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Atrial fibrillation, familial, 4(ATFB4)

MedGen UID:
400041
Concept ID:
C1862394
Disease or Syndrome
Synonyms: ATFB4; KCNE2-Related Familial Atrial Fibrillation
 
Gene (location): KCNE2 (21q22.11)
 
Monarch Initiative: MONDO:0012677
OMIM®: 611493

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 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.
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.
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.
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.
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, 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
Shaw JR, Kaplovitch E, Douketis J
Med Clin North Am 2020 Jul;104(4):709-726. Epub 2020 May 12 doi: 10.1016/j.mcna.2020.02.005. PMID: 32505262
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

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
Lindley KJ, Judge N
Clin Obstet Gynecol 2020 Dec;63(4):878-892. doi: 10.1097/GRF.0000000000000567. PMID: 33136827
Kornej J, Börschel CS, Benjamin EJ, Schnabel RB
Circ Res 2020 Jun 19;127(1):4-20. Epub 2020 Jun 18 doi: 10.1161/CIRCRESAHA.120.316340. PMID: 32716709Free PMC Article
Myrstad M, Malmo V, Ulimoen SR, Tveit A, Loennechen JP
Clin Res Cardiol 2019 Apr;108(4):347-354. Epub 2018 Aug 22 doi: 10.1007/s00392-018-1361-9. PMID: 30135995
Andrade JG, Deyell MW, Lee AYK, Macle L
Can J Cardiol 2018 Apr;34(4):429-436. Epub 2017 Dec 6 doi: 10.1016/j.cjca.2017.11.022. PMID: 29455950

Diagnosis

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
Bonini N, Vitolo M, Imberti JF, Proietti M, Romiti GF, Boriani G, Paaske Johnsen S, Guo Y, Lip GYH
Expert Rev Med Devices 2022 Apr;19(4):327-340. Epub 2022 Apr 25 doi: 10.1080/17434440.2022.2070005. PMID: 35451347
Lindley KJ, Judge N
Clin Obstet Gynecol 2020 Dec;63(4):878-892. doi: 10.1097/GRF.0000000000000567. PMID: 33136827
Kornej J, Börschel CS, Benjamin EJ, Schnabel RB
Circ Res 2020 Jun 19;127(1):4-20. Epub 2020 Jun 18 doi: 10.1161/CIRCRESAHA.120.316340. PMID: 32716709Free PMC Article
Andrade JG, Deyell MW, Lee AYK, Macle L
Can J Cardiol 2018 Apr;34(4):429-436. Epub 2017 Dec 6 doi: 10.1016/j.cjca.2017.11.022. PMID: 29455950

Therapy

Gawałko M, Linz D
Hypertension 2023 Mar;80(3):523-533. Epub 2022 Dec 15 doi: 10.1161/HYPERTENSIONAHA.122.19459. PMID: 36519436
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
Kotalczyk A, Ding WY, Gupta D, Wright DJ, Lip GYH
Expert Rev Cardiovasc Ther 2021 Apr;19(4):277-287. Epub 2021 Apr 13 doi: 10.1080/14779072.2021.1902307. PMID: 33715565
Halsey C, Chugh A
Cardiol Clin 2014 Nov;32(4):521-31. Epub 2014 Oct 23 doi: 10.1016/j.ccl.2014.07.011. PMID: 25443234
Dyken ML
Semin Neurol 1998;18(4):441-50. doi: 10.1055/s-2008-1040897. PMID: 9932615

Prognosis

Lee KY, Ho SW, Wang YH, Leong PY, Wei JC
Heart Lung 2022 Mar-Apr;52:110-116. Epub 2022 Jan 4 doi: 10.1016/j.hrtlng.2021.12.006. PMID: 34995914
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
DePasquale EC, Fonarow GC
Heart Fail Clin 2013 Oct;9(4):437-49, viii. doi: 10.1016/j.hfc.2013.07.009. PMID: 24054477
Korantzopoulos P, Liu T, Letsas KP, Fragakis N, Kyrlas K, Goudevenos JA
J Nephrol 2013 Jul-Aug;26(4):617-23. Epub 2013 Apr 3 doi: 10.5301/jn.5000270. PMID: 23553528
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

Chokr MO
Arq Bras Cardiol 2024;121(4):e20240355. Epub 2024 Aug 12 doi: 10.36660/abc.20240355. PMID: 39140566Free PMC Article
Newman JA, Kowey PR
Trends Cardiovasc Med 2024 May;34(4):248-249. Epub 2023 Jul 26 doi: 10.1016/j.tcm.2023.07.005. PMID: 37499957
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
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
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

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: 35830118Free PMC Article
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
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
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
Afzal MR, Gunda S, Waheed S, Sehar N, Maybrook RJ, Dawn B, Lakkireddy D
Pacing Clin Electrophysiol 2015 Oct;38(10):1236-45. Epub 2015 Aug 27 doi: 10.1111/pace.12688. PMID: 26172621

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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