Kastrup A, Larsen J
Am J Cardiol 2010 Feb 15;105(4):502-10. doi: 10.1016/j.amjcard.2009.10.018. PMID: 20152245

Therapy

Dehbi HM, Fischer U, Åsberg S, Milling TJ, Abend S, Ahmed N, Branca M, Davis LA, Engelter ST, Freemantle N, Gattringer T, Ghukasyan Lakic T, Hijazi Z, James M, Koga M, Lawrence P, Lemmens R, Lip GYH, Massingham S, Nash PS, Ndoutoumou A, Norrving B, Salanti G, Sprigg N, Thomalla G, Vanniyasingam T, Wester P, Warach SJ, Oldgren J, Dawson J, Werring DJ
Lancet 2025 Jul 5;406(10498):43-51. Epub 2025 Jun 23 doi: 10.1016/S0140-6736(25)00439-8. PMID: 40570866
Zafeiropoulos S, Doundoulakis I, Bekiaridou A, Farmakis IT, Papadopoulos GE, Coleman KM, Giannakoulas G, Zanos S, Tsiachris D, Duru F, Saguner AM, Mountantonakis SE, Stavrakis S
JACC Clin Electrophysiol 2024 Jul;10(7 Pt 1):1395-1405. Epub 2024 May 8 doi: 10.1016/j.jacep.2024.03.006. PMID: 38727662
Niforatos JD, Ehmann MR, Balhara KS, Hinson JS, Ramcharran L, Lobner K, Weygandt PL
Acad Emerg Med 2023 Feb;30(2):124-132. Epub 2022 Dec 5 doi: 10.1111/acem.14618. PMID: 36326565
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
Patel MR, Mahaffey KW, Garg J, Pan G, Singer DE, Hacke W, Breithardt G, Halperin JL, Hankey GJ, Piccini JP, Becker RC, Nessel CC, Paolini JF, Berkowitz SD, Fox KA, Califf RM; ROCKET AF Investigators
N Engl J Med 2011 Sep 8;365(10):883-91. Epub 2011 Aug 10 doi: 10.1056/NEJMoa1009638. PMID: 21830957

Prognosis

Ding L, Zhang H, Liu Y, Jiang Z, Yu F, Qi Y, Zhou B, Shen Y, Tang M
Cardiovasc Diabetol 2025 Oct 29;24(1):414. doi: 10.1186/s12933-025-02963-7. PMID: 41163015Free PMC Article
Zuo Z, Zhou Z, Liu Q, Shi R, Wu T
Cardiovasc Diabetol 2025 Apr 2;24(1):149. doi: 10.1186/s12933-025-02709-5. PMID: 40176089Free PMC Article
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: 32078361Free PMC Article
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
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

Short SAP, Wilkinson K, Hald E, Howard G, Howard V, Judd SE, Soliman EZ, Kissela B, Robinson D, Stanton R, Cushman M
J Thromb Haemost 2025 Oct;23(10):3160-3172. Epub 2025 Aug 6 doi: 10.1016/j.jtha.2025.06.007. PMID: 40774830Free PMC Article
Poorthuis MHF, Jones NR, Sherliker P, Clack R, de Borst GJ, Clarke R, Lewington S, Halliday A, Bulbulia R
Eur J Prev Cardiol 2021 May 22;28(6):586-595. doi: 10.1093/eurjpc/zwaa082. PMID: 33624100Free PMC Article
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
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
Parameswaran R, Voskoboinik A, Gorelik A, Lee G, Kistler PM, Sanders P, Kalman JM
Europace 2018 Jul 1;20(7):1099-1106. doi: 10.1093/europace/eux370. PMID: 29340595

Recent systematic reviews

Gawałko M, Middeldorp ME, Saljic A, Penders J, Jespersen T, Albert CM, Marcus GM, Wong CX, Sanders P, Linz D
Eur Heart J 2024 Oct 21;45(40):4259-4274. doi: 10.1093/eurheartj/ehae551. PMID: 39288159
Zafeiropoulos S, Doundoulakis I, Bekiaridou A, Farmakis IT, Papadopoulos GE, Coleman KM, Giannakoulas G, Zanos S, Tsiachris D, Duru F, Saguner AM, Mountantonakis SE, Stavrakis S
JACC Clin Electrophysiol 2024 Jul;10(7 Pt 1):1395-1405. Epub 2024 May 8 doi: 10.1016/j.jacep.2024.03.006. PMID: 38727662
Niforatos JD, Ehmann MR, Balhara KS, Hinson JS, Ramcharran L, Lobner K, Weygandt PL
Acad Emerg Med 2023 Feb;30(2):124-132. Epub 2022 Dec 5 doi: 10.1111/acem.14618. PMID: 36326565
O'Keefe EL, Sturgess JE, O'Keefe JH, Gupta S, Lavie CJ
Am J Cardiol 2021 Dec 1;160:46-52. Epub 2021 Sep 25 doi: 10.1016/j.amjcard.2021.08.042. PMID: 34583808
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

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

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