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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.
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.
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.
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.
Bradycardia
MedGen UID:
140901
Concept ID:
C0428977
Finding
A slower than normal heart rate (in adults, slower than 60 beats per minute).
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

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
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
Circulation 2022 May 3;145(18):e895-e1032. Epub 2022 Apr 1 doi: 10.1161/CIR.0000000000001063. PMID: 35363499
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

Curran J, Ross-White A, Sibley S
PLoS One 2023;18(10):e0292974. Epub 2023 Oct 26 doi: 10.1371/journal.pone.0292974. PMID: 37883337Free PMC Article
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
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
Gutierrez A, Chung MK
Curr Cardiol Rep 2016 Jun;18(6):55. doi: 10.1007/s11886-016-0735-8. PMID: 27139902Free PMC Article
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

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
Med Lett Drugs Ther 2024 Jan 8;66(1693):1-8. doi: 10.58347/tml.2024.1693a. PMID: 38180321
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
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
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

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
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
Willems S, Borof K, Brandes A, Breithardt G, Camm AJ, Crijns HJGM, Eckardt L, Gessler N, Goette A, Haegeli LM, Heidbuchel H, Kautzner J, Ng GA, Schnabel RB, Suling A, Szumowski L, Themistoclakis S, Vardas P, van Gelder IC, Wegscheider K, Kirchhof P
Eur Heart J 2022 Mar 21;43(12):1219-1230. doi: 10.1093/eurheartj/ehab593. PMID: 34447995Free PMC Article
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
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

Sinigiani G, De Michieli L, Porcari A, Zocchi C, Sorella A, Mazzoni C, Bisaccia G, De Luca A, Di Bella G, Gregori D, Perfetto F, Merlo M, Sinagra G, Iliceto S, Perazzolo Marra M, Corrado D, Ricci F, Cappelli F, Cipriani A
Heart Rhythm 2024 Jun;21(6):725-732. Epub 2024 Feb 2 doi: 10.1016/j.hrthm.2024.01.056. PMID: 38309449
Li Y, Jia Y, Jiang W, Li D, Yu J, Liu Y, Liao X, Zhao Z
Cardiol J 2024;31(4):553-563. Epub 2023 Oct 19 doi: 10.5603/cj.93107. PMID: 37853826Free PMC Article
Curran J, Ross-White A, Sibley S
PLoS One 2023;18(10):e0292974. Epub 2023 Oct 26 doi: 10.1371/journal.pone.0292974. PMID: 37883337Free PMC Article
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
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

Clinical prediction guides

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
Sánchez FJ, Pueyo E, Diez ER
Int J Mol Sci 2022 Jan 25;23(3) doi: 10.3390/ijms23031355. PMID: 35163278Free PMC Article
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
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
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

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
Cardoso R, Justino GB, Graffunder FP, Benevides L, Knijnik L, Sanchez LMF, d'Avila A
Arq Bras Cardiol 2022 Jul;119(1):87-94. doi: 10.36660/abc.20210477. PMID: 35830118Free PMC Article
Casula M, Andreis A, Avondo S, Vaira MP, Imazio M
Future Cardiol 2022 Aug;18(8):647-659. Epub 2022 Jul 5 doi: 10.2217/fca-2020-0206. PMID: 35787150
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
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

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