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Atrial fibrillation, familial, 12(ATFB12)

MedGen UID:
481325
Concept ID:
C3279695
Disease or Syndrome
Synonyms: ABCC9-Related Familial Atrial Fibrillation; ATFB12
 
Gene (location): ABCC9 (12p12.1)
 
Monarch Initiative: MONDO:0013545
OMIM®: 614050

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
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.

Professional guidelines

PubMed

Hindricks G, Potpara T, Dagres N, Arbelo E, Bax JJ, Blomström-Lundqvist C, Boriani G, Castella M, Dan GA, Dilaveris PE, Fauchier L, Filippatos G, Kalman JM, La Meir M, Lane DA, Lebeau JP, Lettino M, Lip GYH, Pinto FJ, Thomas GN, Valgimigli M, Van Gelder IC, Van Putte BP, Watkins CL; ESC Scientific Document Group
Eur Heart J 2021 Feb 1;42(5):373-498. doi: 10.1093/eurheartj/ehaa612. PMID: 32860505
Andrade JG, Aguilar M, Atzema C, Bell A, Cairns JA, Cheung CC, Cox JL, Dorian P, Gladstone DJ, Healey JS, Khairy P, Leblanc K, McMurtry MS, Mitchell LB, Nair GM, Nattel S, Parkash R, Pilote L, Sandhu RK, Sarrazin JF, Sharma M, Skanes AC, Talajic M, Tsang TSM, Verma A, Verma S, Whitlock R, Wyse DG, Macle L; Members of the Secondary Panel
Can J Cardiol 2020 Dec;36(12):1847-1948. Epub 2020 Oct 22 doi: 10.1016/j.cjca.2020.09.001. PMID: 33191198
Gutierrez C, Blanchard DG
Am Fam Physician 2016 Sep 15;94(6):442-52. PMID: 27637120

Curated

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

Recent clinical studies

Etiology

Gaudino M, Di Franco A, Rong LQ, Piccini J, Mack M
Eur Heart J 2023 Mar 21;44(12):1020-1039. doi: 10.1093/eurheartj/ehad019. PMID: 36721960Free PMC Article
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
Bode W, Ptaszek LM
Curr Cardiol Rep 2021 Oct 16;23(12):179. doi: 10.1007/s11886-021-01611-2. PMID: 34657210
Hindricks G, Potpara T, Dagres N, Arbelo E, Bax JJ, Blomström-Lundqvist C, Boriani G, Castella M, Dan GA, Dilaveris PE, Fauchier L, Filippatos G, Kalman JM, La Meir M, Lane DA, Lebeau JP, Lettino M, Lip GYH, Pinto FJ, Thomas GN, Valgimigli M, Van Gelder IC, Van Putte BP, Watkins CL; ESC Scientific Document Group
Eur Heart J 2021 Feb 1;42(5):373-498. doi: 10.1093/eurheartj/ehaa612. PMID: 32860505
Gutierrez C, Blanchard DG
Am Fam Physician 2016 Sep 15;94(6):442-52. PMID: 27637120

Diagnosis

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
Erhard N, Metzner A, Fink T
Herzschrittmacherther Elektrophysiol 2022 Mar;33(1):71-76. Epub 2022 Jan 10 doi: 10.1007/s00399-021-00836-6. PMID: 35006336Free PMC Article
Hindricks G, Potpara T, Dagres N, Arbelo E, Bax JJ, Blomström-Lundqvist C, Boriani G, Castella M, Dan GA, Dilaveris PE, Fauchier L, Filippatos G, Kalman JM, La Meir M, Lane DA, Lebeau JP, Lettino M, Lip GYH, Pinto FJ, Thomas GN, Valgimigli M, Van Gelder IC, Van Putte BP, Watkins CL; ESC Scientific Document Group
Eur Heart J 2021 Feb 1;42(5):373-498. doi: 10.1093/eurheartj/ehaa612. PMID: 32860505
Gutierrez C, Blanchard DG
Am Fam Physician 2016 Sep 15;94(6):442-52. PMID: 27637120
Beigel R, Wunderlich NC, Ho SY, Arsanjani R, Siegel RJ
JACC Cardiovasc Imaging 2014 Dec;7(12):1251-65. doi: 10.1016/j.jcmg.2014.08.009. PMID: 25496544

Therapy

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
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
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
Seccia TM, Caroccia B, Maiolino G, Cesari M, Rossi GP
Curr Hypertens Rep 2019 Nov 18;21(12):94. doi: 10.1007/s11906-019-1001-4. PMID: 31741119

Prognosis

Erhard N, Metzner A, Fink T
Herzschrittmacherther Elektrophysiol 2022 Mar;33(1):71-76. Epub 2022 Jan 10 doi: 10.1007/s00399-021-00836-6. PMID: 35006336Free PMC Article
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
Schnabel RB, Yin X, Gona P, Larson MG, Beiser AS, McManus DD, Newton-Cheh C, Lubitz SA, Magnani JW, Ellinor PT, Seshadri S, Wolf PA, Vasan RS, Benjamin EJ, Levy D
Lancet 2015 Jul 11;386(9989):154-62. Epub 2015 May 7 doi: 10.1016/S0140-6736(14)61774-8. PMID: 25960110Free PMC Article
Rich MW, Curtis AB
J Interv Card Electrophysiol 2009 Jun;25(1):1-2. Epub 2009 Mar 13 doi: 10.1007/s10840-008-9291-5. PMID: 19283460

Clinical prediction guides

Beyer C, Tokarska L, Stühlinger M, Feuchtner G, Hintringer F, Honold S, Fiedler L, Schönbauer MS, Schönbauer R, Plank F
JACC Cardiovasc Imaging 2021 Nov;14(11):2199-2208. Epub 2021 Jun 16 doi: 10.1016/j.jcmg.2021.04.027. PMID: 34147453
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
Wasserlauf J, You C, Patel R, Valys A, Albert D, Passman R
Circ Arrhythm Electrophysiol 2019 Jun;12(6):e006834. doi: 10.1161/CIRCEP.118.006834. PMID: 31113234
O'Neal WT, Venkatesh S, Broughton ST, Griffin WF, Soliman EZ
Vasc Health Risk Manag 2016;12:297-303. Epub 2016 Jul 18 doi: 10.2147/VHRM.S75537. PMID: 27486329Free PMC Article
Beigel R, Wunderlich NC, Ho SY, Arsanjani R, Siegel RJ
JACC Cardiovasc Imaging 2014 Dec;7(12):1251-65. doi: 10.1016/j.jcmg.2014.08.009. PMID: 25496544

Recent systematic reviews

van Veldhuisen SL, Gorter TM, van Woerden G, de Boer RA, Rienstra M, Hazebroek EJ, van Veldhuisen DJ
Eur Heart J 2022 May 21;43(20):1955-1969. doi: 10.1093/eurheartj/ehac071. PMID: 35243488Free PMC Article
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
Eikelboom R, Sanjanwala R, Le ML, Yamashita MH, Arora RC
Ann Thorac Surg 2021 Feb;111(2):544-554. Epub 2020 Jul 17 doi: 10.1016/j.athoracsur.2020.05.104. PMID: 32687821
Welton NJ, McAleenan A, Thom HH, Davies P, Hollingworth W, Higgins JP, Okoli G, Sterne JA, Feder G, Eaton D, Hingorani A, Fawsitt C, Lobban T, Bryden P, Richards A, Sofat R
Health Technol Assess 2017 May;21(29):1-236. doi: 10.3310/hta21290. PMID: 28629510
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

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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