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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

Mesnier J, Cepas-Guillén P, Freixa X, Flores-Umanzor E, Hoang Trinh K, O'Hara G, Rodés-Cabau J
Circ Cardiovasc Interv 2023 May;16(5):e012812. Epub 2023 May 16 doi: 10.1161/CIRCINTERVENTIONS.122.012812. PMID: 37192309
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
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

Miyazaki S
J Cardiovasc Electrophysiol 2024 Oct;35(10):1939-1940. Epub 2024 Aug 13 doi: 10.1111/jce.16409. PMID: 39138807
Ninni S, Dombrowicz D, de Winther M, Staels B, Montaigne D, Nattel S
J Am Coll Cardiol 2024 Mar 26;83(12):1163-1176. doi: 10.1016/j.jacc.2023.12.034. PMID: 38508850
Haeusler KG, Tütüncü S, Schnabel RB
Curr Neurol Neurosci Rep 2018 Aug 8;18(10):66. doi: 10.1007/s11910-018-0871-1. PMID: 30090997
Wasserlauf J, Passman RS
Card Electrophysiol Clin 2018 Mar;10(1):75-85. doi: 10.1016/j.ccep.2017.11.007. PMID: 29428144
Hakim FA, Shen WK
Future Cardiol 2014 Nov;10(6):745-58. doi: 10.2217/fca.14.32. PMID: 25495816

Diagnosis

Lim MW, Kistler PM
J Cardiovasc Electrophysiol 2023 Oct;34(10):2145-2151. Epub 2023 Jan 18 doi: 10.1111/jce.15808. PMID: 36598419
Yoo S, Geist GE, Pfenniger A, Rottmann M, Arora R
J Cardiovasc Electrophysiol 2021 Oct;32(10):2854-2864. Epub 2021 Jul 6 doi: 10.1111/jce.15116. PMID: 34053133Free PMC Article
Roberts HG, Wei LM, Dhamija A, Cook CC, Badhwar V
J Cardiovasc Electrophysiol 2021 Oct;32(10):2879-2883. Epub 2021 May 16 doi: 10.1111/jce.15075. PMID: 33969577
Haeusler KG, Tütüncü S, Schnabel RB
Curr Neurol Neurosci Rep 2018 Aug 8;18(10):66. doi: 10.1007/s11910-018-0871-1. PMID: 30090997
Wasserlauf J, Passman RS
Card Electrophysiol Clin 2018 Mar;10(1):75-85. doi: 10.1016/j.ccep.2017.11.007. PMID: 29428144

Therapy

D'Amico F, Fominskiy EV, Turi S, Pruna A, Fresilli S, Triulzi M, Zangrillo A, Landoni G
Br J Anaesth 2023 Nov;131(5):823-831. Epub 2023 Sep 20 doi: 10.1016/j.bja.2023.08.026. PMID: 37739903
Körtl T, Stehle T, Riedl D, Trausel J, Rebs S, Pabel S, Paulus M, Holzamer A, Marrouche N, Maier LS, Sohns C, Streckfuss-Bömeke K, Sossalla S
JACC Clin Electrophysiol 2022 Nov;8(11):1357-1366. Epub 2022 Sep 28 doi: 10.1016/j.jacep.2022.07.016. PMID: 36424002
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
Lowres N, Neubeck L, Redfern J, Freedman SB
Thromb Haemost 2013 Aug;110(2):213-22. Epub 2013 Apr 18 doi: 10.1160/TH13-02-0165. PMID: 23595785
Page RL, Hamad B, Kirkpatrick P
Nat Rev Drug Discov 2009 Oct;8(10):769-70. doi: 10.1038/nrd2998. PMID: 19794441

Prognosis

Castrichini M, Alsidawi S, Geske JB, Newman DB, Arruda-Olson AM, Bos JM, Ommen SR, Siontis KC, Ackerman MJ, Giudicessi JR
Heart Rhythm 2024 Oct;21(10):2065-2067. Epub 2024 Apr 15 doi: 10.1016/j.hrthm.2024.04.055. PMID: 38621499
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
Kokubo Y, Matsumoto C
Circ J 2016 Nov 25;80(12):2415-2422. Epub 2016 Oct 29 doi: 10.1253/circj.CJ-16-0919. PMID: 27795488
Farmakis D, Parissis J, Filippatos G
J Am Coll Cardiol 2014 Mar 18;63(10):945-53. Epub 2013 Dec 18 doi: 10.1016/j.jacc.2013.11.026. PMID: 24361314
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

Pipilas DC, Khurshid S, Al-Alusi MA, Atlas SJ, Ashburner JM, Borowsky LH, McManus DD, Singer DE, Lubitz SA, Chang Y, Ellinor PT
Heart Rhythm 2024 Sep;21(9):1640-1646. Epub 2024 Apr 29 doi: 10.1016/j.hrthm.2024.04.085. PMID: 38692342Free PMC Article
Pan KL, Chang SL, Lin YJ, Lo LW, Hu YF, Chung FP, Chao TF, Liao JN, Lin CY, Lin CH, Te ALD, Yamada S, Chang YT, Chen SA
J Cardiovasc Transl Res 2021 Apr;14(2):348-354. Epub 2020 Jun 18 doi: 10.1007/s12265-020-10047-y. PMID: 32557157
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
Sebag FA, Chaachoui N, Linton NW, Amraoui S, Harrison J, Williams S, Rinaldi AC, Gill J, Cooklin M, Kirubakaran S, O'Neill MD, Wright M, Lellouche N
Arch Cardiovasc Dis 2013 Oct;106(10):501-10. Epub 2013 Sep 23 doi: 10.1016/j.acvd.2013.06.048. PMID: 24070597

Recent systematic reviews

Khambaty M, Devalapalli AP, Silbert RE, Kashiwagi DT, Regan DW, Sundsted KK, Mauck KF
Am J Med 2023 Aug;136(8):753-762.e1. Epub 2023 May 4 doi: 10.1016/j.amjmed.2023.04.021. PMID: 37148994
Casula M, Andreis A, Avondo S, Vaira MP, Imazio M
Future Cardiol 2022 Aug;18(8):647-659. Epub 2022 Jul 5 doi: 10.2217/fca-2020-0206. PMID: 35787150
Tsiachris D, Doundoulakis I, Tsioufis P, Pagkalidou E, Antoniou CK, Zafeiropoulos SM, Gatzoulis KA, Tsioufis K, Stefanadis C
Eur J Clin Pharmacol 2022 Jun;78(6):1039-1045. Epub 2022 Feb 22 doi: 10.1007/s00228-022-03296-0. PMID: 35190869
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