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Familial atrial fibrillation

Reviewed January 2007

What is familial atrial fibrillation?

Familial atrial fibrillation is an inherited condition that disrupts the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular. If untreated, this abnormal heart rhythm 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 familial atrial fibrillation can occur at any age, although some people with this heart condition never experience any health problems associated with the disorder.

How common is familial atrial fibrillation?

Atrial fibrillation is the most common type of sustained abnormal heart rhythm (arrhythmia), affecting more than 3 million people in the United States. The risk of developing this irregular heart rhythm increases with age. The incidence of the familial form of atrial fibrillation is unknown; however, recent studies suggest that up to 30 percent of all people with atrial fibrillation may have a history of the condition in their family.

What genes are related to familial atrial fibrillation?

Mutations in the KCNQ1 gene cause familial atrial fibrillation.

The KCNE2 and KCNJ2 genes are associated with familial atrial fibrillation.

A small percentage of all cases of familial atrial fibrillation are associated with changes in the KCNE2, KCNJ2, and KCNQ1 genes. These genes provide instructions for making proteins that act as channels across the cell membrane. These channels transport positively charged atoms (ions) of potassium into and out of cells. In heart (cardiac) muscle, the ion channels produced from the KCNE2, KCNJ2, and KCNQ1 genes play critical roles in maintaining the heart's normal rhythm. Mutations in these genes have been identified in only a few families worldwide. These mutations increase the activity of the channels, which changes the flow of potassium ions between cells. This disruption in ion transport alters the way the heart beats, increasing the risk of syncope, stroke, and sudden death.

Most cases of atrial fibrillation are not caused by mutations in a single gene. This condition is often related to structural abnormalities of the heart or underlying heart disease. Additional risk factors for atrial fibrillation include high blood pressure (hypertension), diabetes mellitus, a previous stroke, or an accumulation of fatty deposits and scar-like tissue in the lining of the arteries (atherosclerosis). Although most cases of atrial fibrillation are not known to run in families, studies suggest that they may arise partly from genetic risk factors. Researchers are working to determine which genetic changes may influence the risk of atrial fibrillation.

How do people inherit familial atrial fibrillation?

Familial atrial fibrillation appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Where can I find information about treatment for familial atrial fibrillation?

You may find information on treatment or management of familial atrial fibrillation or some of its symptoms in the links below, particularly the links for MedlinePlus Encyclopedia, Educational resources, and Patient support.

Where can I find additional information about familial atrial fibrillation?

You may find the following resources about familial atrial fibrillation helpful. These materials are written for the general public.

  • MedlinePlus - Health information
    • Encyclopedia: Arrhythmias (http://www.nlm.nih.gov/medlineplus/ency/article/001101.htm)
    • Encyclopedia: Atrial fibrillation/flutter (http://www.nlm.nih.gov/medlineplus/ency/article/000184.htm)
    • Health Topic: Atrial Fibrillation (http://www.nlm.nih.gov/medlineplus/atrialfibrillation.html)
  • Educational resources - Information pages
    • Children's Hospital Boston (http://www.childrenshospital.org/az/Site473/mainpageS473P0.html)
    • Cincinnati Children's Hospital Medical Center (http://www.cincinnatichildrens.org/health/heart-encyclopedia/disease/arrhythmia.htm)
    • Cleveland Clinic (http://www.clevelandclinic.org/heartcenter/pub/atrial_fibrillation/afib.htm)
    • Heart Rhythm Society (http://www.hrspatients.org/patients/heart_disorders/atrial_fibrillation/default.asp)
    • KidsHealth from the Nemours Foundation (http://kidshealth.org/teen/diseases_conditions/heart/arrhythmias.html)
    • Mayo Clinic (http://www.mayoclinic.org/atrial-fibrillation/index.html)
    • Merck Manual of Medical Information, Second Home Edition (http://www.merck.com/mmhe/sec03/ch027/ch027c.html)
    • Mount Sinai School of Medicine (http://www.mssm.edu/cvi/arrhythmia.shtml)
    • New York Online Access to Health (http://www.noah-health.org/en/blood/disease/specific/atrial.html)
    • NHS Direct (UK) (http://www.nhsdirect.nhs.uk/articles/article.aspx?articleId=39)
    • Penn State Children's Hospital (http://www.hmc.psu.edu/childrens/healthinfo/a/atrial.htm)
  • Patient support - For patients and families
    • American Heart Association (http://www.americanheart.org/presenter.jhtml?identifier=4451)
    • Atrial Fibrillation Foundation (http://www.affacts.org/)
    • Congenital Heart Information Network (http://tchin.org/)
    • Resource list from the University of Kansas Medical Center (http://www.kumc.edu/gec/support/conghart.html)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Tests - DNA tests ordered by healthcare professionals (http://www.genetests.org/query?testid=192541)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/search/condition=%22familial+atrial+fibrillation%22+OR+%22Atrial+Fibrillation%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=PubMed&term=((atrial+fibrillation[TIAB])+AND+(atrial+fibrillation[MAJR]))+AND+((familial[TIAB])+OR+(genetic[TIAB]))+AND+english[la]+AND+human[mh]&orig_db=PubMed&filters=ON&pmfilter_EDatLimit=1800+Days)
  • OMIM - Genetic disorder catalog
    • OMIM: Familial atrial fibrillation 1 (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607554)
    • OMIM: Familial atrial fibrillation 2 (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608583)
    • OMIM: Familial atrial fibrillation 3 (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=608988)

What other names do people use for familial atrial fibrillation?

  • Auricular Fibrillation

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about familial atrial fibrillation?

  • See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
  • Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
  • Submit your question to Ask the Geneticist (http://www.askthegen.org/).

What glossary definitions help with understanding familial atrial fibrillation?

arrhythmia ; artery ; atherosclerosis ; atom ; atrial ; atrial fibrillation ; atrium ; autosomal ; autosomal dominant ; cardiac ; cell ; cell membrane ; channel ; complication ; diabetes ; diabetes mellitus ; fainting ; familial ; fibrillation ; gene ; hypertension ; incidence ; ions ; ion transport ; mutation ; palpitations ; potassium ; protein ; risk factors ; syncope ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References
  • Brugada R. Is atrial fibrillation a genetic disease? J Cardiovasc Electrophysiol. 2005 May;16(5):553-6. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15877629)
  • Chen YH, Xu SJ, Bendahhou S, Wang XL, Wang Y, Xu WY, Jin HW, Sun H, Su XY, Zhuang QN, Yang YQ, Li YB, Liu Y, Xu HJ, Li XF, Ma N, Mou CP, Chen Z, Barhanin J, Huang W. KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science. 2003 Jan 10;299(5604):251-4. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=12522251)
  • Ellinor PT, Petrov-Kondratov VI, Zakharova E, Nam EG, MacRae CA. Potassium channel gene mutations rarely cause atrial fibrillation. BMC Med Genet. 2006 Aug 3;7:70. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16887036)
  • Roberts R. Mechanisms of disease: Genetic mechanisms of atrial fibrillation. Nat Clin Pract Cardiovasc Med. 2006 May;3(5):276-82. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16645668)
  • Wiesfeld AC, Hemels ME, Van Tintelen JP, Van den Berg MP, Van Veldhuisen DJ, Van Gelder IC. Genetic aspects of atrial fibrillation. Cardiovasc Res. 2005 Aug 15;67(3):414-8. Review. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15921669)
  • Xia M, Jin Q, Bendahhou S, He Y, Larroque MM, Chen Y, Zhou Q, Yang Y, Liu Y, Liu B, Zhu Q, Zhou Y, Lin J, Liang B, Li L, Dong X, Pan Z, Wang R, Wan H, Qiu W, Xu W, Eurlings P, Barhanin J, Chen Y. A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. Biochem Biophys Res Commun. 2005 Jul 15;332(4):1012-9. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15922306)
  • Yang Y, Xia M, Jin Q, Bendahhou S, Shi J, Chen Y, Liang B, Lin J, Liu Y, Liu B, Zhou Q, Zhang D, Wang R, Ma N, Su X, Niu K, Pei Y, Xu W, Chen Z, Wan H, Cui J, Barhanin J, Chen Y. Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. Am J Hum Genet. 2004 Nov;75(5):899-905. Epub 2004 Sep 13. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15368194)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2007
Published: May 4, 2009