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Atrial fibrillation, familial, 18(ATFB18)

MedGen UID:
934603
•Concept ID:
C4310636
•
Disease or Syndrome
Synonym: ATFB18
 
Gene (location): MYL4 (17q21.32)
 
Monarch Initiative: MONDO:0015001
OMIM®: 617280

Definition

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. [from MedlinePlus Genetics]

Clinical features

From HPO
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.
See: Feature record | Search on this feature
First degree atrioventricular block
MedGen UID:
43215
•Concept ID:
C0085614
•
Disease or Syndrome
Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles.
See: Feature record | Search on this feature
Third degree atrioventricular block
MedGen UID:
56230
•Concept ID:
C0151517
•
Disease or Syndrome
Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them.
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
Bradycardia
MedGen UID:
140901
•Concept ID:
C0428977
•
Finding
A slower than normal heart rate (in adults, slower than 60 beats per minute).
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Hyperthyroidism: aetiology, pathogenesis, diagnosis, management, complications, and prognosis.
Wiersinga WM, Poppe KG, Effraimidis G
Lancet Diabetes Endocrinol 2023 Apr;11(4):282-298. Epub 2023 Feb 24 doi: 10.1016/S2213-8587(23)00005-0. PMID: 36848916
2022 AHA/ACC/HFSA Guideline for the Management of Heart Failure: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.
Heidenreich PA, Bozkurt B, Aguilar D, Allen LA, Byun JJ, Colvin MM, Deswal A, Drazner MH, Dunlay SM, Evers LR, Fang JC, Fedson SE, Fonarow GC, Hayek SS, Hernandez AF, Khazanie P, Kittleson MM, Lee CS, Link MS, Milano CA, Nnacheta LC, Sandhu AT, Stevenson LW, Vardeny O, Vest AR, Yancy CW; ACC/AHA Joint Committee Members
Circulation 2022 May 3;145(18):e895-e1032. Epub 2022 Apr 1 doi: 10.1161/CIR.0000000000001063. PMID: 35363499
Diagnosis and Management of Transient Ischemic Attack and Acute Ischemic Stroke: A Review.
Mendelson SJ, Prabhakaran S
JAMA 2021 Mar 16;325(11):1088-1098. doi: 10.1001/jama.2020.26867. PMID: 33724327

Curated

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

Recent clinical studies

Etiology

Novel Drug Targets for Atrial Fibrillation Identified Through Mendelian Randomization Analysis of the Blood Proteome.
Ning Z, Huang Y, Lu H, Zhou Y, Tu T, Ouyang F, Liu Y, Liu Q
Cardiovasc Drugs Ther 2024 Dec;38(6):1215-1222. Epub 2023 May 22 doi: 10.1007/s10557-023-07467-8. PMID: 37212950
Atrial Fibrillation and Hypertension: "Quo Vadis".
Walker M, Patel P, Kwon O, Koene RJ, Duprez DA, Kwon Y
Curr Hypertens Rev 2022;18(1):39-53. doi: 10.2174/1573402118666220112122403. PMID: 35023459
Safety and efficacy of non-vitamin K antagonist oral anticoagulants in elderly patients with atrial fibrillation: systematic review and meta-analysis of 22 studies and 440 281 patients.
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
Genomics of Atrial Fibrillation.
Gutierrez A, Chung MK
Curr Cardiol Rep 2016 Jun;18(6):55. doi: 10.1007/s11886-016-0735-8. PMID: 27139902Free PMC Article
Prevalence of diagnosed atrial fibrillation in adults: national implications for rhythm management and stroke prevention: the AnTicoagulation and Risk Factors in Atrial Fibrillation (ATRIA) Study.
Go AS, Hylek EM, Phillips KA, Chang Y, Henault LE, Selby JV, Singer DE
JAMA 2001 May 9;285(18):2370-5. doi: 10.1001/jama.285.18.2370. PMID: 11343485

Diagnosis

Atrial secondary tricuspid regurgitation: pathophysiology, definition, diagnosis, and treatment.
Muraru D, Badano LP, Hahn RT, Lang RM, Delgado V, Wunderlich NC, Donal E, Taramasso M, Duncan A, Lurz P, De Potter T, Zamorano Gómez JL, Bax JJ, von Bardeleben RS, Enriquez-Sarano M, Maisano F, Praz F, Sitges M
Eur Heart J 2024 Mar 14;45(11):895-911. doi: 10.1093/eurheartj/ehae088. PMID: 38441886Free PMC Article
Treatment of atrial fibrillation.
Med Lett Drugs Ther 2024 Jan 8;66(1693):1-8. doi: 10.58347/tml.2024.1693a. PMID: 38180321
Rate versus rhythm control for atrial fibrillation: from AFFIRM to EAST-AFNET 4 - a paradigm shift.
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
Safety and efficacy of non-vitamin K antagonist oral anticoagulants in elderly patients with atrial fibrillation: systematic review and meta-analysis of 22 studies and 440 281 patients.
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
Prevalence of diagnosed atrial fibrillation in adults: national implications for rhythm management and stroke prevention: the AnTicoagulation and Risk Factors in Atrial Fibrillation (ATRIA) Study.
Go AS, Hylek EM, Phillips KA, Chang Y, Henault LE, Selby JV, Singer DE
JAMA 2001 May 9;285(18):2370-5. doi: 10.1001/jama.285.18.2370. PMID: 11343485

Therapy

Left atrial appendage closure for stroke prevention in atrial fibrillation: current status and perspectives.
Landmesser U, Skurk C, Tzikas A, Falk V, Reddy VY, Windecker S
Eur Heart J 2024 Aug 21;45(32):2914-2932. doi: 10.1093/eurheartj/ehae398. PMID: 39027946Free PMC Article
Intraoperative hypotension and postoperative outcomes: a meta-analysis of randomised trials.
D'Amico F, Fominskiy EV, Turi S, Pruna A, Fresilli S, Triulzi M, Zangrillo A, Landoni G
Br J Anaesth 2023 Nov;131(5):823-831. Epub 2023 Sep 20 doi: 10.1016/j.bja.2023.08.026. PMID: 37739903
Artificial intelligence-guided screening for atrial fibrillation using electrocardiogram during sinus rhythm: a prospective non-randomised interventional trial.
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
Assessment of Catheter Ablation or Antiarrhythmic Drugs for First-line Therapy of Atrial Fibrillation: A Meta-analysis of Randomized Clinical Trials.
Turagam MK, Musikantow D, Whang W, Koruth JS, Miller MA, Langan MN, Sofi A, Choudry S, Dukkipati SR, Reddy VY
JAMA Cardiol 2021 Jun 1;6(6):697-705. doi: 10.1001/jamacardio.2021.0852. PMID: 33909022Free PMC Article
Exercise-based cardiac rehabilitation for adults with atrial fibrillation.
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

Prediction of incident atrial fibrillation using deep learning, clinical models, and polygenic scores.
Jabbour G, Nolin-Lapalme A, Tastet O, Corbin D, Jordà P, Sowa A, Delfrate J, Busseuil D, Hussin JG, Dubé MP, Tardif JC, Rivard L, Macle L, Cadrin-Tourigny J, Khairy P, Avram R, Tadros R
Eur Heart J 2024 Dec 7;45(46):4920-4934. doi: 10.1093/eurheartj/ehae595. PMID: 39217446Free PMC Article
Psychological factors and risk of atrial fibrillation: A meta-analysis and systematic review.
Wu H, Li C, Li B, Zheng T, Feng K, Wu Y
Int J Cardiol 2022 Sep 1;362:85-92. Epub 2022 May 23 doi: 10.1016/j.ijcard.2022.05.048. PMID: 35618103
Incidence, risk factors, and mortality of atrial fibrillation in breast cancer: a SEER-Medicare analysis.
Guha A, Fradley MG, Dent SF, Weintraub NL, Lustberg MB, Alonso A, Addison D
Eur Heart J 2022 Jan 31;43(4):300-312. doi: 10.1093/eurheartj/ehab745. PMID: 34791123Free 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
AF Ablation Guided by Spatiotemporal Electrogram Dispersion Without Pulmonary Vein Isolation: A Wholly Patient-Tailored Approach.
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

Clinical prediction guides

Blood-based cardiometabolic phenotypes in atrial fibrillation and their associated risk: EAST-AFNET 4 biomolecule study.
Fabritz L, Chua W, Cardoso VR, Al-Taie C, Borof K, Suling A, Krause L, Kany S, Magnussen C, Wegscheider K, Breithardt G, Crijns HJGM, Camm AJ, Gkoutos G, Ellinor PT, Goette A, Schotten U, Wienhues-Thelen UH, Zeller T, Schnabel RB, Zapf A, Kirchhof P
Cardiovasc Res 2024 Jul 2;120(8):855-868. doi: 10.1093/cvr/cvae067. PMID: 38613511Free PMC Article
Left Atrial Strain for Assessment of Left Ventricular Diastolic Function: Focus on Populations With Normal LVEF.
Nagueh SF, Khan SU
JACC Cardiovasc Imaging 2023 May;16(5):691-707. Epub 2023 Jan 11 doi: 10.1016/j.jcmg.2022.10.011. PMID: 36752445
Diagnostic Accuracy of Smartwatches for the Detection of Cardiac Arrhythmia: Systematic Review and Meta-analysis.
Nazarian S, Lam K, Darzi A, Ashrafian H
J Med Internet Res 2021 Aug 27;23(8):e28974. doi: 10.2196/28974. PMID: 34448706Free PMC Article
A Novel Risk Stratification System for Ischemic Stroke in Japanese Patients With Non-Valvular Atrial Fibrillation.
Okumura K, Tomita H, Nakai M, Kodani E, Akao M, Suzuki S, Hayashi K, Sawano M, Goya M, Yamashita T, Fukuda K, Ogawa H, Tsuda T, Isobe M, Toyoda K, Miyamoto Y, Miyata H, Okamura T, Sasahara Y; J-RISK AF Research Group
Circ J 2021 Jul 21;85(8):1254-1262. Epub 2021 Mar 25 doi: 10.1253/circj.CJ-20-1075. PMID: 33762526
An artificial intelligence-enabled ECG algorithm for the identification of patients with atrial fibrillation during sinus rhythm: a retrospective analysis of outcome prediction.
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

Recent systematic reviews

A systematic review and synthesis of global stroke guidelines on behalf of the World Stroke Organization.
Mead GE, Sposato LA, Sampaio Silva G, Yperzeele L, Wu S, Kutlubaev M, Cheyne J, Wahab K, Urrutia VC, Sharma VK, Sylaja PN, Hill K, Steiner T, Liebeskind DS, Rabinstein AA
Int J Stroke 2023 Jun;18(5):499-531. Epub 2023 Mar 1 doi: 10.1177/17474930231156753. PMID: 36725717Free 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
Mobile Apps to Improve Medication Adherence in Cardiovascular Disease: Systematic Review and Meta-analysis.
Al-Arkee S, Mason J, Lane DA, Fabritz L, Chua W, Haque MS, Jalal Z
J Med Internet Res 2021 May 25;23(5):e24190. doi: 10.2196/24190. PMID: 34032583Free PMC Article
Dosage of Anticoagulants in Obesity: Recommendations Based on a Systematic Review.
Abildgaard A, Madsen SA, Hvas AM
Semin Thromb Hemost 2020 Nov;46(8):932-969. Epub 2020 Dec 23 doi: 10.1055/s-0040-1718405. PMID: 33368113
Cognitive Impairment and Heart Failure: Systematic Review and Meta-Analysis.
Cannon JA, Moffitt P, Perez-Moreno AC, Walters MR, Broomfield NM, McMurray JJV, Quinn TJ
J Card Fail 2017 Jun;23(6):464-475. Epub 2017 Apr 19 doi: 10.1016/j.cardfail.2017.04.007. PMID: 28433667

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
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