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Atrial fibrillation, familial, 15(ATFB15)

MedGen UID:
862706
Concept ID:
C4014269
Disease or Syndrome
Synonyms: ATFB15; Atrial fibrillation 15
 
Gene (location): NUP155 (5p13.2)
 
Monarch Initiative: MONDO:0014340
OMIM®: 615770

Definition

Atrial fibrillation (AF) is a supraventricular tachyarrhythmia characterized by uncoordinated atrial activation with consequent deterioration of atrial mechanical function. It is the most common sustained cardiac rhythm disturbance, and its prevalence increases as the population ages. An estimated 70,000 strokes each year are caused by atrial fibrillation (summary by Oberti et al., 2004). For a discussion of genetic heterogeneity of atrial fibrillation, see 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
Sudden cardiac death
MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
Atrial fibrillation
MedGen UID:
445
Concept ID:
C0004238
Finding
An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.
Atrial flutter
MedGen UID:
13955
Concept ID:
C0004239
Pathologic Function
A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit.
Supraventricular tachycardia
MedGen UID:
52635
Concept ID:
C0039240
Disease or Syndrome
Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.
Left atrial enlargement
MedGen UID:
536845
Concept ID:
C0238705
Finding
Increase in size of the left atrium.

Professional guidelines

PubMed

Andrade JG, Wazni OM, Kuniss M, Hawkins NM, Deyell MW, Chierchia GB, Nissen S, Verma A, Wells GA, Turgeon RD
J Am Coll Cardiol 2021 Aug 31;78(9):914-930. doi: 10.1016/j.jacc.2021.06.038. PMID: 34446164
Westerman S, Wenger N
Curr Cardiol Rev 2019;15(2):136-144. doi: 10.2174/1573403X15666181205110624. PMID: 30516110Free PMC Article
Kirchhof P, Benussi S, Kotecha D, Ahlsson A, Atar D, Casadei B, Castella M, Diener HC, Heidbuchel H, Hendriks J, Hindricks G, Manolis AS, Oldgren J, Popescu BA, Schotten U, Van Putte B, Vardas P; ESC Scientific Document Group
Eur Heart J 2016 Oct 7;37(38):2893-2962. Epub 2016 Aug 27 doi: 10.1093/eurheartj/ehw210. PMID: 27567408

Curated

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

Recent clinical studies

Etiology

Chyou JY, Barkoudah E, Dukes JW, Goldstein LB, Joglar JA, Lee AM, Lubitz SA, Marill KA, Sneed KB, Streur MM, Wong GC, Gopinathannair R; American Heart Association Acute Cardiac Care and General Cardiology Committee, Electrocardiography and Arrhythmias Committee, and Clinical Pharmacology Committee of the Council on Clinical Cardiology; Council on Cardiovascular Surgery and Anesthesia; Council on Cardiopulmonary, Critical Care, Perioperative and Resuscitation; Council on Cardiovascular and Stroke Nursing; and Stroke Council
Circulation 2023 Apr 11;147(15):e676-e698. Epub 2023 Mar 13 doi: 10.1161/CIR.0000000000001133. PMID: 36912134
Escudero-Martínez I, Morales-Caba L, Segura T
Trends Cardiovasc Med 2023 Jan;33(1):23-29. Epub 2021 Dec 7 doi: 10.1016/j.tcm.2021.12.001. PMID: 34890796
Brachmann J, Sohns C, Andresen D, Siebels J, Sehner S, Boersma L, Merkely B, Pokushalov E, Sanders P, Schunkert H, Bänsch D, Dagher L, Zhao Y, Mahnkopf C, Wegscheider K, Marrouche NF
JACC Clin Electrophysiol 2021 May;7(5):594-603. Epub 2021 Feb 24 doi: 10.1016/j.jacep.2020.11.021. PMID: 33640355
Zhang J, Johnsen SP, Guo Y, Lip GYH
Card Electrophysiol Clin 2021 Mar;13(1):1-23. Epub 2021 Jan 8 doi: 10.1016/j.ccep.2020.10.010. PMID: 33516388
Westerman S, Wenger N
Curr Cardiol Rev 2019;15(2):136-144. doi: 10.2174/1573403X15666181205110624. PMID: 30516110Free PMC Article

Diagnosis

Chyou JY, Barkoudah E, Dukes JW, Goldstein LB, Joglar JA, Lee AM, Lubitz SA, Marill KA, Sneed KB, Streur MM, Wong GC, Gopinathannair R; American Heart Association Acute Cardiac Care and General Cardiology Committee, Electrocardiography and Arrhythmias Committee, and Clinical Pharmacology Committee of the Council on Clinical Cardiology; Council on Cardiovascular Surgery and Anesthesia; Council on Cardiopulmonary, Critical Care, Perioperative and Resuscitation; Council on Cardiovascular and Stroke Nursing; and Stroke Council
Circulation 2023 Apr 11;147(15):e676-e698. Epub 2023 Mar 13 doi: 10.1161/CIR.0000000000001133. PMID: 36912134
Escudero-Martínez I, Morales-Caba L, Segura T
Trends Cardiovasc Med 2023 Jan;33(1):23-29. Epub 2021 Dec 7 doi: 10.1016/j.tcm.2021.12.001. PMID: 34890796
Andrade JG, Wazni OM, Kuniss M, Hawkins NM, Deyell MW, Chierchia GB, Nissen S, Verma A, Wells GA, Turgeon RD
J Am Coll Cardiol 2021 Aug 31;78(9):914-930. doi: 10.1016/j.jacc.2021.06.038. PMID: 34446164
Keteyian SJ, Ehrman JK, Fuller B, Pack QR
J Cardiopulm Rehabil Prev 2019 Mar;39(2):65-72. doi: 10.1097/HCR.0000000000000423. PMID: 30801433Free PMC Article
Vizzardi E, Curnis A, Latini MG, Salghetti F, Rocco E, Lupi L, Rovetta R, Quinzani F, Bonadei I, Bontempi L, D'Aloia A, Dei Cas L
J Cardiovasc Med (Hagerstown) 2014 Mar;15(3):235-53. doi: 10.2459/JCM.0b013e328358554b. PMID: 23114271

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
Chyou JY, Barkoudah E, Dukes JW, Goldstein LB, Joglar JA, Lee AM, Lubitz SA, Marill KA, Sneed KB, Streur MM, Wong GC, Gopinathannair R; American Heart Association Acute Cardiac Care and General Cardiology Committee, Electrocardiography and Arrhythmias Committee, and Clinical Pharmacology Committee of the Council on Clinical Cardiology; Council on Cardiovascular Surgery and Anesthesia; Council on Cardiopulmonary, Critical Care, Perioperative and Resuscitation; Council on Cardiovascular and Stroke Nursing; and Stroke Council
Circulation 2023 Apr 11;147(15):e676-e698. Epub 2023 Mar 13 doi: 10.1161/CIR.0000000000001133. PMID: 36912134
Niforatos JD, Ehmann MR, Balhara KS, Hinson JS, Ramcharran L, Lobner K, Weygandt PL
Acad Emerg Med 2023 Feb;30(2):124-132. Epub 2022 Dec 5 doi: 10.1111/acem.14618. PMID: 36326565
Brachmann J, Sohns C, Andresen D, Siebels J, Sehner S, Boersma L, Merkely B, Pokushalov E, Sanders P, Schunkert H, Bänsch D, Dagher L, Zhao Y, Mahnkopf C, Wegscheider K, Marrouche NF
JACC Clin Electrophysiol 2021 May;7(5):594-603. Epub 2021 Feb 24 doi: 10.1016/j.jacep.2020.11.021. PMID: 33640355
Packer DL, Mark DB, Robb RA, Monahan KH, Bahnson TD, Poole JE, Noseworthy PA, Rosenberg YD, Jeffries N, Mitchell LB, Flaker GC, Pokushalov E, Romanov A, Bunch TJ, Noelker G, Ardashev A, Revishvili A, Wilber DJ, Cappato R, Kuck KH, Hindricks G, Davies DW, Kowey PR, Naccarelli GV, Reiffel JA, Piccini JP, Silverstein AP, Al-Khalidi HR, Lee KL; CABANA Investigators
JAMA 2019 Apr 2;321(13):1261-1274. doi: 10.1001/jama.2019.0693. PMID: 30874766Free PMC Article

Prognosis

Escudero-Martínez I, Morales-Caba L, Segura T
Trends Cardiovasc Med 2023 Jan;33(1):23-29. Epub 2021 Dec 7 doi: 10.1016/j.tcm.2021.12.001. PMID: 34890796
Roberts JD, Vittinghoff E, Lu AT, Alonso A, Wang B, Sitlani CM, Mohammadi-Shemirani P, Fornage M, Kornej J, Brody JA, Arking DE, Lin H, Heckbert SR, Prokic I, Ghanbari M, Skanes AC, Bartz TM, Perez MV, Taylor KD, Lubitz SA, Ellinor PT, Lunetta KL, Pankow JS, Paré G, Sotoodehnia N, Benjamin EJ, Horvath S, Marcus GM
Circulation 2021 Dec 14;144(24):1899-1911. Epub 2021 Sep 30 doi: 10.1161/CIRCULATIONAHA.121.056456. PMID: 34587750Free 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
Pisters R, Lane DA, Nieuwlaat R, de Vos CB, Crijns HJ, Lip GY
Chest 2010 Nov;138(5):1093-100. Epub 2010 Mar 18 doi: 10.1378/chest.10-0134. PMID: 20299623
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

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
Matusik PT, Heleniak Z, Undas A
Anatol J Cardiol 2022 Dec;26(12):857-863. doi: 10.5152/AnatolJCardiol.2022.2426. PMID: 36444964Free PMC Article
Sánchez FJ, Pueyo E, Diez ER
Int J Mol Sci 2022 Jan 25;23(3) doi: 10.3390/ijms23031355. PMID: 35163278Free PMC Article
O'Neill L, Harrison J, O'Neill M, Williams SE
Expert Rev Cardiovasc Ther 2017 Apr;15(4):289-305. Epub 2017 Mar 17 doi: 10.1080/14779072.2017.1303378. PMID: 28267401
Xu J, Yang L, Zhang Q, Li S, Qiao Z, Fang Y, Zhao G, Wang Q, Liu G
Int Heart J 2015;56(5):500-4. Epub 2015 Sep 11 doi: 10.1536/ihj.15-039. PMID: 26370369

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
Niforatos JD, Ehmann MR, Balhara KS, Hinson JS, Ramcharran L, Lobner K, Weygandt PL
Acad Emerg Med 2023 Feb;30(2):124-132. Epub 2022 Dec 5 doi: 10.1111/acem.14618. PMID: 36326565
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
Su X, Yan B, Wang L, Lv J, Cheng H, Chen Y
Am J Kidney Dis 2021 Nov;78(5):678-689.e1. Epub 2021 Apr 16 doi: 10.1053/j.ajkd.2021.02.328. PMID: 33872690
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

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    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.
    • Bookshelf
      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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