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<span>Jervell and Lange-Nielsen syndrome</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/jervell-and-lange-nielsen-syndrome/</span>
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<h1>Jervell and Lange-Nielsen syndrome</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
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<h2>Description</h2>
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<section><div class="mp-content"><p>Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart's normal <a class="image-modal" data-alt="Illustration showing the segments of a normal heart rhythm as it appears on an electrocardiogram" data-caption="" data-credit="Tefi/Shutterstock.com" data-filepath="images/PX000134_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000134" data-sourceurl="" data-title="Normal heart rhythm, including the QT interval" href="https://medlineplus.gov/images/PX000134_PRESENTATION.jpeg" id="PX000134_1" title="Show image">rhythm<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the <a class="image-modal" data-alt="A cross-section of various structures that make up the normal heart." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0002LE_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0002LE" data-sourceurl="https://www.nlm.nih.gov/" data-title="Normal heart anatomy" href="https://medlineplus.gov/images/PX0002LE_PRESENTATION.jpeg" id="PX0002LE_2" title="Show image">heart (cardiac) muscle<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> 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.</p></div>
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</section>
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<div class="mp-exp exp-full" data-bookmark="frequency">
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<h2>Frequency</h2>
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<section><div class="mp-content"><p>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, Sweden, and Norway, where it affects at least 1 in 200,000 people.</p></div>
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</section>
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<div class="mp-exp exp-full" data-bookmark="causes">
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<h2>Causes</h2>
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<section><div class="mp-content"><p>Jervell and Lange-Nielsen syndrome is caused by mutations in the <i><a data-pid="17433" href="https://medlineplus.gov/genetics/gene/kcne1/">KCNE1</a></i> and <i><a data-pid="17431" href="https://medlineplus.gov/genetics/gene/kcnq1/">KCNQ1</a></i> genes. These genes provide instructions for making proteins that work together to form a <a class="image-modal" data-alt="Three generic ion channels embedded in a cell membrane." data-caption="The body uses a variety of ion channels to transport small molecules across cell membranes." data-credit="Judith Stoffer" data-filepath="images/PX0000DO_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000DO" data-sourceurl="https://images.nigms.nih.gov/Pages/DetailPage.aspx?imageID=76" data-title="Ion channels" href="https://medlineplus.gov/images/PX0000DO_PRESENTATION.jpeg" id="PX0000DO_3" title="Show image">channel<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> across <a class="image-modal" data-alt="The plasma membrane surrounds a cell." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX000094_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000094" data-sourceurl="" data-title="Plasma membrane" href="https://medlineplus.gov/images/PX000094_PRESENTATION.jpeg" id="PX000094_4" title="Show image">cell membranes<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. 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 <a class="image-modal" data-alt="Basic anatomy of the ear, from the outer ear to the inner ear" data-caption="" data-credit="Blamb/Shutterstock.com" data-filepath="images/PX000170_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000170" data-sourceurl="" data-title="Anatomy of a normal ear" href="https://medlineplus.gov/images/PX000170_PRESENTATION.jpeg" id="PX000170_5" title="Show image">inner ear structures<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> and <a class="image-modal" data-alt="A cross-section of various structures that make up the normal heart." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0002LE_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0002LE" data-sourceurl="https://www.nlm.nih.gov/" data-title="Normal heart anatomy" href="https://medlineplus.gov/images/PX0002LE_PRESENTATION.jpeg" id="PX0002LE_6" title="Show image">cardiac muscle<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>.</p><p>About 90 percent of cases of Jervell and Lange-Nielsen syndrome are caused by mutations in the <i>KCNQ1</i> gene; <i>KCNE1</i> 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.</p></div>
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</section>
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<section>
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<div class="related-genes mp-exp exp-full">
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<h3>Learn more about the genes associated with Jervell and Lange-Nielsen syndrome</h3>
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<ul class="relatedmp">
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<li><a href="https://medlineplus.gov/genetics/gene/kcne1/">KCNE1</a></li>
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<li><a href="https://medlineplus.gov/genetics/gene/kcnq1/">KCNQ1</a></li>
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</ul>
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</div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="inheritance">
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<h2>Inheritance</h2>
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<section><div class="mp- mp-content"><p>This condition is inherited in an <a class="image-modal" data-alt="Both parents carry one copy of a mutated gene. In the next generation, one child is affected with the condition, two children are carriers, and one is unaffected and not a carrier." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A4" data-sourceurl="" data-title="Autosomal recessive inheritance" href="https://medlineplus.gov/images/PX0000A4_PRESENTATION.jpeg" id="PX0000A4_1" title="Show image">autosomal recessive pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, 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 <i><a data-pid="17431" href="https://medlineplus.gov/genetics/gene/kcnq1/">KCNQ1</a></i> or <i><a data-pid="17433" href="https://medlineplus.gov/genetics/gene/kcne1/">KCNE1</a></i> mutation have a long QT interval with related heart abnormalities, but their hearing is normal.</p></div>
|
||
</section>
|
||
|
||
</div>
|
||
<div class="mp-exp exp-full" data-bookmark="synonyms">
|
||
<h2>Other Names for This Condition</h2>
|
||
|
||
<section>
|
||
<ul class="bulletlist">
|
||
<li>Autosomal recessive long QT syndrome (LQTS)</li> <li>Cardio-auditory-syncope syndrome</li> <li>Cardioauditory syndrome of Jervell and Lange-Nielsen</li> <li>Deafness, congenital, and functional heart disease</li> <li>Jervell-Lange Nielsen syndrome</li> <li>JLNS</li> <li>Prolonged QT interval in EKG and sudden death</li> <li>Surdo-cardiac syndrome</li>
|
||
</ul>
|
||
</section>
|
||
|
||
</div>
|
||
|
||
<div class="mp-exp exp-full" data-bookmark="resources">
|
||
<h2>Additional Information & Resources</h2>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Genetic Testing Information</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0022387/" target="TheNewWin">Genetic Testing Registry: Jervell and Lange-Nielsen syndrome</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C4551509/" target="TheNewWin">Genetic Testing Registry: Jervell and Lange-Nielsen syndrome 1</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C2676723/" target="TheNewWin">Genetic Testing Registry: Jervell and Lange-Nielsen syndrome 2</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Genetic and Rare Diseases Information Center</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.info.nih.gov/diseases/3048/index" target="TheNewWin">Jervell and Lange-Nielsen syndrome</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Patient Support and Advocacy Resources</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Clinical Trials</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://clinicaltrials.gov/search?cond=%22Jervell and Lange-Nielsen syndrome%22" target="TheNewWin">ClinicalTrials.gov</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Catalog of Genes and Diseases from OMIM</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://omim.org/entry/220400" target="TheNewWin">JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1</a></li>
|
||
|
||
<li><a href="https://omim.org/entry/612347" target="TheNewWin">JERVELL AND LANGE-NIELSEN SYNDROME 2; JLNS2</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Scientific Articles on PubMed</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28Jervell-Lange+Nielsen+Syndrome%5BMAJR%5D%29+OR+%28%28Jervell%5BTIAB%5D%29+AND+%28Lange-Nielsen%5BTIAB%5D%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+3600+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
</div>
|
||
|
||
<div class="mp-exp exp-full" data-bookmark="references">
|
||
<h2>References</h2>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<ul>
|
||
|
||
<li>Mizusawa Y, Horie M, Wilde AA. Genetic and clinical advances in congenital
|
||
long QT syndrome. Circ J. 2014;78(12):2827-33. doi: 10.1253/circj.cj-14-0905.
|
||
Epub 2014 Oct 1. <a href="https://pubmed.ncbi.nlm.nih.gov/25274057" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Modell SM, Lehmann MH. The long QT syndrome family of cardiac ion
|
||
channelopathies: a HuGE review. Genet Med. 2006 Mar;8(3):143-55. doi:
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||
10.1097/01.gim.0000204468.85308.86. <a href="https://pubmed.ncbi.nlm.nih.gov/16540748" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Nakano Y, Shimizu W. Genetics of long-QT syndrome. J Hum Genet. 2016
|
||
Jan;61(1):51-5. doi: 10.1038/jhg.2015.74. Epub 2015 Jun 25. <a href="https://pubmed.ncbi.nlm.nih.gov/26108145" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J,
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||
Chiang CE, Huikuri H, Kannankeril P, Krahn A, Leenhardt A, Moss A, Schwartz PJ,
|
||
Shimizu W, Tomaselli G, Tracy C. HRS/EHRA/APHRS expert consensus statement on the
|
||
diagnosis and management of patients with inherited primary arrhythmia syndromes:
|
||
document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES,
|
||
and AEPC in June 2013. Heart Rhythm. 2013 Dec;10(12):1932-63. doi:
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||
10.1016/j.hrthm.2013.05.014. Epub 2013 Aug 30. No abstract available. <a href="https://pubmed.ncbi.nlm.nih.gov/24011539" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Schwartz PJ, Crotti L. QTc behavior during exercise and genetic testing for
|
||
the long-QT syndrome. Circulation. 2011 Nov 15;124(20):2181-4. doi:
|
||
10.1161/CIRCULATIONAHA.111.062182. No abstract available. <a href="https://pubmed.ncbi.nlm.nih.gov/22083145" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>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. doi:
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||
10.1161/CIRCULATIONAHA.105.592899. Epub 2006 Feb 6. <a href="https://pubmed.ncbi.nlm.nih.gov/16461811" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Tranebjaerg L, Samson RA, Green GE. Jervell and Lange-Nielsen Syndrome. 2002
|
||
Jul 29 [updated 2017 Aug 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA,
|
||
Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA):
|
||
University of Washington, Seattle; 1993-2025. Available from
|
||
http://www.ncbi.nlm.nih.gov/books/NBK1405/
|
||
<a href="https://pubmed.ncbi.nlm.nih.gov/20301579" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>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. doi:
|
||
10.1016/S1096-7192(02)00007-0. <a href="https://pubmed.ncbi.nlm.nih.gov/12051962" target="TheNewWin">Citation on PubMed</a></li>
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||
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||
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<script src="https://medlineplus.gov/uswds/js/uswds.min.js" type="text/javascript"></script>
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</body>
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