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Atrial fibrillation, familial, 14(ATFB14)

MedGen UID:
815642
Concept ID:
C3809312
Disease or Syndrome
Synonym: ATFB14
 
Gene (location): SCN2B (11q23.3)
 
Monarch Initiative: MONDO:0014156
OMIM®: 615378

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 familial atrial fibrillation, see ATFB1 (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
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
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.
ST segment elevation
MedGen UID:
99256
Concept ID:
C0520886
Finding
An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line.
Prolonged PR interval
MedGen UID:
154645
Concept ID:
C0600125
Finding
Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).

Professional guidelines

PubMed

Ommen SR, Ho CY, Asif IM, Balaji S, Burke MA, Day SM, Dearani JA, Epps KC, Evanovich L, Ferrari VA, Joglar JA, Khan SS, Kim JJ, Kittleson MM, Krittanawong C, Martinez MW, Mital S, Naidu SS, Saberi S, Semsarian C, Times S, Waldman CB
Circulation 2024 Jun 4;149(23):e1239-e1311. Epub 2024 May 8 doi: 10.1161/CIR.0000000000001250. PMID: 38718139
Lauder L, Mahfoud F, Azizi M, Bhatt DL, Ewen S, Kario K, Parati G, Rossignol P, Schlaich MP, Teo KK, Townsend RR, Tsioufis C, Weber MA, Weber T, Böhm M
Eur Heart J 2023 Jun 20;44(23):2066-2077. doi: 10.1093/eurheartj/ehac395. PMID: 36342266
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

Curated

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

Recent clinical studies

Etiology

McIntyre WF, Vadakken ME, Connolly SJ, Mendoza PA, Lengyel AP, Rai AS, Latendresse NR, Grinvalds AJ, Ramasundarahettige C, Acosta JG, Um KJ, Roberts JD, Conen D, Wong JA, Devereaux PJ, Belley-Côté EP, Whitlock RP, Healey JS
Ann Intern Med 2023 Oct;176(10):1299-1307. Epub 2023 Oct 3 doi: 10.7326/M23-1411. PMID: 37782930
Gopinathannair R, Chen LY, Chung MK, Cornwell WK, Furie KL, Lakkireddy DR, Marrouche NF, Natale A, Olshansky B, Joglar JA; American Heart Association Electrocardiography and Arrhythmias Committee and Heart Failure and Transplantation Committee of the Council on Clinical Cardiology; Council on Arteriosclerosis, Thrombosis and Vascular Biology; Council on Hypertension; Council on Lifestyle and Cardiometabolic Health; and the Stroke Council
Circ Arrhythm Electrophysiol 2021 Jun;14(6):HAE0000000000000078. Epub 2021 Jun 15 doi: 10.1161/HAE.0000000000000078. PMID: 34129347
Staerk L, Sherer JA, Ko D, Benjamin EJ, Helm RH
Circ Res 2017 Apr 28;120(9):1501-1517. doi: 10.1161/CIRCRESAHA.117.309732. PMID: 28450367Free 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
Ko D, Rahman F, Martins MA, Hylek EM, Ellinor PT, Schnabel RB, Benjamin EJ, Christophersen IE
Nat Rev Cardiol 2017 Feb;14(2):113-124. Epub 2016 Oct 27 doi: 10.1038/nrcardio.2016.171. PMID: 27786235Free PMC Article

Diagnosis

Dai H, Hou T, Wang Q, Hou Y, Zhu Z, Zhu Y, Zhao Z, Li M, Lin H, Wang S, Zheng R, Xu Y, Lu J, Wang T, Ning G, Wang W, Zheng J, Bi Y, Xu M
Cardiovasc Diabetol 2023 Nov 8;22(1):306. doi: 10.1186/s12933-023-02045-6. PMID: 37940997Free PMC Article
McIntyre WF, Vadakken ME, Connolly SJ, Mendoza PA, Lengyel AP, Rai AS, Latendresse NR, Grinvalds AJ, Ramasundarahettige C, Acosta JG, Um KJ, Roberts JD, Conen D, Wong JA, Devereaux PJ, Belley-Côté EP, Whitlock RP, Healey JS
Ann Intern Med 2023 Oct;176(10):1299-1307. Epub 2023 Oct 3 doi: 10.7326/M23-1411. PMID: 37782930
Silverio A, Di Maio M, Prota C, De Angelis E, Radano I, Citro R, Carrizzo A, Ciccarelli M, Vecchione C, Capodanno D, Galasso G
Eur Heart J Cardiovasc Pharmacother 2021 Apr 9;7(FI1):f20-f29. doi: 10.1093/ehjcvp/pvz073. PMID: 31830264
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
Falk RH
N Engl J Med 2001 Apr 5;344(14):1067-78. doi: 10.1056/NEJM200104053441407. PMID: 11287978

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
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: 33554614Free PMC Article
Poole JE, Bahnson TD, Monahan KH, Johnson G, Rostami H, Silverstein AP, Al-Khalidi HR, Rosenberg Y, Mark DB, Lee KL, Packer DL; CABANA Investigators and ECG Rhythm Core Lab
J Am Coll Cardiol 2020 Jun 30;75(25):3105-3118. doi: 10.1016/j.jacc.2020.04.065. PMID: 32586583Free PMC Article
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: 29183961Free 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

Prognosis

Wang N, Yu Y, Sun Y, Zhang H, Wang Y, Chen C, Tan X, Wang B, Lu Y
Eur Heart J 2023 Dec 14;44(47):4982-4993. doi: 10.1093/eurheartj/ehad615. PMID: 37723974Free PMC Article
Kirchhof P, Camm AJ, Goette A, Brandes A, Eckardt L, Elvan A, Fetsch T, van Gelder IC, Haase D, Haegeli LM, Hamann F, Heidbüchel H, Hindricks G, Kautzner J, Kuck KH, Mont L, Ng GA, Rekosz J, Schoen N, Schotten U, Suling A, Taggeselle J, Themistoclakis S, Vettorazzi E, Vardas P, Wegscheider K, Willems S, Crijns HJGM, Breithardt G; EAST-AFNET 4 Trial Investigators
N Engl J Med 2020 Oct 1;383(14):1305-1316. Epub 2020 Aug 29 doi: 10.1056/NEJMoa2019422. PMID: 32865375
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
Seitz J, Bars C, Théodore G, Beurtheret S, Lellouche N, Bremondy M, Ferracci A, Faure J, Penaranda G, Yamazaki M, Avula UM, Curel L, Siame S, Berenfeld O, Pisapia A, Kalifa J
J Am Coll Cardiol 2017 Jan 24;69(3):303-321. doi: 10.1016/j.jacc.2016.10.065. PMID: 28104073Free 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

Beyer C, Tokarska L, Stühlinger M, Feuchtner G, Hintringer F, Honold S, Fiedler L, Schönbauer MS, Schönbauer R, Plank F
JACC Cardiovasc Imaging 2021 Nov;14(11):2199-2208. Epub 2021 Jun 16 doi: 10.1016/j.jcmg.2021.04.027. PMID: 34147453
Malavasi VL, Fantecchi E, Tordoni V, Melara L, Barbieri A, Vitolo M, Lip GYH, Boriani G
Intern Emerg Med 2021 Aug;16(5):1131-1140. Epub 2020 Nov 7 doi: 10.1007/s11739-020-02551-5. PMID: 33161524
Keach JW, Bradley SM, Turakhia MP, Maddox TM
Heart 2015 Jul;101(14):1097-102. Epub 2015 May 2 doi: 10.1136/heartjnl-2015-307588. PMID: 25935765
Kolek MJ, Muehlschlegel JD, Bush WS, Parvez B, Murray KT, Stein CM, Shoemaker MB, Blair MA, Kor KC, Roden DM, Donahue BS, Fox AA, Shernan SK, Collard CD, Body SC, Darbar D
Circ Arrhythm Electrophysiol 2015 Feb;8(1):25-31. Epub 2015 Jan 7 doi: 10.1161/CIRCEP.114.002300. PMID: 25567478Free PMC Article
Lankveld TA, Zeemering S, Crijns HJ, Schotten U
Heart 2014 Jul;100(14):1077-84. Epub 2014 May 16 doi: 10.1136/heartjnl-2013-305149. PMID: 24837984

Recent systematic reviews

Somma V, Ha FJ, Palmer S, Mohamed U, Agarwal S
Heart Rhythm 2023 Feb;20(2):282-290. Epub 2022 Nov 7 doi: 10.1016/j.hrthm.2022.09.019. PMID: 36356656
Parker K, Hartemink J, Saha A, Mitra R, Lewis P, Power A, Choudhuri S, Mitra S, Thachil J
J Nephrol 2022 Nov;35(8):2015-2033. Epub 2022 Aug 25 doi: 10.1007/s40620-022-01413-x. PMID: 36006608Free PMC Article
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
Kolmos M, Christoffersen L, Kruuse C
J Stroke Cerebrovasc Dis 2021 Aug;30(8):105935. Epub 2021 Jun 18 doi: 10.1016/j.jstrokecerebrovasdis.2021.105935. PMID: 34153594
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: 29183961Free 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.

    Curated

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

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