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Genetics Home Reference: your guide to understanding genetic conditions
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Jervell and Lange-Nielsen syndrome

Reviewed April 2006

What is Jervell and Lange-Nielsen syndrome?

Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. Beginning in early childhood, the irregular heartbeats increase the risk of fainting (syncope) and sudden death.

How common is Jervell and Lange-Nielsen syndrome?

Jervell and Lange-Nielsen syndrome is uncommon; it affects an estimated 1.6 to 6 per 1 million people worldwide. This condition has a higher prevalence in Denmark, where it affects at least 1 in 200,000 people.

What genes are related to Jervell and Lange-Nielsen syndrome?

Mutations in the KCNE1 and KCNQ1 genes cause Jervell and Lange-Nielsen syndrome.

The KCNE1 and KCNQ1 genes provide instructions for making proteins that work together to form a channel across cell membranes. These channels transport positively charged potassium atoms (ions) out of cells. The movement of potassium ions through these channels is critical for maintaining the normal functions of inner ear structures and cardiac muscle.

About 90 percent of cases of Jervell and Lange-Nielsen syndrome are caused by mutations in the KCNQ1 gene; KCNE1 mutations are responsible for the remaining cases. Mutations in these genes alter the usual structure and function of potassium channels or prevent the assembly of normal channels. These changes disrupt the flow of potassium ions in the inner ear and in cardiac muscle, leading to hearing loss and an irregular heart rhythm characteristic of Jervell and Lange-Nielsen syndrome.

Related Gene(s)

Changes in these genes are associated with Jervell and Lange-Nielsen syndrome.

  • KCNE1
  • KCNQ1

How do people inherit Jervell and Lange-Nielsen syndrome?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of a child with an autosomal recessive disorder are not affected, but are carriers of one copy of the mutated gene. Some carriers of a KCNQ1 or KCNE1 mutation have signs and symptoms affecting the heart, but their hearing is usually normal.

Where can I find information about diagnosis or management of Jervell and Lange-Nielsen syndrome?

These resources address the diagnosis or management of Jervell and Lange-Nielsen syndrome and may include treatment providers.

  • Gene Review: Jervell and Lange-Nielsen Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1405/)
  • Genetic Testing Registry: Jervell and Lange-Nielson syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0022387)
  • MedlinePlus Encyclopedia: Arrhythmias (http://www.nlm.nih.gov/medlineplus/ency/article/001101.htm)

You might also find information on the diagnosis or management of Jervell and Lange-Nielsen syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/jervell-and-lange-nielsen-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/jervell-and-lange-nielsen-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Jervell and Lange-Nielsen syndrome?

You may find the following resources about Jervell and Lange-Nielsen syndrome helpful. These materials are written for the general public.

  • MedlinePlus - Health information

    • Encyclopedia: Arrhythmias (http://www.nlm.nih.gov/medlineplus/ency/article/001101.htm)
    • Health Topic: Arrhythmia (http://www.nlm.nih.gov/medlineplus/arrhythmia.html)
    • Health Topic: Congenital Heart Defects (http://www.nlm.nih.gov/medlineplus/congenitalheartdefects.html)
    • Health Topic: Hearing Disorders and Deafness (http://www.nlm.nih.gov/medlineplus/hearingdisordersanddeafness.html)
  • Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases (http://rarediseases.info.nih.gov/gard/3048/resources/resources/1)
  • Additional NIH Resources - National Institutes of Health
    National Heart, Lung, and Blood Institute (http://www.nhlbi.nih.gov/health/health-topics/topics/qt/)

  • Educational resources - Information pages

    • American Heart Association (http://www.heart.org/HEARTORG/Conditions/Arrhythmia/AboutArrhythmia/Types-of-Arrhythmia-in-Children_UCM_302023_Article.jsp)
    • Centre for Genetics Education (Australia) (http://www.genetics.edu.au/Information/Genetics-Fact-Sheets/FS55KBS.pdf)
    • Cleveland Clinic (http://my.clevelandclinic.org/heart/disorders/electric/longqtsyndrome.aspx)
    • KidsHealth from the Nemours Foundation (http://kidshealth.org/teen/diseases_conditions/heart/arrhythmias.html)
    • Madisons Foundation (http://www.madisonsfoundation.org/index.php?option=com_mpower&task=disease&diseaseID=555)
    • Mayo Clinic (http://www.mayoclinic.org/long-qt-syndrome/)
    • Merck Manual Home Edition for Patients and Caregivers: Long QT Syndrome (http://www.merckmanuals.com/home/childrens_health_issues/chromosomal_and_genetic_abnormalities/long_qt_syndrome.html)
    • Mount Sinai School of Medicine (http://www.mountsinaifpa.org/patient-care/health-library/diseases-and-conditions/arrhythmias)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=768)

  • Patient support - For patients and families

    • American Speech-Language-Hearing Association (http://www.asha.org/default.htm)
    • Congenital Heart Information Network (http://tchin.org/)
    • National Association of the Deaf (http://www.nad.org/)
    • National Organization for Rare Disorders (http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/852/viewAbstract)
    • QTsyndrome.ch (European Long QT Syndrome Information Center) (http://www.qtsyndrome.ch/)
    • Resource list from the University of Kansas Medical Center (http://www.kumc.edu/gec/support/conghart.html)
    • Sudden Arrhythmia Death Syndromes (SADS) Foundation (http://www.sads.org/)

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

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1405/)

  • Genetic Testing Registry - Repository of genetic test information

    • Genetic Testing Registry: Jervell and Lange-Nielson syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0022387)

  • ACT Sheets - Newborn screening follow up

    • Congenital hearing loss >~30db (http://www.ncbi.nlm.nih.gov/books/NBK55827/bin/Hearing_Loss.pdf)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/ct2/results?cond=%22Jervell%20and%20Lange-Nielsen%20syndrome%22%20OR%20%22Long%20QT%20Syndrome%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(Jervell%20and%20Lange-Nielsen%20syndrome%5BTIAB%5D)%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%202160%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/220400)

What other names do people use for Jervell and Lange-Nielsen syndrome?

  • Cardio-auditory-syncope syndrome
  • Cardioauditory syndrome of Jervell and Lange-Nielsen
  • Jervell-Lange Nielsen Syndrome
  • JLNS
  • Surdo-cardiac syndrome

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and 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 Jervell and Lange-Nielsen syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Jervell and Lange-Nielsen syndrome?

arrhythmia ; auditory ; autosomal ; autosomal recessive ; cardiac ; cardio- ; cell ; channel ; fainting ; gene ; ions ; long QT syndrome ; LQTS ; mutation ; potassium ; prevalence ; recessive ; syncope ; syndrome

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

References

  • Chiang CE. Congenital and acquired long QT syndrome. Current concepts and management. Cardiol Rev. 2004 Jul-Aug;12(4):222-34. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15191637?dopt=Abstract)
  • Emery, Alan E H; Rimoin, David L; Emery & Rimoin's principles and practice of medical genetics.; 4th ed. / edited by David L. Rimoin ... [et al.]; London ; New York : Churchill Livingstone, 2002. p1424-1426.
  • Gene Review: Jervell and Lange-Nielsen Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1405/)
  • Modell SM, Lehmann MH. The long QT syndrome family of cardiac ion channelopathies: a HuGE review. Genet Med. 2006 Mar;8(3):143-55. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16540748?dopt=Abstract)
  • Schwartz PJ, Spazzolini C, Crotti L, Bathen J, Amlie JP, Timothy K, Shkolnikova M, Berul CI, Bitner-Glindzicz M, Toivonen L, Horie M, Schulze-Bahr E, Denjoy I. The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome. Circulation. 2006 Feb 14;113(6):783-90. Epub 2006 Feb 6. (http://www.ncbi.nlm.nih.gov/pubmed/16461811?dopt=Abstract)
  • Towbin JA, Vatta M. Molecular biology and the prolonged QT syndromes. Am J Med. 2001 Apr 1;110(5):385-98. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11286954?dopt=Abstract)
  • Vincent GM. The Long QT and Brugada syndromes: causes of unexpected syncope and sudden cardiac death in children and young adults. Semin Pediatr Neurol. 2005 Mar;12(1):15-24. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15929461?dopt=Abstract)
  • Wang Z, Li H, Moss AJ, Robinson J, Zareba W, Knilans T, Bowles NE, Towbin JA. Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome. Mol Genet Metab. 2002 Apr;75(4):308-16. (http://www.ncbi.nlm.nih.gov/pubmed/12051962?dopt=Abstract)

 

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: April 2006
Published: June 17, 2013