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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
Reddy YNV, Borlaug BA, Gersh BJ
Circulation 2022 Jul 26;146(4):339-357. Epub 2022 Jul 25 doi: 10.1161/CIRCULATIONAHA.122.057444. PMID: 35877831
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

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
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
Baeza-Herrera LA, Rojas-Velasco G, Márquez-Murillo MF, Portillo-Romero ADR, Medina-Paz L, Álvarez-Álvarez R, Ramos-Enríquez Á, Baranda-Tovar FM
Arch Cardiol Mex 2019;89(4):348-359. doi: 10.24875/ACM.19000134. PMID: 31834314
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
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

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
Reddy YNV, Borlaug BA, Gersh BJ
Circulation 2022 Jul 26;146(4):339-357. Epub 2022 Jul 25 doi: 10.1161/CIRCULATIONAHA.122.057444. PMID: 35877831
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
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
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

Therapy

Al-Kaisey AM, Parameswaran R, Bryant C, Anderson RD, Hawson J, Chieng D, Segan L, Voskoboinik A, Sugumar H, Wong GR, Finch S, Joseph SA, McLellan A, Ling LH, Morton J, Sparks P, Sanders P, Lee G, Kistler PM, Kalman JM
JAMA 2023 Sep 12;330(10):925-933. doi: 10.1001/jama.2023.14685. PMID: 37698564Free PMC Article
Harrington J, Carnicelli AP, Hua K, Wallentin L, Patel MR, Hohnloser SH, Giugliano RP, Fox KAA, Hijazi Z, Lopes RD, Pokorney SD, Hong H, Granger CB
Circulation 2023 Jun 6;147(23):1748-1757. Epub 2023 Apr 12 doi: 10.1161/CIRCULATIONAHA.122.062752. PMID: 37042255Free PMC Article
Gawałko M, Linz D
Hypertension 2023 Mar;80(3):523-533. Epub 2022 Dec 15 doi: 10.1161/HYPERTENSIONAHA.122.19459. PMID: 36519436
Noseworthy PA, Attia ZI, Behnken EM, Giblon RE, Bews KA, Liu S, Gosse TA, Linn ZD, Deng Y, Yin J, Gersh BJ, Graff-Radford J, Rabinstein AA, Siontis KC, Friedman PA, Yao X
Lancet 2022 Oct 8;400(10359):1206-1212. Epub 2022 Sep 27 doi: 10.1016/S0140-6736(22)01637-3. PMID: 36179758
Roman S, Patel K, Hana D, Guice KC, Patel J, Stadnick C, Basta A, Khouzam RN
Future Cardiol 2022 Apr;18(4):354-353. Epub 2022 Mar 8 doi: 10.2217/fca-2021-0034. PMID: 35255732

Prognosis

Reiffel JA
Am J Med 2022 Aug;135(8):939-944. Epub 2022 Apr 1 doi: 10.1016/j.amjmed.2022.03.016. PMID: 35367447
Salam AM, Kaddoura R, Salih V, Asopa S
Rev Cardiovasc Med 2021 Dec 22;22(4):1185-1196. doi: 10.31083/j.rcm2204127. PMID: 34957762
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
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

Wasserlauf J, Vogel K, Whisler C, Benjamin E, Helm R, Steinhaus DA, Yousuf O, Passman RS
J Cardiovasc Electrophysiol 2023 May;34(5):1103-1107. Epub 2023 Mar 30 doi: 10.1111/jce.15892. PMID: 36942773
Prasitlumkum N, Cheungpasitporn W, Chokesuwattanaskul A, Thangjui S, Thongprayoon C, Bathini T, Vallabhajosyula S, Kanitsoraphan C, Leesutipornchai T, Chokesuwattanaskul R
Arch Cardiovasc Dis 2021 Jan;114(1):4-16. Epub 2020 Sep 10 doi: 10.1016/j.acvd.2020.05.015. PMID: 32921618
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

Benali K, Khairy P, Hammache N, Petzl A, Da Costa A, Verma A, Andrade JG, Macle L
J Am Coll Cardiol 2023 May 30;81(21):2089-2099. doi: 10.1016/j.jacc.2023.03.418. PMID: 37225362
Prasitlumkum N, Cheungpasitporn W, Chokesuwattanaskul A, Thangjui S, Thongprayoon C, Bathini T, Vallabhajosyula S, Kanitsoraphan C, Leesutipornchai T, Chokesuwattanaskul R
Arch Cardiovasc Dis 2021 Jan;114(1):4-16. Epub 2020 Sep 10 doi: 10.1016/j.acvd.2020.05.015. PMID: 32921618
Pan KL, Singer DE, Ovbiagele B, Wu YL, Ahmed MA, Lee M
J Am Heart Assoc 2017 Jul 18;6(7) doi: 10.1161/JAHA.117.005835. PMID: 28720644Free PMC Article
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
Risom SS, Zwisler AD, Johansen PP, Sibilitz KL, Lindschou J, Gluud C, Taylor RS, Svendsen JH, Berg SK
Cochrane Database Syst Rev 2017 Feb 9;2(2):CD011197. doi: 10.1002/14651858.CD011197.pub2. PMID: 28181684Free PMC Article

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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