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<span>Short QT syndrome</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/short-qt-syndrome/</span>
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<h1>Short QT 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>Short QT syndrome is a condition that can cause a disruption of the heart's normal rhythm (arrhythmia). In people with this condition, the heart (cardiac) muscle takes less time than usual to recharge between beats. The term "short QT" refers to a specific pattern of heart activity that is detected with an electrocardiogram (EKG), which is a test used to measure the electrical activity of the heart. In people with this condition, the part of the heartbeat known as the <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">QT interval<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> is abnormally short.</p><p>If untreated, the arrhythmia associated with short QT syndrome can lead to a variety of signs and symptoms, from dizziness and fainting (syncope) to cardiac arrest and sudden death. These signs and symptoms can occur any time from early infancy to old age. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger than 1 year. However, some people with short QT syndrome never experience any health problems associated with the condition.</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>Short QT syndrome appears to be rare. At least 70 cases have been identified worldwide since the condition was discovered in 2000. However, the condition may be underdiagnosed because some affected individuals never experience symptoms.</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>Mutations in the <i><a data-pid="17445" href="https://medlineplus.gov/genetics/gene/kcnh2/">KCNH2</a></i>, <i><a data-pid="17451" href="https://medlineplus.gov/genetics/gene/kcnj2/">KCNJ2</a></i>, and <i><a data-pid="17431" href="https://medlineplus.gov/genetics/gene/kcnq1/">KCNQ1</a></i> genes can cause short QT syndrome. These genes provide instructions for making <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_4" title="Show image">channels<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> that transport positively charged atoms (ions) of potassium out of cells. In cardiac muscle, these ion channels play critical roles in maintaining the heart's normal rhythm. Mutations in the <i>KCNH2</i>, <i>KCNJ2</i>, or <i>KCNQ1</i> gene increase the activity of the channels, which enhances the flow of potassium ions across the membrane of cardiac muscle cells. This change in ion transport alters the electrical activity of the heart and can lead to the abnormal heart rhythms characteristic of short QT syndrome.</p><p>Some affected individuals do not have an identified mutation in the <i>KCNH2</i>, <i>KCNJ2</i>, or <i>KCNQ1</i> gene. Changes in other genes that have not been identified may cause the disorder in these cases.</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 Short QT syndrome</h3>
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<ul class="relatedmp">
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<li><a href="https://medlineplus.gov/genetics/gene/cacna1c/">CACNA1C</a></li>
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<li><a href="https://medlineplus.gov/genetics/gene/kcnh2/">KCNH2</a></li>
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<li><a href="https://medlineplus.gov/genetics/gene/kcnj2/">KCNJ2</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>Short QT syndrome appears to have an <a class="image-modal" data-alt="A parent with an autosomal dominant condition passes the altered gene to two affected children. Two other children do not receive the altered gene, and are unaffected." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00009C_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00009C" data-sourceurl="" data-title="Autosomal dominant inheritance" href="https://medlineplus.gov/images/PX00009C_PRESENTATION.jpeg" id="PX00009C_1" title="Show image">autosomal dominant pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected individuals have a family history of short QT syndrome or related heart problems and sudden cardiac death. Other cases of short QT syndrome are classified as sporadic and occur in people with no apparent family history of related heart problems.</p></div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="synonyms">
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<h2>Other Names for This Condition</h2>
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<section>
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<ul class="bulletlist">
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<li>SQTS</li>
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</ul>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="resources">
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<h2>Additional Information & Resources</h2>
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<section>
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<div class="mp-content">
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<h2>Genetic Testing Information</h2>
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<ul>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C1865020/" target="TheNewWin">Genetic Testing Registry: Short QT syndrome type 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/C1865019/" target="TheNewWin">Genetic Testing Registry: Short QT syndrome type 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>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C1865018/" target="TheNewWin">Genetic Testing Registry: Short QT syndrome type 3</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>
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</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=%22Short QT 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>
|
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|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Catalog of Genes and Diseases from OMIM</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://omim.org/entry/609620" target="TheNewWin">SHORT QT SYNDROME 1; SQT1</a></li>
|
||
|
||
<li><a href="https://omim.org/entry/609621" target="TheNewWin">SHORT QT SYNDROME 2; SQT2</a></li>
|
||
|
||
<li><a href="https://omim.org/entry/609622" target="TheNewWin">SHORT QT SYNDROME 3; SQT3</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=%28Arrhythmia%5BMAJR%5D%29+AND+%28short+qt+syndrome%5BTIAB%5D%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+1800+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>Bjerregaard P, Gussak I. Short QT syndrome. Ann Noninvasive Electrocardiol.
|
||
2005 Oct;10(4):436-40. doi: 10.1111/j.1542-474X.2005.00064.x. <a href="https://pubmed.ncbi.nlm.nih.gov/16255754" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Borggrefe M, Wolpert C, Antzelevitch C, Veltmann C, Giustetto C, Gaita F,
|
||
Schimpf R. Short QT syndrome. Genotype-phenotype correlations. J Electrocardiol.
|
||
2005 Oct;38(4 Suppl):75-80. doi: 10.1016/j.jelectrocard.2005.06.009. <a href="https://pubmed.ncbi.nlm.nih.gov/16226079" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1474068/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>Brugada R, Hong K, Cordeiro JM, Dumaine R. Short QT syndrome. CMAJ. 2005 Nov
|
||
22;173(11):1349-54. doi: 10.1503/cmaj.050596. <a href="https://pubmed.ncbi.nlm.nih.gov/16301704" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1283503/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>Gaita F, Giustetto C, Bianchi F, Wolpert C, Schimpf R, Riccardi R, Grossi S,
|
||
Richiardi E, Borggrefe M. Short QT Syndrome: a familial cause of sudden death.
|
||
Circulation. 2003 Aug 26;108(8):965-70. doi: 10.1161/01.CIR.0000085071.28695.C4.
|
||
Epub 2003 Aug 18. <a href="https://pubmed.ncbi.nlm.nih.gov/12925462" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Giustetto C, Schimpf R, Mazzanti A, Scrocco C, Maury P, Anttonen O, Probst V,
|
||
Blanc JJ, Sbragia P, Dalmasso P, Borggrefe M, Gaita F. Long-term follow-up of
|
||
patients with short QT syndrome. J Am Coll Cardiol. 2011 Aug 2;58(6):587-95. doi:
|
||
10.1016/j.jacc.2011.03.038. <a href="https://pubmed.ncbi.nlm.nih.gov/21798421" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Gollob MH, Redpath CJ, Roberts JD. The short QT syndrome: proposed diagnostic
|
||
criteria. J Am Coll Cardiol. 2011 Feb 15;57(7):802-12. doi:
|
||
10.1016/j.jacc.2010.09.048. <a href="https://pubmed.ncbi.nlm.nih.gov/21310316" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Gussak I, Bjerregaard P. Short QT syndrome--5 years of progress. J
|
||
Electrocardiol. 2005 Oct;38(4):375-7. doi: 10.1016/j.jelectrocard.2005.06.012. No
|
||
abstract available. <a href="https://pubmed.ncbi.nlm.nih.gov/16216616" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Maluli HA, Meshkov AB. A short story of the short QT syndrome. Cleve Clin J
|
||
Med. 2013 Jan;80(1):41-7. doi: 10.3949/ccjm.80a.12029. <a href="https://pubmed.ncbi.nlm.nih.gov/23288944" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Patel U, Pavri BB. Short QT syndrome: a review. Cardiol Rev. 2009
|
||
Nov-Dec;17(6):300-3. doi: 10.1097/CRD.0b013e3181c07592. <a href="https://pubmed.ncbi.nlm.nih.gov/19829181" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Schimpf R, Wolpert C, Gaita F, Giustetto C, Borggrefe M. Short QT syndrome.
|
||
Cardiovasc Res. 2005 Aug 15;67(3):357-66. doi: 10.1016/j.cardiores.2005.03.026.
|
||
<a href="https://pubmed.ncbi.nlm.nih.gov/15890322" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Wolpert C, Schimpf R, Veltmann C, Giustetto C, Gaita F, Borggrefe M. Clinical
|
||
characteristics and treatment of short QT syndrome. Expert Rev Cardiovasc Ther.
|
||
2005 Jul;3(4):611-7. doi: 10.1586/14779072.3.4.611. <a href="https://pubmed.ncbi.nlm.nih.gov/16076272" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
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|
||
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