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<title>
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Entry
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- #609620 - SHORT QT SYNDROME 1; SQT1
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- OMIM
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<span class="h4">#609620</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS609620"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(SHORT QT SYNDROME) OR (KCNH2)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10670&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9290" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=609620[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=51083" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0050793" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/609620" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/results?search_type=advanced&omia_id=002333,002441" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0050793" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 51083<br />
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<strong>DO:</strong> 0050793<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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609620
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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SHORT QT SYNDROME 1; SQT1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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<th>
|
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Gene/Locus
|
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</th>
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<th>
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Short QT syndrome
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- 3 Entries
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<a href="/entry/609620"> Short QT syndrome 1 </a>
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<a href="/entry/609620"> 609620 </a>
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<a href="/entry/609622"> Short QT syndrome 3 </a>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/609622"> 609622 </a>
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<a href="/entry/600681"> KCNJ2 </a>
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<a href="/entry/600681"> 600681 </a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that short QT syndrome-1 (SQT1) is caused by heterozygous mutation in the KCNH2 gene (<a href="/entry/152427">152427</a>) on chromosome 7q36.</p>
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<p>Short QT syndrome (SQT) is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by <a href="#7" class="mim-tip-reference" title="Moreno, C., Oliveras, A., de la Cruz, A., Bartolucci, C., Munoz, C., Salar, E., Gimeno, J. R., Severi, S., Comes, N., Felipe, A., Gonzalez, T., Lambiase, P., Valenzuela, C. <strong>A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome.</strong> Cardiovasc. Res. 107: 613-623, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26168993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26168993</a>] [<a href="https://doi.org/10.1093/cvr/cvv196" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26168993">Moreno et al., 2015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26168993" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Short QT Syndrome</em></strong></p><p>
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Short QT syndrome-2 (SQT2; <a href="/entry/609621">609621</a>) is caused by mutation in the KCNQ1 gene (<a href="/entry/607542">607542</a>). SQT3 (<a href="/entry/609622">609622</a>) is caused by mutation in the KCNJ2 gene (<a href="/entry/600681">600681</a>). SQT7 (<a href="/entry/620231">620231</a>) is caused by mutation in the SLC4A3 gene (<a href="/entry/106195">106195</a>).</p>
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<p><a href="#5" class="mim-tip-reference" title="Gussak, I., Brugada, P., Brugada, J., Wright, R. S., Kopecky, S. L., Chaitman, B. R., Bjerregaard, P. <strong>Idiopathic short QT interval: a new clinical syndrome?</strong> Cardiology 94: 99-102, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11173780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11173780</a>] [<a href="https://doi.org/10.1159/000047299" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11173780">Gussak et al. (2000)</a> reported a brother, sister, and their mother who had idiopathic persistently short QT interval, which was associated in the 17-year-old sister with several episodes of paroxysmal atrial fibrillation requiring cardioversion. All 3 patients had QT intervals of less than 80% of predicted value (280 ms, 272 ms, and 260 ms in the sister, brother, and mother, respectively). Similar ECG changes (QT interval, 260 ms) in an unrelated 37-year-old female were associated with sudden cardiac death. <a href="#6" class="mim-tip-reference" title="Hong, K., Bjerregaard, P., Gussak, I., Brugada, R. <strong>Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.</strong> J. Cardiovasc. Electrophysiol. 16: 394-396, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15828882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15828882</a>] [<a href="https://doi.org/10.1046/j.1540-8167.2005.40621.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15828882">Hong et al. (2005)</a> reported that in the family originally studied by <a href="#5" class="mim-tip-reference" title="Gussak, I., Brugada, P., Brugada, J., Wright, R. S., Kopecky, S. L., Chaitman, B. R., Bjerregaard, P. <strong>Idiopathic short QT interval: a new clinical syndrome?</strong> Cardiology 94: 99-102, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11173780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11173780</a>] [<a href="https://doi.org/10.1159/000047299" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11173780">Gussak et al. (2000)</a> the deceased maternal grandfather also had short QT interval and chronic atrial fibrillation. Programmed electrical stimulation in the mother and 2 sibs revealed a remarkably short atrial and ventricular refractory period and inducibility of atrial and ventricular fibrillation. All 3 affected members of the family received implantable cardioverter defibrillators, and treatment with propafenone maintained them free of atrial fibrillation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15828882+11173780" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Gaita, F., Giustetto, C., Bianchi, F., Wolpert, C., Schimpf, R., Riccardi, R., Grossi, S., Richiardi, E., Borggrefe, M. <strong>Short QT syndrome: a familial cause of sudden death.</strong> Circulation 108: 965-970, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12925462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12925462</a>] [<a href="https://doi.org/10.1161/01.CIR.0000085071.28695.C4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12925462">Gaita et al. (2003)</a> described 2 unrelated 5-generation pedigrees with a strong family history of sudden death and an idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. Symptoms included syncope, palpitations, and cardiac arrest. Sudden death occurred in both males and females over 4 generations with father-to-son transmission in both families, suggesting an autosomal dominant mode of inheritance. Six patients underwent extensive evaluation; all exhibited a QT interval of less than 280 ms on baseline ECG and had short atrial and ventricular refractory periods; increased ventricular vulnerability to fibrillation was demonstrated in 3 of 4 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12925462" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using a candidate gene approach in 2 families with short QT syndrome, previously reported by <a href="#3" class="mim-tip-reference" title="Gaita, F., Giustetto, C., Bianchi, F., Wolpert, C., Schimpf, R., Riccardi, R., Grossi, S., Richiardi, E., Borggrefe, M. <strong>Short QT syndrome: a familial cause of sudden death.</strong> Circulation 108: 965-970, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12925462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12925462</a>] [<a href="https://doi.org/10.1161/01.CIR.0000085071.28695.C4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12925462">Gaita et al. (2003)</a>, <a href="#2" class="mim-tip-reference" title="Brugada, R., Hong, K., Dumaine, R., Cordeiro, J., Gaita, F., Borggrefe, M., Menendez, T. M., Brugada, J., Pollevick, G. D., Wolpert, C., Burashnikov, E., Matsuo, K., Wu, Y. S., Guerchicoff, A., Bianchi, F., Giustetto, C., Schimpf, R., Brugada, P., Antzelevitch, C. <strong>Sudden death associated with short-QT syndrome linked to mutations in HERG.</strong> Circulation 109: 30-35, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14676148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14676148</a>] [<a href="https://doi.org/10.1161/01.CIR.0000109482.92774.3A" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14676148">Brugada et al. (2004)</a> directly sequenced multiple genes encoding ion channels contributing to repolarization of the ventricular action potential and identified 2 different missense mutations (<a href="/entry/152427#0017">152427.0017</a> and <a href="/entry/152427#0018">152427.0018</a>, respectively) in the KCNH2 gene, leading to the same asn588-to-lys (N588K) substitution. The mutation was present in all affected family members and in none of the unaffected individuals. The occurrence of sudden cardiac death in the first 12 months of life in 2 patients suggested the possibility of a link between KCNH2 gain-of-function mutations and sudden infant death syndrome (<a href="/entry/272120">272120</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12925462+14676148" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a family with short QT syndrome, originally reported by <a href="#5" class="mim-tip-reference" title="Gussak, I., Brugada, P., Brugada, J., Wright, R. S., Kopecky, S. L., Chaitman, B. R., Bjerregaard, P. <strong>Idiopathic short QT interval: a new clinical syndrome?</strong> Cardiology 94: 99-102, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11173780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11173780</a>] [<a href="https://doi.org/10.1159/000047299" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11173780">Gussak et al. (2000)</a>, <a href="#6" class="mim-tip-reference" title="Hong, K., Bjerregaard, P., Gussak, I., Brugada, R. <strong>Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.</strong> J. Cardiovasc. Electrophysiol. 16: 394-396, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15828882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15828882</a>] [<a href="https://doi.org/10.1046/j.1540-8167.2005.40621.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15828882">Hong et al. (2005)</a> identified an N588K mutation (<a href="/entry/152427#0017">152427.0017</a>) in the KCNH2 gene. They concluded that codon 588 is a hotspot for this familial form of short QT syndrome. <a href="#6" class="mim-tip-reference" title="Hong, K., Bjerregaard, P., Gussak, I., Brugada, R. <strong>Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.</strong> J. Cardiovasc. Electrophysiol. 16: 394-396, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15828882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15828882</a>] [<a href="https://doi.org/10.1046/j.1540-8167.2005.40621.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15828882">Hong et al. (2005)</a> noted that the disease is clinically heterogeneous, with symptoms varying from atrial to ventricular fibrillation and sudden death in the 3 families with the same mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15828882+11173780" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Schimpf, R., Wolpert, C., Gaita, F., Giustetto, C., Borggrefe, M. <strong>Short QT syndrome.</strong> Cardiovasc. Res. 67: 357-366, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15890322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15890322</a>] [<a href="https://doi.org/10.1016/j.cardiores.2005.03.026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15890322">Schimpf et al. (2005)</a> reviewed the clinical, electrophysiologic, and molecular features of 15 reported cases (<a href="#5" class="mim-tip-reference" title="Gussak, I., Brugada, P., Brugada, J., Wright, R. S., Kopecky, S. L., Chaitman, B. R., Bjerregaard, P. <strong>Idiopathic short QT interval: a new clinical syndrome?</strong> Cardiology 94: 99-102, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11173780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11173780</a>] [<a href="https://doi.org/10.1159/000047299" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11173780">Gussak et al., 2000</a>, <a href="#3" class="mim-tip-reference" title="Gaita, F., Giustetto, C., Bianchi, F., Wolpert, C., Schimpf, R., Riccardi, R., Grossi, S., Richiardi, E., Borggrefe, M. <strong>Short QT syndrome: a familial cause of sudden death.</strong> Circulation 108: 965-970, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12925462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12925462</a>] [<a href="https://doi.org/10.1161/01.CIR.0000085071.28695.C4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12925462">Gaita et al., 2003</a>, <a href="#2" class="mim-tip-reference" title="Brugada, R., Hong, K., Dumaine, R., Cordeiro, J., Gaita, F., Borggrefe, M., Menendez, T. M., Brugada, J., Pollevick, G. D., Wolpert, C., Burashnikov, E., Matsuo, K., Wu, Y. S., Guerchicoff, A., Bianchi, F., Giustetto, C., Schimpf, R., Brugada, P., Antzelevitch, C. <strong>Sudden death associated with short-QT syndrome linked to mutations in HERG.</strong> Circulation 109: 30-35, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14676148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14676148</a>] [<a href="https://doi.org/10.1161/01.CIR.0000109482.92774.3A" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14676148">Brugada et al., 2004</a>, <a href="#1" class="mim-tip-reference" title="Bellocq, C., van Ginneken, A. C. G., Bezzina, C. R., Alders, M., Escande, D., Mannens, M. M. A. M., Baro, I., Wilde, A. A. M. <strong>Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.</strong> Circulation 109: 2394-2397, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15159330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15159330</a>] [<a href="https://doi.org/10.1161/01.CIR.0000130409.72142.FE" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15159330">Bellocq et al., 2004</a>, and <a href="#8" class="mim-tip-reference" title="Priori, S. G., Pandit, S. V., Rivolta, I., Berenfeld, O., Ronchetti, E., Dhamoon, A., Napolitano, C., Anumonwo, J., Raffaele di Barletta, M., Gudapakkam, S., Bosi, G., Stramba-Badiale, M., Jalife, J. <strong>A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene.</strong> Circ. Res. 96: 800-807, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15761194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15761194</a>] [<a href="https://doi.org/10.1161/01.RES.0000162101.76263.8c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15761194">Priori et al., 2005</a>) and 2 unpublished cases of short QT syndrome type 1, 2, and 3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12925462+15890322+15761194+11173780+15159330+14676148" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>From a cohort of 2,008 healthy individuals, <a href="#4" class="mim-tip-reference" title="Gouas, L., Nicaud, V., Berthet, M., Forhan, A., Tiret, L., Balkau, B., Guicheney, P. and the D.E.S.I.R. study group. <strong>Association of KCNQ1, KCNE1, KCNH1 and SCN5A polymorphisms with QTc interval length in a healthy population.</strong> Europ. J. Hum. Genet. 13: 1213-1222, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16132053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16132053</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201489" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16132053">Gouas et al. (2005)</a> analyzed a group of 200 individuals with the shortest QTc intervals and a group of 198 with the longest QTc intervals, comparing the allele, genotype, and haplotype frequencies of polymorphisms in cardiac ion channel genes (10 SNPs in KCNQ1, 2 in KCNE1 (<a href="/entry/176261">176261</a>), 4 in SCN5A (<a href="/entry/600163">600163</a>), and 1 in KCNH2) between the 2 groups. Based on observed differences, <a href="#4" class="mim-tip-reference" title="Gouas, L., Nicaud, V., Berthet, M., Forhan, A., Tiret, L., Balkau, B., Guicheney, P. and the D.E.S.I.R. study group. <strong>Association of KCNQ1, KCNE1, KCNH1 and SCN5A polymorphisms with QTc interval length in a healthy population.</strong> Europ. J. Hum. Genet. 13: 1213-1222, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16132053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16132053</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201489" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16132053">Gouas et al. (2005)</a> suggested that genetic determinants located in these genes influence QTc length in healthy individuals and may represent risk factors for arrhythmias or cardiac sudden death in patients with cardiovascular disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16132053" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.</strong>
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Circulation 109: 2394-2397, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15159330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15159330</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15159330" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Brugada, R., Hong, K., Dumaine, R., Cordeiro, J., Gaita, F., Borggrefe, M., Menendez, T. M., Brugada, J., Pollevick, G. D., Wolpert, C., Burashnikov, E., Matsuo, K., Wu, Y. S., Guerchicoff, A., Bianchi, F., Giustetto, C., Schimpf, R., Brugada, P., Antzelevitch, C.
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<strong>Sudden death associated with short-QT syndrome linked to mutations in HERG.</strong>
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Circulation 109: 30-35, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14676148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14676148</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14676148" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gaita, F., Giustetto, C., Bianchi, F., Wolpert, C., Schimpf, R., Riccardi, R., Grossi, S., Richiardi, E., Borggrefe, M.
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<strong>Short QT syndrome: a familial cause of sudden death.</strong>
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Circulation 108: 965-970, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12925462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12925462</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12925462" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gouas, L., Nicaud, V., Berthet, M., Forhan, A., Tiret, L., Balkau, B., Guicheney, P. and the D.E.S.I.R. study group.
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<strong>Association of KCNQ1, KCNE1, KCNH1 and SCN5A polymorphisms with QTc interval length in a healthy population.</strong>
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Europ. J. Hum. Genet. 13: 1213-1222, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16132053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16132053</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16132053" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gussak, I., Brugada, P., Brugada, J., Wright, R. S., Kopecky, S. L., Chaitman, B. R., Bjerregaard, P.
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<strong>Idiopathic short QT interval: a new clinical syndrome?</strong>
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Cardiology 94: 99-102, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11173780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11173780</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11173780" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.</strong>
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J. Cardiovasc. Electrophysiol. 16: 394-396, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15828882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15828882</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15828882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1540-8167.2005.40621.x" target="_blank">Full Text</a>]
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Moreno, C., Oliveras, A., de la Cruz, A., Bartolucci, C., Munoz, C., Salar, E., Gimeno, J. R., Severi, S., Comes, N., Felipe, A., Gonzalez, T., Lambiase, P., Valenzuela, C.
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<strong>A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome.</strong>
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Cardiovasc. Res. 107: 613-623, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26168993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26168993</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26168993" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/cvr/cvv196" target="_blank">Full Text</a>]
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Priori, S. G., Pandit, S. V., Rivolta, I., Berenfeld, O., Ronchetti, E., Dhamoon, A., Napolitano, C., Anumonwo, J., Raffaele di Barletta, M., Gudapakkam, S., Bosi, G., Stramba-Badiale, M., Jalife, J.
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<strong>A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene.</strong>
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Circ. Res. 96: 800-807, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15761194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15761194</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15761194" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1161/01.RES.0000162101.76263.8c" target="_blank">Full Text</a>]
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Schimpf, R., Wolpert, C., Gaita, F., Giustetto, C., Borggrefe, M.
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<strong>Short QT syndrome.</strong>
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Cardiovasc. Res. 67: 357-366, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15890322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15890322</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15890322" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.cardiores.2005.03.026" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 4/13/2006
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Marla J. F. O'Neill : 9/29/2005
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carol : 01/03/2024
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alopez : 01/31/2023<br>carol : 09/23/2015<br>mcolton : 8/18/2015<br>carol : 8/14/2015<br>carol : 4/13/2006<br>wwang : 9/29/2005
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<strong>ORPHA:</strong> 51083;
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<strong>DO:</strong> 0050793;
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7q36.1
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Short QT syndrome 1
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609620
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3
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KCNH2
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152427
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<p>A number sign (#) is used with this entry because of evidence that short QT syndrome-1 (SQT1) is caused by heterozygous mutation in the KCNH2 gene (152427) on chromosome 7q36.</p>
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<p>Short QT syndrome (SQT) is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by Moreno et al., 2015). </p><p><strong><em>Genetic Heterogeneity of Short QT Syndrome</em></strong></p><p>
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Short QT syndrome-2 (SQT2; 609621) is caused by mutation in the KCNQ1 gene (607542). SQT3 (609622) is caused by mutation in the KCNJ2 gene (600681). SQT7 (620231) is caused by mutation in the SLC4A3 gene (106195).</p>
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<p>Gussak et al. (2000) reported a brother, sister, and their mother who had idiopathic persistently short QT interval, which was associated in the 17-year-old sister with several episodes of paroxysmal atrial fibrillation requiring cardioversion. All 3 patients had QT intervals of less than 80% of predicted value (280 ms, 272 ms, and 260 ms in the sister, brother, and mother, respectively). Similar ECG changes (QT interval, 260 ms) in an unrelated 37-year-old female were associated with sudden cardiac death. Hong et al. (2005) reported that in the family originally studied by Gussak et al. (2000) the deceased maternal grandfather also had short QT interval and chronic atrial fibrillation. Programmed electrical stimulation in the mother and 2 sibs revealed a remarkably short atrial and ventricular refractory period and inducibility of atrial and ventricular fibrillation. All 3 affected members of the family received implantable cardioverter defibrillators, and treatment with propafenone maintained them free of atrial fibrillation. </p><p>Gaita et al. (2003) described 2 unrelated 5-generation pedigrees with a strong family history of sudden death and an idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. Symptoms included syncope, palpitations, and cardiac arrest. Sudden death occurred in both males and females over 4 generations with father-to-son transmission in both families, suggesting an autosomal dominant mode of inheritance. Six patients underwent extensive evaluation; all exhibited a QT interval of less than 280 ms on baseline ECG and had short atrial and ventricular refractory periods; increased ventricular vulnerability to fibrillation was demonstrated in 3 of 4 patients. </p>
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<strong>Molecular Genetics</strong>
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<p>Using a candidate gene approach in 2 families with short QT syndrome, previously reported by Gaita et al. (2003), Brugada et al. (2004) directly sequenced multiple genes encoding ion channels contributing to repolarization of the ventricular action potential and identified 2 different missense mutations (152427.0017 and 152427.0018, respectively) in the KCNH2 gene, leading to the same asn588-to-lys (N588K) substitution. The mutation was present in all affected family members and in none of the unaffected individuals. The occurrence of sudden cardiac death in the first 12 months of life in 2 patients suggested the possibility of a link between KCNH2 gain-of-function mutations and sudden infant death syndrome (272120). </p><p>In a family with short QT syndrome, originally reported by Gussak et al. (2000), Hong et al. (2005) identified an N588K mutation (152427.0017) in the KCNH2 gene. They concluded that codon 588 is a hotspot for this familial form of short QT syndrome. Hong et al. (2005) noted that the disease is clinically heterogeneous, with symptoms varying from atrial to ventricular fibrillation and sudden death in the 3 families with the same mutation. </p><p>Schimpf et al. (2005) reviewed the clinical, electrophysiologic, and molecular features of 15 reported cases (Gussak et al., 2000, Gaita et al., 2003, Brugada et al., 2004, Bellocq et al., 2004, and Priori et al., 2005) and 2 unpublished cases of short QT syndrome type 1, 2, and 3. </p><p>From a cohort of 2,008 healthy individuals, Gouas et al. (2005) analyzed a group of 200 individuals with the shortest QTc intervals and a group of 198 with the longest QTc intervals, comparing the allele, genotype, and haplotype frequencies of polymorphisms in cardiac ion channel genes (10 SNPs in KCNQ1, 2 in KCNE1 (176261), 4 in SCN5A (600163), and 1 in KCNH2) between the 2 groups. Based on observed differences, Gouas et al. (2005) suggested that genetic determinants located in these genes influence QTc length in healthy individuals and may represent risk factors for arrhythmias or cardiac sudden death in patients with cardiovascular disease. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Bellocq, C., van Ginneken, A. C. G., Bezzina, C. R., Alders, M., Escande, D., Mannens, M. M. A. M., Baro, I., Wilde, A. A. M.
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<strong>Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.</strong>
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Circulation 109: 2394-2397, 2004.
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[PubMed: 15159330]
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[Full Text: https://doi.org/10.1161/01.CIR.0000130409.72142.FE]
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Brugada, R., Hong, K., Dumaine, R., Cordeiro, J., Gaita, F., Borggrefe, M., Menendez, T. M., Brugada, J., Pollevick, G. D., Wolpert, C., Burashnikov, E., Matsuo, K., Wu, Y. S., Guerchicoff, A., Bianchi, F., Giustetto, C., Schimpf, R., Brugada, P., Antzelevitch, C.
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<strong>Sudden death associated with short-QT syndrome linked to mutations in HERG.</strong>
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Circulation 109: 30-35, 2004.
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[PubMed: 14676148]
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[Full Text: https://doi.org/10.1161/01.CIR.0000109482.92774.3A]
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Gaita, F., Giustetto, C., Bianchi, F., Wolpert, C., Schimpf, R., Riccardi, R., Grossi, S., Richiardi, E., Borggrefe, M.
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<strong>Short QT syndrome: a familial cause of sudden death.</strong>
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Circulation 108: 965-970, 2003.
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[PubMed: 12925462]
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[Full Text: https://doi.org/10.1161/01.CIR.0000085071.28695.C4]
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Gouas, L., Nicaud, V., Berthet, M., Forhan, A., Tiret, L., Balkau, B., Guicheney, P. and the D.E.S.I.R. study group.
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<strong>Association of KCNQ1, KCNE1, KCNH1 and SCN5A polymorphisms with QTc interval length in a healthy population.</strong>
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Europ. J. Hum. Genet. 13: 1213-1222, 2005.
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[PubMed: 16132053]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5201489]
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Gussak, I., Brugada, P., Brugada, J., Wright, R. S., Kopecky, S. L., Chaitman, B. R., Bjerregaard, P.
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<strong>Idiopathic short QT interval: a new clinical syndrome?</strong>
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Cardiology 94: 99-102, 2000.
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[PubMed: 11173780]
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[Full Text: https://doi.org/10.1159/000047299]
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Hong, K., Bjerregaard, P., Gussak, I., Brugada, R.
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<strong>Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.</strong>
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J. Cardiovasc. Electrophysiol. 16: 394-396, 2005.
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[PubMed: 15828882]
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[Full Text: https://doi.org/10.1046/j.1540-8167.2005.40621.x]
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Moreno, C., Oliveras, A., de la Cruz, A., Bartolucci, C., Munoz, C., Salar, E., Gimeno, J. R., Severi, S., Comes, N., Felipe, A., Gonzalez, T., Lambiase, P., Valenzuela, C.
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<strong>A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome.</strong>
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Cardiovasc. Res. 107: 613-623, 2015.
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[PubMed: 26168993]
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[Full Text: https://doi.org/10.1093/cvr/cvv196]
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Priori, S. G., Pandit, S. V., Rivolta, I., Berenfeld, O., Ronchetti, E., Dhamoon, A., Napolitano, C., Anumonwo, J., Raffaele di Barletta, M., Gudapakkam, S., Bosi, G., Stramba-Badiale, M., Jalife, J.
|
|
<strong>A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene.</strong>
|
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Circ. Res. 96: 800-807, 2005.
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[PubMed: 15761194]
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[Full Text: https://doi.org/10.1161/01.RES.0000162101.76263.8c]
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Schimpf, R., Wolpert, C., Gaita, F., Giustetto, C., Borggrefe, M.
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<strong>Short QT syndrome.</strong>
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Cardiovasc. Res. 67: 357-366, 2005.
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[PubMed: 15890322]
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[Full Text: https://doi.org/10.1016/j.cardiores.2005.03.026]
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Marla J. F. O'Neill - updated : 4/13/2006
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Marla J. F. O'Neill : 9/29/2005
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carol : 01/03/2024<br>alopez : 01/31/2023<br>carol : 09/23/2015<br>mcolton : 8/18/2015<br>carol : 8/14/2015<br>carol : 4/13/2006<br>wwang : 9/29/2005
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