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<meta name="keywords" content="C1141890, congenital long qt syndrome, disease or syndrome, familial long qt syndrome, hereditary long qt syndrome, inherited long qt syndrome, long qt syndrome, lqts, romano-ward long qt syndrome, romano-ward syndrome, rws, ventricular fibrillation with prolonged qt interval, ward-romano syndrome, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999).&#13; A form of torsade de pointes in which the first beat has a short coupling interval has been described (613600).&#13; Genetic Heterogeneity of Long QT Syndrome&#13; Other forms of LQT syndrome (LQTS) are LQT2 (613688), caused by mutation in the KCNH2 gene (152427); LQT3 (603830), caused by mutation in the SCN5A gene (600163); LQT4 (see 600919), caused by mutation in the ANK2 gene (106410); LQT5 (613695), caused by mutation in the KCNE1 gene (176261); LQT6 (613693), caused by mutation in the KCNE2 gene (603796); LQT7 (Andersen cardiodysrhythmic periodic paralysis, 170390), caused by mutation in the KCNJ2 gene (600681); LQT8 (618447), caused by mutation in the CACNA1C gene (114205); LQT9 (611818), caused by mutation in the CAV3 gene (601253); LQT10 (611819), caused by mutation in the SCN4B gene (608256); LQT11 (611820), caused by mutation in the AKAP9 gene (604001); LQT12 (612955), caused by mutation in the SNTA1 gene (601017); LQT13 (613485), caused by mutation in the KCNJ5 gene (600734); LQT14 (616247), caused by mutation in the CALM1 gene (114180), LQT15 (616249), caused by mutation in the CALM2 gene (114182); and LQT16 (618782), caused by mutation in the CALM3 gene (114183).&#13; Approximately 10% of LQTS patients in whom a mutation is identified in one ion channel gene carry a second mutation in the same gene or in another ion channel gene (Tester et al., 2005).&#13; Reviews&#13; Giudicessi and Ackerman (2016) reviewed the role of Ca(2+) cycling in cardiac repolarization and in the pathogenesis of long QT-associated cardiac arrhythmias." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=685787
ConceptID=C1141890
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital long QT syndrome<span class="h1sub">(RWS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>685787</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1141890</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Familial long QT syndrome; Romano-Ward syndrome; RWS; VENTRICULAR FIBRILLATION WITH PROLONGED QT INTERVAL</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Congenital long QT syndrome (442917000); Inherited long QT syndrome (442917000); Familial long QT syndrome (442917000)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0441748</a></dd><dt><span class="dotprefix"></span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0443147</a></dd><dt><span class="dotprefix"></span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
Gene(s) associated with related conditions. For conditions<br />
in a hierarchy, the parent condition will list the genes<br />
associated with the children conditions.</div></td>
<td><a target="_blank" href="/gene/144245">ALG10B</a>, <a target="_blank" href="/gene/10142">AKAP9</a>, <a target="_blank" href="/gene/9992">KCNE2</a>, <a target="_blank" href="/gene/6640">SNTA1</a>, <a target="_blank" href="/gene/6331">SCN5A</a>, <a target="_blank" href="/gene/6330">SCN4B</a>, <a target="_blank" href="/gene/3784">KCNQ1</a>, <a target="_blank" href="/gene/3762">KCNJ5</a>, <a target="_blank" href="/gene/3757">KCNH2</a>, <a target="_blank" href="/gene/3753">KCNE1</a>, <a target="_blank" href="/gene/859">CAV3</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0019171" target="_blank">MONDO:0019171</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
<td><a href="https://omim.org/phenotypicSeries/PS192500" target="_blank">PS192500</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=768">ORPHA768</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999).&#13; A form of torsade de pointes in which the first beat has a short coupling interval has been described (613600).&#13; Genetic Heterogeneity of Long QT Syndrome&#13; Other forms of LQT syndrome (LQTS) are LQT2 (613688), caused by mutation in the KCNH2 gene (152427); LQT3 (603830), caused by mutation in the SCN5A gene (600163); LQT4 (see 600919), caused by mutation in the ANK2 gene (106410); LQT5 (613695), caused by mutation in the KCNE1 gene (176261); LQT6 (613693), caused by mutation in the KCNE2 gene (603796); LQT7 (Andersen cardiodysrhythmic periodic paralysis, 170390), caused by mutation in the KCNJ2 gene (600681); LQT8 (618447), caused by mutation in the CACNA1C gene (114205); LQT9 (611818), caused by mutation in the CAV3 gene (601253); LQT10 (611819), caused by mutation in the SCN4B gene (608256); LQT11 (611820), caused by mutation in the AKAP9 gene (604001); LQT12 (612955), caused by mutation in the SNTA1 gene (601017); LQT13 (613485), caused by mutation in the KCNJ5 gene (600734); LQT14 (616247), caused by mutation in the CALM1 gene (114180), LQT15 (616249), caused by mutation in the CALM2 gene (114182); and LQT16 (618782), caused by mutation in the CALM3 gene (114183).&#13; Approximately 10% of LQTS patients in whom a mutation is identified in one ion channel gene carry a second mutation in the same gene or in another ion channel gene (Tester et al., 2005).&#13; Reviews&#13; Giudicessi and Ackerman (2016) reviewed the role of Ca(2+) cycling in cardiac repolarization and in the pathogenesis of long QT-associated cardiac arrhythmias. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0023976[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=44193">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=44193">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=44193" ref="ncbi_uid=44193">V</a></span></span><span class="TLline"><a href="/medgen/44193" ref="tree=GTR&amp;ncbi_uid=44193&amp;link_uid=44193" title="View MedGen record for 'Long QT syndrome'">Long QT syndrome</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1141890[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=685787">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=685787" ref="ncbi_uid=685787">V</a></span></span><span class="TLline">Congenital long QT syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551647[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1641146">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1641146" target="_blank" href="/omim/192500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=1641146">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1641146" ref="ncbi_uid=1641146">V</a></span></span><span class="TLline"><a href="/medgen/1641146" ref="tree=GTR&amp;ncbi_uid=1641146&amp;link_uid=1641146" title="View MedGen record for 'Long QT syndrome 1'">Long QT syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150943[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=462293">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462293" target="_blank" href="/omim/152427">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=462293">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=462293" ref="ncbi_uid=462293">V</a></span></span><span class="TLline"><a href="/medgen/462293" ref="tree=GTR&amp;ncbi_uid=462293&amp;link_uid=462293" title="View MedGen record for 'Long QT syndrome 2'">Long QT syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1859062[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=349087">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=349087" target="_blank" href="/omim/600163">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=349087">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=349087" ref="ncbi_uid=349087">V</a></span></span><span class="TLline"><a href="/medgen/349087" ref="tree=GTR&amp;ncbi_uid=349087&amp;link_uid=349087" title="View MedGen record for 'Long QT syndrome 3'">Long QT syndrome 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1867904[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=358092">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=358092" target="_blank" href="/omim/176261">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=358092">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=358092" ref="ncbi_uid=358092">V</a></span></span><span class="TLline"><a href="/medgen/358092" ref="tree=GTR&amp;ncbi_uid=358092&amp;link_uid=358092" title="View MedGen record for 'Long QT syndrome 5'">Long QT syndrome 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150953[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=462303">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462303" target="_blank" href="/omim/603796">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=462303">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=462303" ref="ncbi_uid=462303">V</a></span></span><span class="TLline"><a href="/medgen/462303" ref="tree=GTR&amp;ncbi_uid=462303&amp;link_uid=462303" title="View MedGen record for 'Long QT syndrome 6'">Long QT syndrome 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2678485[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=395635">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=395635" target="_blank" href="/omim/152427">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=395635">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=395635" ref="ncbi_uid=395635">V</a></span></span><span class="TLline"><a href="/medgen/395635" ref="tree=GTR&amp;ncbi_uid=395635&amp;link_uid=395635" title="View MedGen record for 'Long QT syndrome 9'">Long QT syndrome 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2678484[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=394836">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=394836" target="_blank" href="/omim/608256">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=394836">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=394836" ref="ncbi_uid=394836">V</a></span></span><span class="TLline"><a href="/medgen/394836" ref="tree=GTR&amp;ncbi_uid=394836&amp;link_uid=394836" title="View MedGen record for 'Long QT syndrome 10'">Long QT syndrome 10</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2678483[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=437218">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=437218" target="_blank" href="/omim/604001">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=437218">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=437218" ref="ncbi_uid=437218">V</a></span></span><span class="TLline"><a href="/medgen/437218" ref="tree=GTR&amp;ncbi_uid=437218&amp;link_uid=437218" title="View MedGen record for 'Long QT syndrome 11'">Long QT syndrome 11</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751830[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=442824">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=442824" target="_blank" href="/omim/601017">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=442824">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=442824" ref="ncbi_uid=442824">V</a></span></span><span class="TLline"><a href="/medgen/442824" ref="tree=GTR&amp;ncbi_uid=442824&amp;link_uid=442824" title="View MedGen record for 'Long QT syndrome 12'">Long QT syndrome 12</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150733[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=462083">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462083" target="_blank" href="/omim/600734">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=462083">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=462083" ref="ncbi_uid=462083">V</a></span></span><span class="TLline"><a href="/medgen/462083" ref="tree=GTR&amp;ncbi_uid=462083&amp;link_uid=462083" title="View MedGen record for 'Long QT syndrome 13'">Long QT syndrome 13</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0022387[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=5929">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=5929" target="_blank" href="/omim/220400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1405/" ref="ncbi_uid=5929">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=5929" ref="ncbi_uid=5929">V</a></span></span><span class="TLline"><a href="/medgen/5929" ref="tree=GTR&amp;ncbi_uid=5929&amp;link_uid=5929" title="View MedGen record for 'Jervell and Lange-Nielsen syndrome'">Jervell and Lange-Nielsen syndrome</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Congenital long QT syndrome</span><ul><li><span class="matched_ds">Congenital long QT syndrome</span><ul><li><span class="matched_ds">Congenital long QT syndrome</span><ul><li><span class="matched_ds">Congenital long QT syndrome</span><ul><li><span class="matched_ds">Congenital long QT syndrome</span><ul><li><span class="matched_ds">Congenital long QT syndrome</span><ul><li><span class="matched_ds">Congenital long QT syndrome</span><ul><li><span class="TLline"><a href="/medgen/5929" ref="tree=MeSH" title="MedGen record for Jervell and Lange-Nielsen syndrome">Jervell and Lange-Nielsen syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1641146" ref="tree=MeSH" title="MedGen record for Long QT syndrome 1">Long QT syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/462293" ref="tree=MeSH" title="MedGen record for Long QT syndrome 2">Long QT syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/349087" ref="tree=MeSH" title="MedGen record for Long QT syndrome 3">Long QT syndrome 3</a></span></li><li><span class="TLline"><a href="/medgen/358092" ref="tree=MeSH" title="MedGen record for Long QT syndrome 5">Long QT syndrome 5</a></span></li><li><span class="TLline"><a href="/medgen/462303" ref="tree=MeSH" title="MedGen record for Long QT syndrome 6">Long QT syndrome 6</a></span></li><li><span class="TLline"><a href="/medgen/395635" ref="tree=MeSH" title="MedGen record for Long QT syndrome 9">Long QT syndrome 9</a></span></li><li><span class="TLline"><a href="/medgen/394836" ref="tree=MeSH" title="MedGen record for Long QT syndrome 10">Long QT syndrome 10</a></span></li><li><span class="TLline"><a href="/medgen/437218" ref="tree=MeSH" title="MedGen record for Long QT syndrome 11">Long QT syndrome 11</a></span></li><li><span class="TLline"><a href="/medgen/442824" ref="tree=MeSH" title="MedGen record for Long QT syndrome 12">Long QT syndrome 12</a></span></li><li><span class="TLline"><a href="/medgen/462083" ref="tree=MeSH" title="MedGen record for Long QT syndrome 13">Long QT syndrome 13</a></span></li><li><span class="TLline"><a href="/medgen/331395" ref="tree=MeSH" title="MedGen record for Timothy syndrome">Timothy syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1802409" ref="tree=MeSH" title="MedGen record for Timothy syndrome type 1">Timothy syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/930016" ref="tree=MeSH" title="MedGen record for Timothy syndrome type 2">Timothy syndrome type 2</a></span></li><li><span class="TLline"><a href="/medgen/1805271" ref="tree=MeSH" title="MedGen record for Timothy syndrome, atypical type">Timothy syndrome, atypical type</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&amp;data_id=156&amp;PatId=658&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Congenital long QT syndrome</span> in Orphanet.</div></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/34039680">Diagnosis, management and therapeutic strategies for congenital long QT syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wilde AAM,
Amin AS,
Postema PG</span><br />
<span class="medgenPMjournal">Heart</span>
2022 Mar;108(5):332-338.
Epub 2021 May 26
doi: 10.1136/heartjnl-2020-318259.
<span class="bold">PMID: </span><a href="/pubmed/34039680" target="_blank">34039680</a><a href="/pmc/articles/PMC8862104" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26715165">The genetics underlying acquired long QT syndrome: impact for genetic screening.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Itoh H,
Crotti L,
Aiba T,
Spazzolini C,
Denjoy I,
Fressart V,
Hayashi K,
Nakajima T,
Ohno S,
Makiyama T,
Wu J,
Hasegawa K,
Mastantuono E,
Dagradi F,
Pedrazzini M,
Yamagishi M,
Berthet M,
Murakami Y,
Shimizu W,
Guicheney P,
Schwartz PJ,
Horie M</span><br />
<span class="medgenPMjournal">Eur Heart J</span>
2016 May 7;37(18):1456-64.
Epub 2015 Dec 28
doi: 10.1093/eurheartj/ehv695.
<span class="bold">PMID: </span><a href="/pubmed/26715165" target="_blank">26715165</a><a href="/pmc/articles/PMC4914885" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16226077">Genotype-phenotype relationships in congenital long QT syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ackerman MJ</span><br />
<span class="medgenPMjournal">J Electrocardiol</span>
2005 Oct;38(4 Suppl):64-8.
doi: 10.1016/j.jelectrocard.2005.06.018.
<span class="bold">PMID: </span><a href="/pubmed/16226077" target="_blank">16226077</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22congenital%20long%20qt%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (69)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/35589186">Congenital Long QT Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Krahn AD,
Laksman Z,
Sy RW,
Postema PG,
Ackerman MJ,
Wilde AAM,
Han HC</span><br />
<span class="medgenPMjournal">JACC Clin Electrophysiol</span>
2022 May;8(5):687-706.
doi: 10.1016/j.jacep.2022.02.017.
<span class="bold">PMID: </span><a href="/pubmed/35589186" target="_blank">35589186</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34039680">Diagnosis, management and therapeutic strategies for congenital long QT syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wilde AAM,
Amin AS,
Postema PG</span><br />
<span class="medgenPMjournal">Heart</span>
2022 Mar;108(5):332-338.
Epub 2021 May 26
doi: 10.1136/heartjnl-2020-318259.
<span class="bold">PMID: </span><a href="/pubmed/34039680" target="_blank">34039680</a><a href="/pmc/articles/PMC8862104" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35734489">CONGENITAL LONG QT SYNDROME: A SYSTEMATIC REVIEW.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Galić E,
Bešlić P,
Kilić P,
Planinić Z,
Pašalić A,
Galić I,
Ćubela VV,
Pekić P</span><br />
<span class="medgenPMjournal">Acta Clin Croat</span>
2021 Dec;60(4):739-748.
doi: 10.20471/acc.2021.60.04.22.
<span class="bold">PMID: </span><a href="/pubmed/35734489" target="_blank">35734489</a><a href="/pmc/articles/PMC9196236" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31983240">An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Adler A,
Novelli V,
Amin AS,
Abiusi E,
Care M,
Nannenberg EA,
Feilotter H,
Amenta S,
Mazza D,
Bikker H,
Sturm AC,
Garcia J,
Ackerman MJ,
Hershberger RE,
Perez MV,
Zareba W,
Ware JS,
Wilde AAM,
Gollob MH</span><br />
<span class="medgenPMjournal">Circulation</span>
2020 Feb 11;141(6):418-428.
Epub 2020 Jan 27
doi: 10.1161/CIRCULATIONAHA.119.043132.
<span class="bold">PMID: </span><a href="/pubmed/31983240" target="_blank">31983240</a><a href="/pmc/articles/PMC7017940" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28084960">Sports participation in long QT syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Aziz PF,
Saarel EV</span><br />
<span class="medgenPMjournal">Cardiol Young</span>
2017 Jan;27(S1):S43-S48.
doi: 10.1017/S1047951116002225.
<span class="bold">PMID: </span><a href="/pubmed/28084960" target="_blank">28084960</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20long%20QT%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (362)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38296457">Top stories on congenital long QT syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schwartz PJ,
Dagradi F,
Giovenzana FLF</span><br />
<span class="medgenPMjournal">Heart Rhythm</span>
2024 Feb;21(2):237-238.
doi: 10.1016/j.hrthm.2023.10.010.
<span class="bold">PMID: </span><a href="/pubmed/38296457" target="_blank">38296457</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35589186">Congenital Long QT Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Krahn AD,
Laksman Z,
Sy RW,
Postema PG,
Ackerman MJ,
Wilde AAM,
Han HC</span><br />
<span class="medgenPMjournal">JACC Clin Electrophysiol</span>
2022 May;8(5):687-706.
doi: 10.1016/j.jacep.2022.02.017.
<span class="bold">PMID: </span><a href="/pubmed/35589186" target="_blank">35589186</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34039680">Diagnosis, management and therapeutic strategies for congenital long QT syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wilde AAM,
Amin AS,
Postema PG</span><br />
<span class="medgenPMjournal">Heart</span>
2022 Mar;108(5):332-338.
Epub 2021 May 26
doi: 10.1136/heartjnl-2020-318259.
<span class="bold">PMID: </span><a href="/pubmed/34039680" target="_blank">34039680</a><a href="/pmc/articles/PMC8862104" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35734489">CONGENITAL LONG QT SYNDROME: A SYSTEMATIC REVIEW.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Galić E,
Bešlić P,
Kilić P,
Planinić Z,
Pašalić A,
Galić I,
Ćubela VV,
Pekić P</span><br />
<span class="medgenPMjournal">Acta Clin Croat</span>
2021 Dec;60(4):739-748.
doi: 10.20471/acc.2021.60.04.22.
<span class="bold">PMID: </span><a href="/pubmed/35734489" target="_blank">35734489</a><a href="/pmc/articles/PMC9196236" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28084960">Sports participation in long QT syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Aziz PF,
Saarel EV</span><br />
<span class="medgenPMjournal">Cardiol Young</span>
2017 Jan;27(S1):S43-S48.
doi: 10.1017/S1047951116002225.
<span class="bold">PMID: </span><a href="/pubmed/28084960" target="_blank">28084960</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20long%20QT%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (373)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/37061272">Vandetanib.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Ghusn AI,
Bakheit AH,
Attwa MW,
AlRabiah H</span><br />
<span class="medgenPMjournal">Profiles Drug Subst Excip Relat Methodol</span>
2023;48:109-134.
Epub 2023 Feb 2
doi: 10.1016/bs.podrm.2022.11.004.
<span class="bold">PMID: </span><a href="/pubmed/37061272" target="_blank">37061272</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35589186">Congenital Long QT Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Krahn AD,
Laksman Z,
Sy RW,
Postema PG,
Ackerman MJ,
Wilde AAM,
Han HC</span><br />
<span class="medgenPMjournal">JACC Clin Electrophysiol</span>
2022 May;8(5):687-706.
doi: 10.1016/j.jacep.2022.02.017.
<span class="bold">PMID: </span><a href="/pubmed/35589186" target="_blank">35589186</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35734489">CONGENITAL LONG QT SYNDROME: A SYSTEMATIC REVIEW.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Galić E,
Bešlić P,
Kilić P,
Planinić Z,
Pašalić A,
Galić I,
Ćubela VV,
Pekić P</span><br />
<span class="medgenPMjournal">Acta Clin Croat</span>
2021 Dec;60(4):739-748.
doi: 10.20471/acc.2021.60.04.22.
<span class="bold">PMID: </span><a href="/pubmed/35734489" target="_blank">35734489</a><a href="/pmc/articles/PMC9196236" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16226077">Genotype-phenotype relationships in congenital long QT syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ackerman MJ</span><br />
<span class="medgenPMjournal">J Electrocardiol</span>
2005 Oct;38(4 Suppl):64-8.
doi: 10.1016/j.jelectrocard.2005.06.018.
<span class="bold">PMID: </span><a href="/pubmed/16226077" target="_blank">16226077</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11984019">Congenital Long QT syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vincent GM,
Timothy K,
Zhang L</span><br />
<span class="medgenPMjournal">Card Electrophysiol Rev</span>
2002 Feb;6(1-2):57-60.
doi: 10.1023/a:1017935121656.
<span class="bold">PMID: </span><a href="/pubmed/11984019" target="_blank">11984019</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20long%20QT%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (233)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37481219">Provocation testing in congenital long QT syndrome: A practical guide.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Abrahams T,
Davies B,
Laksman Z,
Sy RW,
Postema PG,
Wilde AAM,
Krahn AD,
Han HC</span><br />
<span class="medgenPMjournal">Heart Rhythm</span>
2023 Nov;20(11):1570-1582.
Epub 2023 Jul 20
doi: 10.1016/j.hrthm.2023.07.059.
<span class="bold">PMID: </span><a href="/pubmed/37481219" target="_blank">37481219</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26715165">The genetics underlying acquired long QT syndrome: impact for genetic screening.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Itoh H,
Crotti L,
Aiba T,
Spazzolini C,
Denjoy I,
Fressart V,
Hayashi K,
Nakajima T,
Ohno S,
Makiyama T,
Wu J,
Hasegawa K,
Mastantuono E,
Dagradi F,
Pedrazzini M,
Yamagishi M,
Berthet M,
Murakami Y,
Shimizu W,
Guicheney P,
Schwartz PJ,
Horie M</span><br />
<span class="medgenPMjournal">Eur Heart J</span>
2016 May 7;37(18):1456-64.
Epub 2015 Dec 28
doi: 10.1093/eurheartj/ehv695.
<span class="bold">PMID: </span><a href="/pubmed/26715165" target="_blank">26715165</a><a href="/pmc/articles/PMC4914885" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22820673">Competitive sports participation in athletes with congenital long QT syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson JN,
Ackerman MJ</span><br />
<span class="medgenPMjournal">JAMA</span>
2012 Aug 22;308(8):764-5.
doi: 10.1001/jama.2012.9334.
<span class="bold">PMID: </span><a href="/pubmed/22820673" target="_blank">22820673</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16144174">Cocaine cardiovascular toxicity.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Karch SB</span><br />
<span class="medgenPMjournal">South Med J</span>
2005 Aug;98(8):794-9.
doi: 10.1097/01.smj.0000168701.08879.3f.
<span class="bold">PMID: </span><a href="/pubmed/16144174" target="_blank">16144174</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12496496">Torsade de pointes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">El-Sherif N,
Turitto G</span><br />
<span class="medgenPMjournal">Curr Opin Cardiol</span>
2003 Jan;18(1):6-13.
doi: 10.1097/00001573-200301000-00002.
<span class="bold">PMID: </span><a href="/pubmed/12496496" target="_blank">12496496</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20long%20QT%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (190)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38982981">Risk scores in congenital long QT syndrome: friend or foe?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wilde AAM,
van der Werf C</span><br />
<span class="medgenPMjournal">Eur Heart J</span>
2024 Aug 3;45(29):2657-2659.
doi: 10.1093/eurheartj/ehae408.
<span class="bold">PMID: </span><a href="/pubmed/38982981" target="_blank">38982981</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37481219">Provocation testing in congenital long QT syndrome: A practical guide.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Abrahams T,
Davies B,
Laksman Z,
Sy RW,
Postema PG,
Wilde AAM,
Krahn AD,
Han HC</span><br />
<span class="medgenPMjournal">Heart Rhythm</span>
2023 Nov;20(11):1570-1582.
Epub 2023 Jul 20
doi: 10.1016/j.hrthm.2023.07.059.
<span class="bold">PMID: </span><a href="/pubmed/37481219" target="_blank">37481219</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35734489">CONGENITAL LONG QT SYNDROME: A SYSTEMATIC REVIEW.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Galić E,
Bešlić P,
Kilić P,
Planinić Z,
Pašalić A,
Galić I,
Ćubela VV,
Pekić P</span><br />
<span class="medgenPMjournal">Acta Clin Croat</span>
2021 Dec;60(4):739-748.
doi: 10.20471/acc.2021.60.04.22.
<span class="bold">PMID: </span><a href="/pubmed/35734489" target="_blank">35734489</a><a href="/pmc/articles/PMC9196236" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26715165">The genetics underlying acquired long QT syndrome: impact for genetic screening.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Itoh H,
Crotti L,
Aiba T,
Spazzolini C,
Denjoy I,
Fressart V,
Hayashi K,
Nakajima T,
Ohno S,
Makiyama T,
Wu J,
Hasegawa K,
Mastantuono E,
Dagradi F,
Pedrazzini M,
Yamagishi M,
Berthet M,
Murakami Y,
Shimizu W,
Guicheney P,
Schwartz PJ,
Horie M</span><br />
<span class="medgenPMjournal">Eur Heart J</span>
2016 May 7;37(18):1456-64.
Epub 2015 Dec 28
doi: 10.1093/eurheartj/ehv695.
<span class="bold">PMID: </span><a href="/pubmed/26715165" target="_blank">26715165</a><a href="/pmc/articles/PMC4914885" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/12496496">Torsade de pointes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">El-Sherif N,
Turitto G</span><br />
<span class="medgenPMjournal">Curr Opin Cardiol</span>
2003 Jan;18(1):6-13.
doi: 10.1097/00001573-200301000-00002.
<span class="bold">PMID: </span><a href="/pubmed/12496496" target="_blank">12496496</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20long%20QT%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (181)</a></div></div>
</div>
<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/36345173">The diagnostic role of T wave morphology biomarkers in congenital and acquired long QT syndrome: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tardo DT,
Peck M,
Subbiah RN,
Vandenberg JI,
Hill AP</span><br />
<span class="medgenPMjournal">Ann Noninvasive Electrocardiol</span>
2023 Jan;28(1):e13015.
Epub 2022 Nov 7
doi: 10.1111/anec.13015.
<span class="bold">PMID: </span><a href="/pubmed/36345173" target="_blank">36345173</a><a href="/pmc/articles/PMC9833360" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35861842">Utility of Provocative Testing in the Diagnosis and Genotyping of Congenital Long QT Syndrome: A Systematic Review and Meta-Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yang Y,
Lv TT,
Li SY,
Liu P,
Gao QG,
Zhang P</span><br />
<span class="medgenPMjournal">J Am Heart Assoc</span>
2022 Jul 19;11(14):e025246.
Epub 2022 Jul 8
doi: 10.1161/JAHA.122.025246.
<span class="bold">PMID: </span><a href="/pubmed/35861842" target="_blank">35861842</a><a href="/pmc/articles/PMC9707831" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35734489">CONGENITAL LONG QT SYNDROME: A SYSTEMATIC REVIEW.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Galić E,
Bešlić P,
Kilić P,
Planinić Z,
Pašalić A,
Galić I,
Ćubela VV,
Pekić P</span><br />
<span class="medgenPMjournal">Acta Clin Croat</span>
2021 Dec;60(4):739-748.
doi: 10.20471/acc.2021.60.04.22.
<span class="bold">PMID: </span><a href="/pubmed/35734489" target="_blank">35734489</a><a href="/pmc/articles/PMC9196236" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31983240">An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Adler A,
Novelli V,
Amin AS,
Abiusi E,
Care M,
Nannenberg EA,
Feilotter H,
Amenta S,
Mazza D,
Bikker H,
Sturm AC,
Garcia J,
Ackerman MJ,
Hershberger RE,
Perez MV,
Zareba W,
Ware JS,
Wilde AAM,
Gollob MH</span><br />
<span class="medgenPMjournal">Circulation</span>
2020 Feb 11;141(6):418-428.
Epub 2020 Jan 27
doi: 10.1161/CIRCULATIONAHA.119.043132.
<span class="bold">PMID: </span><a href="/pubmed/31983240" target="_blank">31983240</a><a href="/pmc/articles/PMC7017940" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29550106">Meta-analysis of T(peak)-T(end) and T(peak)-T(end)/QT ratio for risk stratification in congenital long QT syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tse G,
Gong M,
Meng L,
Wong CW,
Georgopoulos S,
Bazoukis G,
Wong MCS,
Letsas KP,
Vassiliou VS,
Xia Y,
Baranchuk AM,
Yan GX,
Liu T</span><br />
<span class="medgenPMjournal">J Electrocardiol</span>
2018 May-Jun;51(3):396-401.
Epub 2018 Mar 6
doi: 10.1016/j.jelectrocard.2018.03.001.
<span class="bold">PMID: </span><a href="/pubmed/29550106" target="_blank">29550106</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20long%20QT%20syndrome%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div></div>
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<div class="supplemental col three_col last">
<h2 class="offscreen_noflow">Supplemental Content</h2>
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<!-- MedGen supplemental column starts here -->
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<div class="portlet mgSection" id="ID_113">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
</div>
<div class="portlet mgSection" id="ID_106">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1141890%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (12)</a></li>
<li><a href="/gtr/tests?term=C1141890%5bDISCUI%5d&amp;filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (3)</a></li>
<li><a href="/gtr/tests?term=C1141890%5bDISCUI%5d&amp;filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
<li><a href="/gtr/tests?term=C1141890%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
<li><a href="/gtr/tests?term=C1141890%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (34)</a></li>
<li><a href="/gtr/tests?term=C1141890%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (21)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1141890%5bDISCUI%5d" target="_blank">See all (40)</a></total></li>
</ul></div>
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<div class="portlet mgSection" id="ID_119">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS192500" target="_blank">OMIM</a></li><li><a href="#" class="jig-ncbipopper results_settings" role="button" aria-expanded="false" aria-haspopup="true" data-jigconfig="triggerPosition : 'bottom center',destPosition : 'top center', hasArrow : false,openEvent : 'click',closeEvent : 'click',isTriggerElementCloseClick: false, addCloseButton : false, groupName: 'entrez_pg',destSelector : '#orphaPopup'">Orphanet<span class="tgt_dark"></span></a></li><li><a href="https://clinicaltrials.gov/search?cond=Congenital%20long%20QT%20syndrome" target="_blank">ClinicalTrials.gov</a></li></ul><div id="orphaPopup" aria-live="assertive" aria-hidden="true" style="display: none;" class="portlet_popup tabPopper ui-helper-reset ui-ncbipopper-wrapper ui-ncbipopper-basic"><ul class="column_list"><li><a target="_blank" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=101016">Romano-Ward syndrome</a></li><li><a target="_blank" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=768">Familial long QT syndrome</a></li></ul></div></div>
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