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Atrial fibrillation, familial, 11(ATFB11)

MedGen UID:
481323
Concept ID:
C3279693
Disease or Syndrome
Synonyms: ATFB11; GJA5-Related Familial Atrial Fibrillation
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): GJA5 (1q21.2)
 
Monarch Initiative: MONDO:0013544
OMIM®: 614049

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
Atrial fibrillation
MedGen UID:
445
Concept ID:
C0004238
Finding
A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)

Recent clinical studies

Etiology

Wu SH, Wang XH, Xu YJ, Gu JN, Yang CX, Qiao Q, Guo XJ, Guo YH, Qiu XB, Jiang WF, Yang YQ
Eur J Med Genet 2020 Nov;63(11):104029. Epub 2020 Aug 6 doi: 10.1016/j.ejmg.2020.104029. PMID: 32771629
Butters A, Isbister JC, Medi C, Raju H, Turner C, Sy RW, Semsarian C, Ingles J
J Cardiovasc Electrophysiol 2020 Feb;31(2):465-473. Epub 2020 Jan 16 doi: 10.1111/jce.14346. PMID: 31930598
De With RR, Marcos EG, Van Gelder IC, Rienstra M
Europace 2018 Nov 1;20(11):1750-1757. doi: 10.1093/europace/euy028. PMID: 29518195
Hovland A, Mundal LJ, Igland J, Veierød MB, Holven KB, Bogsrud MP, Tell GS, Leren TP, Retterstøl K
Atherosclerosis 2017 Nov;266:69-73. Epub 2017 Sep 28 doi: 10.1016/j.atherosclerosis.2017.09.027. PMID: 28992466
Gundlund A, Olesen JB, Staerk L, Lee C, Piccini JP, Peterson ED, Køber L, Torp-Pedersen C, Gislason GH, Fosbøl EL
J Am Heart Assoc 2016 Nov 19;5(11) doi: 10.1161/JAHA.116.003836. PMID: 27866162Free PMC Article

Diagnosis

Yoo DH, Bodmer R, Ocorr K, Larson CJ, Colas AR, Muse ED
Curr Cardiol Rep 2021 Oct 1;23(11):164. doi: 10.1007/s11886-021-01597-x. PMID: 34599422
De With RR, Marcos EG, Van Gelder IC, Rienstra M
Europace 2018 Nov 1;20(11):1750-1757. doi: 10.1093/europace/euy028. PMID: 29518195
Hovland A, Mundal LJ, Igland J, Veierød MB, Holven KB, Bogsrud MP, Tell GS, Leren TP, Retterstøl K
Atherosclerosis 2017 Nov;266:69-73. Epub 2017 Sep 28 doi: 10.1016/j.atherosclerosis.2017.09.027. PMID: 28992466
Gundlund A, Olesen JB, Staerk L, Lee C, Piccini JP, Peterson ED, Køber L, Torp-Pedersen C, Gislason GH, Fosbøl EL
J Am Heart Assoc 2016 Nov 19;5(11) doi: 10.1161/JAHA.116.003836. PMID: 27866162Free PMC Article
Zöller B, Ohlsson H, Sundquist J, Sundquist K
J Am Heart Assoc 2012 Dec 31;2(1):e003384. doi: 10.1161/JAHA.112.003384. PMID: 23525409Free PMC Article

Therapy

Yoo DH, Bodmer R, Ocorr K, Larson CJ, Colas AR, Muse ED
Curr Cardiol Rep 2021 Oct 1;23(11):164. doi: 10.1007/s11886-021-01597-x. PMID: 34599422
Benzoni P, Campostrini G, Landi S, Bertini V, Marchina E, Iascone M, Ahlberg G, Olesen MS, Crescini E, Mora C, Bisleri G, Muneretto C, Ronca R, Presta M, Poliani PL, Piovani G, Verardi R, Di Pasquale E, Consiglio A, Raya A, Torre E, Lodrini AM, Milanesi R, Rocchetti M, Baruscotti M, DiFrancesco D, Memo M, Barbuti A, Dell'Era P
Cardiovasc Res 2020 May 1;116(6):1147-1160. doi: 10.1093/cvr/cvz217. PMID: 31504264Free PMC Article
Drabkin M, Zilberberg N, Menahem S, Mulla W, Halperin D, Yogev Y, Wormser O, Perez Y, Kadir R, Etzion Y, Katz A, Birk OS
Circ Genom Precis Med 2018 Nov;11(11):e002293. doi: 10.1161/CIRCGEN.118.002293. PMID: 30571183
De With RR, Marcos EG, Van Gelder IC, Rienstra M
Europace 2018 Nov 1;20(11):1750-1757. doi: 10.1093/europace/euy028. PMID: 29518195
Christophersen IE, Budtz-Jørgensen E, Olesen MS, Haunsø S, Christensen K, Svendsen JH
Circ Arrhythm Electrophysiol 2013 Feb;6(1):10-5. Epub 2012 Dec 19 doi: 10.1161/CIRCEP.112.971580. PMID: 23255276

Prognosis

Butters A, Isbister JC, Medi C, Raju H, Turner C, Sy RW, Semsarian C, Ingles J
J Cardiovasc Electrophysiol 2020 Feb;31(2):465-473. Epub 2020 Jan 16 doi: 10.1111/jce.14346. PMID: 31930598
De With RR, Marcos EG, Van Gelder IC, Rienstra M
Europace 2018 Nov 1;20(11):1750-1757. doi: 10.1093/europace/euy028. PMID: 29518195
Hovland A, Mundal LJ, Igland J, Veierød MB, Holven KB, Bogsrud MP, Tell GS, Leren TP, Retterstøl K
Atherosclerosis 2017 Nov;266:69-73. Epub 2017 Sep 28 doi: 10.1016/j.atherosclerosis.2017.09.027. PMID: 28992466
Fauchier L, Bisson A, Clementy N
J Am Heart Assoc 2016 Nov 19;5(11) doi: 10.1161/JAHA.116.004905. PMID: 27866163Free PMC Article
Gundlund A, Olesen JB, Staerk L, Lee C, Piccini JP, Peterson ED, Køber L, Torp-Pedersen C, Gislason GH, Fosbøl EL
J Am Heart Assoc 2016 Nov 19;5(11) doi: 10.1161/JAHA.116.003836. PMID: 27866162Free PMC Article

Clinical prediction guides

Yoo DH, Bodmer R, Ocorr K, Larson CJ, Colas AR, Muse ED
Curr Cardiol Rep 2021 Oct 1;23(11):164. doi: 10.1007/s11886-021-01597-x. PMID: 34599422
Butters A, Isbister JC, Medi C, Raju H, Turner C, Sy RW, Semsarian C, Ingles J
J Cardiovasc Electrophysiol 2020 Feb;31(2):465-473. Epub 2020 Jan 16 doi: 10.1111/jce.14346. PMID: 31930598
Benzoni P, Campostrini G, Landi S, Bertini V, Marchina E, Iascone M, Ahlberg G, Olesen MS, Crescini E, Mora C, Bisleri G, Muneretto C, Ronca R, Presta M, Poliani PL, Piovani G, Verardi R, Di Pasquale E, Consiglio A, Raya A, Torre E, Lodrini AM, Milanesi R, Rocchetti M, Baruscotti M, DiFrancesco D, Memo M, Barbuti A, Dell'Era P
Cardiovasc Res 2020 May 1;116(6):1147-1160. doi: 10.1093/cvr/cvz217. PMID: 31504264Free PMC Article
Hovland A, Mundal LJ, Igland J, Veierød MB, Holven KB, Bogsrud MP, Tell GS, Leren TP, Retterstøl K
Atherosclerosis 2017 Nov;266:69-73. Epub 2017 Sep 28 doi: 10.1016/j.atherosclerosis.2017.09.027. PMID: 28992466
Gundlund A, Olesen JB, Staerk L, Lee C, Piccini JP, Peterson ED, Køber L, Torp-Pedersen C, Gislason GH, Fosbøl EL
J Am Heart Assoc 2016 Nov 19;5(11) doi: 10.1161/JAHA.116.003836. PMID: 27866162Free PMC Article

Recent systematic reviews

Ibrahim OA, Belley-Côté EP, Um KJ, Baranchuk A, Benz AP, Dalmia S, Wang CN, Alhazzani W, Conen D, Devereaux PJ, Whitlock RP, Healey JS, McIntyre WF
Europace 2021 Aug 6;23(8):1200-1210. doi: 10.1093/europace/euab014. PMID: 33723602
Hall A, Mitchell ARJ, Wood L, Holland C
Medicine (Baltimore) 2020 Jul 24;99(30):e21388. doi: 10.1097/MD.0000000000021388. PMID: 32791751Free PMC Article
Zhang J, Zheng R, Li H, Guo J
Clin Exp Pharmacol Physiol 2020 Nov;47(11):1774-1782. Epub 2020 Aug 6 doi: 10.1111/1440-1681.13374. PMID: 32621546
Chen YH, Lin H, Wang Q, Hou JW, Li YG
Heart Lung Circ 2020 Mar;29(3):422-436. Epub 2019 Apr 19 doi: 10.1016/j.hlc.2019.01.018. PMID: 31072768
Valembois L, Audureau E, Takeda A, Jarzebowski W, Belmin J, Lafuente-Lafuente C
Cochrane Database Syst Rev 2019 Sep 4;9:CD005049. doi: 10.1002/14651858.CD005049.pub5. PMID: 31483500Free PMC Article

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