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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

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
Calkins H, Hindricks G, Cappato R, Kim YH, Saad EB, Aguinaga L, Akar JG, Badhwar V, Brugada J, Camm J, Chen PS, Chen SA, Chung MK, Nielsen JC, Curtis AB, Davies DW, Day JD, d'Avila A, de Groot NMSN, Di Biase L, Duytschaever M, Edgerton JR, Ellenbogen KA, Ellinor PT, Ernst S, Fenelon G, Gerstenfeld EP, Haines DE, Haissaguerre M, Helm RH, Hylek E, Jackman WM, Jalife J, Kalman JM, Kautzner J, Kottkamp H, Kuck KH, Kumagai K, Lee R, Lewalter T, Lindsay BD, Macle L, Mansour M, Marchlinski FE, Michaud GF, Nakagawa H, Natale A, Nattel S, Okumura K, Packer D, Pokushalov E, Reynolds MR, Sanders P, Scanavacca M, Schilling R, Tondo C, Tsao HM, Verma A, Wilber DJ, Yamane T
Heart Rhythm 2017 Oct;14(10):e275-e444. Epub 2017 May 12 doi: 10.1016/j.hrthm.2017.05.012. PMID: 28506916Free 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

Curated

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

Recent clinical studies

Etiology

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
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
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
Van Gelder IC, Groenveld HF, Crijns HJ, Tuininga YS, Tijssen JG, Alings AM, Hillege HL, Bergsma-Kadijk JA, Cornel JH, Kamp O, Tukkie R, Bosker HA, Van Veldhuisen DJ, Van den Berg MP; RACE II Investigators
N Engl J Med 2010 Apr 15;362(15):1363-73. Epub 2010 Mar 15 doi: 10.1056/NEJMoa1001337. PMID: 20231232

Diagnosis

Prasad RM, Saleh Y, Al-Abcha A, Abdelkarim O, Abdelfattah OM, Abdelnabi M, Almaghraby A, Elwany M, DeBruyn E, Abela GS
Cardiovasc Revasc Med 2022 Jul;40:26-36. Epub 2021 Nov 4 doi: 10.1016/j.carrev.2021.11.002. PMID: 34801420
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
Blomström-Lundqvist C, Gizurarson S, Schwieler J, Jensen SM, Bergfeldt L, Kennebäck G, Rubulis A, Malmborg H, Raatikainen P, Lönnerholm S, Höglund N, Mörtsell D
JAMA 2019 Mar 19;321(11):1059-1068. doi: 10.1001/jama.2019.0335. PMID: 30874754Free 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
Skinner A
Nurs Stand 2013 Dec 4-10;28(14):60. doi: 10.7748/ns2013.12.28.14.60.s50. PMID: 24299388

Therapy

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
Stortecky S, da Costa BR, Mattle HP, Carroll J, Hornung M, Sievert H, Trelle S, Windecker S, Meier B, Jüni P
Eur Heart J 2015 Jan 7;36(2):120-8. Epub 2014 Aug 11 doi: 10.1093/eurheartj/ehu292. PMID: 25112661

Prognosis

Krishnamurthy Y, Ben-Ami J, Robbins BT, Sommer RJ
Catheter Cardiovasc Interv 2022 Aug;100(2):219-224. Epub 2022 Jun 1 doi: 10.1002/ccd.30247. PMID: 35652162
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
Ho CY, Day SM, Ashley EA, Michels M, Pereira AC, Jacoby D, Cirino AL, Fox JC, Lakdawala NK, Ware JS, Caleshu CA, Helms AS, Colan SD, Girolami F, Cecchi F, Seidman CE, Sajeev G, Signorovitch J, Green EM, Olivotto I
Circulation 2018 Oct 2;138(14):1387-1398. Epub 2018 Aug 23 doi: 10.1161/CIRCULATIONAHA.117.033200. PMID: 30297972Free 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
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

Huber MP, Pandit JA, Jensen PN, Wiggins KL, Patel RB, Freed BH, Bertoni AG, Shah SJ, Heckbert SR, Floyd JS
J Am Heart Assoc 2022 Nov;11(21):e026875. Epub 2022 Oct 31 doi: 10.1161/JAHA.122.026875. PMID: 36314499Free PMC Article
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
Raphael CE, Liew AC, Mitchell F, Kanaganayagam GS, Di Pietro E, Newsome S, Owen R, Gregson J, Cooper R, Amin FR, Gatehouse P, Vassiliou V, Ernst S, O'Hanlon R, Frenneaux M, Pennell DJ, Prasad SK
Am J Cardiol 2020 Dec 1;136:140-148. Epub 2020 Sep 17 doi: 10.1016/j.amjcard.2020.09.006. PMID: 32950468
Lehtonen AO, Langén VL, Porthan K, Kähönen M, Nieminen MS, Jula AM, Niiranen TJ
J Hypertens 2018 Sep;36(9):1874-1881. doi: 10.1097/HJH.0000000000001760. PMID: 29677051
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

Recent systematic reviews

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
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
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

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    Clinical resources

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      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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