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Familial atrial fibrillation

MedGen UID:
894635
•Concept ID:
C3468561
•
Pathologic Function
Synonyms: Atrial Fibrillation, Familial; Atrial Fibrillations, Familial; Familial Atrial Fibrillation; Familial Atrial Fibrillations; Fibrillation, Familial Atrial; Fibrillations, Familial Atrial
SNOMED CT: Familial atrial fibrillation (715395008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
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.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018054
OMIM® Phenotypic series: PS608583
Orphanet: ORPHA334

Definition

Inherited atrial fibrillation that is not due to a structural abnormality or secondary cause. The condition usually occurs in people under 60 years of age. [from SNOMEDCT_US]

Professional guidelines

PubMed

Short QT syndrome. Genotype-phenotype correlations.
Borggrefe M, Wolpert C, Antzelevitch C, Veltmann C, Giustetto C, Gaita F, Schimpf R
J Electrocardiol 2005 Oct;38(4 Suppl):75-80. doi: 10.1016/j.jelectrocard.2005.06.009. PMID: 16226079Free PMC Article
Clinical characteristics and treatment of short QT syndrome.
Wolpert C, Schimpf R, Veltmann C, Giustetto C, Gaita F, Borggrefe M
Expert Rev Cardiovasc Ther 2005 Jul;3(4):611-7. doi: 10.1586/14779072.3.4.611. PMID: 16076272

Curated

UK NICE Diagnostics Guidance DG41, Implantable cardiac monitors to detect atrial fibrillation after cryptogenic stroke, 2020

Recent clinical studies

Etiology

Connexin45 (GJC1) loss-of-function mutation contributes to familial atrial fibrillation and conduction disease.
Li RG, Xu YJ, Ye WG, Li YJ, Chen H, Qiu XB, Yang YQ, Bai D
Heart Rhythm 2021 May;18(5):684-693. Epub 2021 Jan 9 doi: 10.1016/j.hrthm.2020.12.033. PMID: 33429106
Clinical profile and outcome of familial versus non-familial atrial fibrillation.
Heidarali M, Bakhshandeh H, Fazelifar A, Haghjoo M
Int J Cardiol 2020 Sep 1;314:70-74. Epub 2020 Apr 1 doi: 10.1016/j.ijcard.2020.03.080. PMID: 32273045
Prognosis in Familial Atrial Fibrillation.
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
Potassium-channel mutations and cardiac arrhythmias--diagnosis and therapy.
Giudicessi JR, Ackerman MJ
Nat Rev Cardiol 2012 Jan 31;9(6):319-32. doi: 10.1038/nrcardio.2012.3. PMID: 22290238Free PMC Article
The genetics of cardiac arrhythmias.
Beery TT
Biol Res Nurs 2005 Apr;6(4):249-61. doi: 10.1177/1099800404273840. PMID: 15788734

Diagnosis

Clinical profile and outcome of familial versus non-familial atrial fibrillation.
Heidarali M, Bakhshandeh H, Fazelifar A, Haghjoo M
Int J Cardiol 2020 Sep 1;314:70-74. Epub 2020 Apr 1 doi: 10.1016/j.ijcard.2020.03.080. PMID: 32273045
Putative role of Brugada syndrome genes in familial atrial fibrillation.
Maltese PE, Aldanova E, Kriuchkova N, Averianov A, Manara E, Paolacci S, Bruson A, Miotto R, Sartori M, Guerri G, Zuntini M, Marceddu G, Tezzele S, Tadtaeva K, Chernova A, Aksyutina N, Nikulina S, Nodari S, Bertelli M
Eur Rev Med Pharmacol Sci 2019 Sep;23(17):7582-7598. doi: 10.26355/eurrev_201909_18880. PMID: 31539150
Characteristics of atrial fibrillation and comorbidities in familial atrial fibrillation.
Jurkko R, Palojoki E, Huttunen H, Holm C, Lehto M, Heliö T, Swan H, Toivonen L
J Cardiovasc Electrophysiol 2013 Jul;24(7):768-74. Epub 2013 Mar 29 doi: 10.1111/jce.12127. PMID: 23551519
Potassium-channel mutations and cardiac arrhythmias--diagnosis and therapy.
Giudicessi JR, Ackerman MJ
Nat Rev Cardiol 2012 Jan 31;9(6):319-32. doi: 10.1038/nrcardio.2012.3. PMID: 22290238Free PMC Article
The genetics of cardiac arrhythmias.
Beery TT
Biol Res Nurs 2005 Apr;6(4):249-61. doi: 10.1177/1099800404273840. PMID: 15788734

Therapy

Familial atrial fibrillation predicts increased risk of mortality: a study in Danish twins.
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
A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation.
Benito B, Brugada R, Perich RM, Lizotte E, Cinca J, Mont L, Berruezo A, Tolosana JM, Freixa X, Brugada P, Brugada J
Heart Rhythm 2008 Oct;5(10):1434-40. Epub 2008 Jul 19 doi: 10.1016/j.hrthm.2008.07.013. PMID: 18929331
Short QT syndrome. Genotype-phenotype correlations.
Borggrefe M, Wolpert C, Antzelevitch C, Veltmann C, Giustetto C, Gaita F, Schimpf R
J Electrocardiol 2005 Oct;38(4 Suppl):75-80. doi: 10.1016/j.jelectrocard.2005.06.009. PMID: 16226079Free PMC Article
Prolonged atrial action potential durations and polymorphic atrial tachyarrhythmias in patients with long QT syndrome.
Kirchhof P, Eckardt L, Franz MR, Mönnig G, Loh P, Wedekind H, Schulze-Bahr E, Breithardt G, Haverkamp W
J Cardiovasc Electrophysiol 2003 Oct;14(10):1027-33. doi: 10.1046/j.1540-8167.2003.03165.x. PMID: 14521653
Familial atrial fibrillation with fetal onset.
Tikanoja T, Kirkinen P, Nikolajev K, Eresmaa L, Haring P
Heart 1998 Feb;79(2):195-7. doi: 10.1136/hrt.79.2.195. PMID: 9538316Free PMC Article

Prognosis

Prognosis in Familial Atrial Fibrillation.
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
Whole-exome sequencing in familial atrial fibrillation.
Weeke P, Muhammad R, Delaney JT, Shaffer C, Mosley JD, Blair M, Short L, Stubblefield T, Roden DM, Darbar D; National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project
Eur Heart J 2014 Sep 21;35(36):2477-83. Epub 2014 Apr 11 doi: 10.1093/eurheartj/ehu156. PMID: 24727801Free PMC Article
Potassium-channel mutations and cardiac arrhythmias--diagnosis and therapy.
Giudicessi JR, Ackerman MJ
Nat Rev Cardiol 2012 Jan 31;9(6):319-32. doi: 10.1038/nrcardio.2012.3. PMID: 22290238Free PMC Article
Connexin40 nonsense mutation in familial atrial fibrillation.
Yang YQ, Zhang XL, Wang XH, Tan HW, Shi HF, Jiang WF, Fang WY, Liu X
Int J Mol Med 2010 Oct;26(4):605-10. doi: 10.3892/ijmm_00000505. PMID: 20818502
Genetics of familial atrial fibrillation.
Campuzano O, Brugada R
Europace 2009 Oct;11(10):1267-71. Epub 2009 Aug 6 doi: 10.1093/europace/eup199. PMID: 19666641

Clinical prediction guides

PRRX1 Loss-of-Function Mutations Underlying Familial Atrial Fibrillation.
Guo XJ, Qiu XB, Wang J, Guo YH, Yang CX, Li L, Gao RF, Ke ZP, Di RM, Sun YM, Xu YJ, Yang YQ
J Am Heart Assoc 2021 Dec 7;10(23):e023517. Epub 2021 Nov 30 doi: 10.1161/JAHA.121.023517. PMID: 34845933Free PMC Article
Connexin45 (GJC1) loss-of-function mutation contributes to familial atrial fibrillation and conduction disease.
Li RG, Xu YJ, Ye WG, Li YJ, Chen H, Qiu XB, Yang YQ, Bai D
Heart Rhythm 2021 May;18(5):684-693. Epub 2021 Jan 9 doi: 10.1016/j.hrthm.2020.12.033. PMID: 33429106
Whole-exome sequencing in familial atrial fibrillation.
Weeke P, Muhammad R, Delaney JT, Shaffer C, Mosley JD, Blair M, Short L, Stubblefield T, Roden DM, Darbar D; National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project
Eur Heart J 2014 Sep 21;35(36):2477-83. Epub 2014 Apr 11 doi: 10.1093/eurheartj/ehu156. PMID: 24727801Free PMC Article
Characteristics of atrial fibrillation and comorbidities in familial atrial fibrillation.
Jurkko R, Palojoki E, Huttunen H, Holm C, Lehto M, Heliö T, Swan H, Toivonen L
J Cardiovasc Electrophysiol 2013 Jul;24(7):768-74. Epub 2013 Mar 29 doi: 10.1111/jce.12127. PMID: 23551519
Potassium-channel mutations and cardiac arrhythmias--diagnosis and therapy.
Giudicessi JR, Ackerman MJ
Nat Rev Cardiol 2012 Jan 31;9(6):319-32. doi: 10.1038/nrcardio.2012.3. PMID: 22290238Free PMC Article

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    Curated

    • NICE, 2020
      UK NICE Diagnostics Guidance DG41, Implantable cardiac monitors to detect atrial fibrillation after cryptogenic stroke, 2020

    Reviews

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