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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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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).
See: Feature record | Search on this feature

Professional guidelines

PubMed

Hypertension management in patients with cardiovascular comorbidities.
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
2017 HRS/EHRA/ECAS/APHRS/SOLAECE expert consensus statement on catheter and surgical ablation of atrial fibrillation.
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
Diagnosis, pathophysiology, and management of exercise-induced arrhythmias.
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

Roles of gut microbiota in atrial fibrillation: insights from Mendelian randomization analysis and genetic data from over 430,000 cohort study participants.
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
Managing Atrial Fibrillation in Patients With Heart Failure and Reduced Ejection Fraction: A Scientific Statement From the American Heart Association.
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
Chocolate consumption and risk of atrial fibrillation: Two cohort studies and a meta-analysis.
Larsson SC, Drca N, Jensen-Urstad M, Wolk A
Am Heart J 2018 Jan;195:86-90. Epub 2017 Sep 21 doi: 10.1016/j.ahj.2017.09.013. PMID: 29224650
Atrial Fibrillation: Epidemiology, Pathophysiology, and Clinical Outcomes.
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
Diagnosis, pathophysiology, and management of exercise-induced arrhythmias.
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

Diagnosis

Roles of gut microbiota in atrial fibrillation: insights from Mendelian randomization analysis and genetic data from over 430,000 cohort study participants.
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
EUropean real-world outcomes with Pulsed field ablatiOn in patients with symptomatic atRIAl fibrillation: lessons from the multi-centre EU-PORIA registry.
Schmidt B, Bordignon S, Neven K, Reichlin T, Blaauw Y, Hansen J, Adelino R, Ouss A, Füting A, Roten L, Mulder BA, Ruwald MH, Mené R, van der Voort P, Reinsch N, Kueffer T, Boveda S, Albrecht EM, Schneider CW, Chun KRJ
Europace 2023 Jul 4;25(7) doi: 10.1093/europace/euad185. PMID: 37379528Free PMC Article
Atrial fibrillation-related stroke in women: Evidence and inequalities in epidemiology, mechanisms, clinical presentation, and management.
Kostopoulou A, Zeljko HM, Bogossian H, Ciudin R, Costa F, Heijman J, Kochhaeuser S, Manola S, Scherr D, Sohal M, Wakili R, Wolf M, Irfan G; on the behalf of the DAS-CAM participants-2017-2018
Clin Cardiol 2020 Jan;43(1):14-23. Epub 2019 Nov 6 doi: 10.1002/clc.23284. PMID: 31691981Free PMC Article
Chocolate consumption and risk of atrial fibrillation: Two cohort studies and a meta-analysis.
Larsson SC, Drca N, Jensen-Urstad M, Wolk A
Am Heart J 2018 Jan;195:86-90. Epub 2017 Sep 21 doi: 10.1016/j.ahj.2017.09.013. PMID: 29224650
Diagnosis, pathophysiology, and management of exercise-induced arrhythmias.
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

Therapy

Atrial Fibrillation Catheter Ablation vs Medical Therapy and Psychological Distress: A Randomized Clinical Trial.
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
Individualized Studies of Triggers of Paroxysmal Atrial Fibrillation: The I-STOP-AFib Randomized Clinical Trial.
Marcus GM, Modrow MF, Schmid CH, Sigona K, Nah G, Yang J, Chu TC, Joyce S, Gettabecha S, Ogomori K, Yang V, Butcher X, Hills MT, McCall D, Sciarappa K, Sim I, Pletcher MJ, Olgin JE
JAMA Cardiol 2022 Feb 1;7(2):167-174. doi: 10.1001/jamacardio.2021.5010. PMID: 34775507Free PMC Article
Ablation Versus Drug Therapy for Atrial Fibrillation in Heart Failure: Results From the CABANA Trial.
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
Recurrence of Atrial Fibrillation After Catheter Ablation or Antiarrhythmic Drug Therapy in the CABANA Trial.
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
Oral anticoagulants for prevention of stroke in atrial fibrillation: systematic review, network meta-analysis, and cost effectiveness analysis.
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

Prognosis

Acquired risk factors and incident atrial fibrillation according to age and genetic predisposition.
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
Early Rhythm-Control Therapy in Patients with Atrial Fibrillation.
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
Chocolate consumption and risk of atrial fibrillation: Two cohort studies and a meta-analysis.
Larsson SC, Drca N, Jensen-Urstad M, Wolk A
Am Heart J 2018 Jan;195:86-90. Epub 2017 Sep 21 doi: 10.1016/j.ahj.2017.09.013. PMID: 29224650
Atrial fibrillation and the risk for myocardial infarction, all-cause mortality and heart failure: A systematic review and meta-analysis.
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
Refining clinical risk stratification for predicting stroke and thromboembolism in atrial fibrillation using a novel risk factor-based approach: the euro heart survey on atrial fibrillation.
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

Individual net clinical outcome with oral anticoagulation in atrial fibrillation using the ABC-AF risk scores.
Hijazi Z, Lindbäck J, Oldgren J, Benz AP, Alexander JH, Connolly SJ, Eikelboom JW, Granger CB, Lopes RD, Siegbahn A, Wallentin L
Am Heart J 2023 Jul;261:55-63. Epub 2023 Mar 27 doi: 10.1016/j.ahj.2023.03.012. PMID: 36990261
Density of Calcified Coronary Artery Plaque and Risk of Incident Atrial Fibrillation (from the Multiethnic Study of Atherosclerosis).
Bhatia HS, McClelland RL, Heckbert SR, Criqui M, Garg P
Am J Cardiol 2022 Sep 15;179:39-45. Epub 2022 Jul 15 doi: 10.1016/j.amjcard.2022.06.012. PMID: 35843733
Incidence and risk factors for pacemaker implantation in light-chain and transthyretin cardiac amyloidosis.
Porcari A, Rossi M, Cappelli F, Canepa M, Musumeci B, Cipriani A, Tini G, Barbati G, Varrà GG, Morelli C, Fumagalli C, Zampieri M, Argirò A, Vianello PF, Sessarego E, Russo D, Sinigiani G, De Michieli L, Di Bella G, Autore C, Perfetto F, Rapezzi C, Sinagra G, Merlo M
Eur J Heart Fail 2022 Jul;24(7):1227-1236. Epub 2022 May 16 doi: 10.1002/ejhf.2533. PMID: 35509181
Relationship among atrial fibrillation, the CHA(2)DS(2)-VASc score and ischaemic stroke in patients with coronary artery disease: a propensity score matching study in Hebei, China.
Shi B, Liu D, Wang Q, Geng X, Hou Q, Gu G, Xie R, Cui W
BMC Cardiovasc Disord 2021 Oct 2;21(1):474. doi: 10.1186/s12872-021-02276-z. PMID: 34600490Free PMC Article
QT prolongation and variability: new ECG signs of atrial potentials dispersion before atrial fibrillation onset.
Magnano M, Gallo C, Bocchino PP, Briguglio M, Rivetti A, Gaita F, Anselmino M
J Cardiovasc Med (Hagerstown) 2019 Apr;20(4):180-185. doi: 10.2459/JCM.0000000000000773. PMID: 30720638

Recent systematic reviews

Home-based versus centre-based cardiac rehabilitation.
McDonagh ST, Dalal H, Moore S, Clark CE, Dean SG, Jolly K, Cowie A, Afzal J, Taylor RS
Cochrane Database Syst Rev 2023 Oct 27;10(10):CD007130. doi: 10.1002/14651858.CD007130.pub5. PMID: 37888805Free PMC Article
Herpesviruses reactivation following COVID-19 vaccination: a systematic review and meta-analysis.
Shafiee A, Amini MJ, Arabzadeh Bahri R, Jafarabady K, Salehi SA, Hajishah H, Mozhgani SH
Eur J Med Res 2023 Aug 10;28(1):278. doi: 10.1186/s40001-023-01238-9. PMID: 37559096Free PMC Article
Recurrent Ischemic Stroke - A Systematic Review and Meta-Analysis.
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
Oral anticoagulants for prevention of stroke in atrial fibrillation: systematic review, network meta-analysis, and cost effectiveness analysis.
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
Oral anticoagulants for primary prevention, treatment and secondary prevention of venous thromboembolic disease, and for prevention of stroke in atrial fibrillation: systematic review, network meta-analysis and cost-effectiveness analysis.
Sterne JA, Bodalia PN, Bryden PA, Davies PA, López-López JA, Okoli GN, Thom HH, Caldwell DM, Dias S, Eaton D, Higgins JP, Hollingworth W, Salisbury C, Savović J, Sofat R, Stephens-Boal A, Welton NJ, Hingorani AD
Health Technol Assess 2017 Mar;21(9):1-386. doi: 10.3310/hta21090. PMID: 28279251Free 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

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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