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<title>
Entry
- #618782 - LONG QT SYNDROME 16; LQT16
- OMIM
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<span class="h4">#618782</span>
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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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<a href="/clinicalSynopsis/618782"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS604772,PS192500"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalManagement">Clinical Management</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<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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<div><a href="https://clinicaltrials.gov/search?cond=(LONG QT SYNDROME) OR (CALM3)" 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.alliancegenome.org/disease/DOID:0070533" 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>
<div><a href="http://www.informatics.jax.org/disease/618782" 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>
<div><a href="https://wormbase.org/resources/disease/DOID:0070533" 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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<a id="title" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>DO:</strong> 0070533<br />
">ICD+</a>
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<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
618782
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<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
LONG QT SYNDROME 16; LQT16
</span>
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<br />
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<a id="includedTitles" class="mim-anchor"></a>
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Other entities represented in this entry:
</span>
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<span class="h3 mim-font">
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC 6, INCLUDED; CPVT6, INCLUDED
</span>
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<br />
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<h4>
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/854?start=-3&limit=10&highlight=854">
19q13.32
</a>
</span>
</td>
<td>
<span class="mim-font">
?Ventricular tachycardia, catecholaminergic polymorphic 6
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
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</td>
<td>
<span class="mim-font">
<a href="/entry/618782"> 618782 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
CALM3
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114183"> 114183 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/854?start=-3&limit=10&highlight=854">
19q13.32
</a>
</span>
</td>
<td>
<span class="mim-font">
Long QT syndrome 16
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618782"> 618782 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
CALM3
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114183"> 114183 </a>
</span>
</td>
</tr>
</tbody>
</table>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/618782" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/618782" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Bradycardia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48867003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48867003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R00.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R00.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0428977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0428977</a>, <a href="https://bioportal.bioontology.org/search?q=C3812171&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3812171</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001662" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001662</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001662" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001662</a>]</span><br /> -
Syncope <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/272030005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">272030005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271594007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271594007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/309585006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">309585006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R55" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R55</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3541349&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3541349</a>, <a href="https://bioportal.bioontology.org/search?q=C0039070&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039070</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001279" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001279</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0007185" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007185</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001279" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001279</a>]</span><br /> -
Prolonged QT interval <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111975006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111975006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151878&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151878</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001657</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001657</a>]</span><br /> -
Normal QT interval (in CPVT6 patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0853831&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853831</a>]</span><br /> -
2:1 atrioventricular block (in LQT16 patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5240044&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5240044</a>, <a href="https://bioportal.bioontology.org/search?q=C2346542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2346542</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034305</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034305</a>]</span><br /> -
T-wave alternans (in some LQT16 patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/428550008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">428550008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1998313&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1998313</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012266" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012266</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012266" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012266</a>]</span><br /> -
Torsades de pointes (uncommon) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/31722008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">31722008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I47.21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I47.21</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040479&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040479</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001664" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001664</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001664" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001664</a>]</span><br /> -
Prominent U wave (in CPVT6 patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969408&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969408</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025072</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025072</a>]</span><br /> -
Premature ventricular contractions, exercise-induced (in CPVT6 patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5394070&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5394070</a>]</span><br /> -
Bigeminal PVCs, exercise- or catecholamine-induced (in CPVT6 patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5394071&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5394071</a>]</span><br /> -
PVC couplets, exercise-induced (in CPVT6 patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5394072&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5394072</a>]</span><br /> -
Ventricular arrhythmias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44103008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44103008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085612&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085612</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004308" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004308</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004308" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004308</a>]</span><br /> -
Ventricular fibrillation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/164896001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">164896001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71908006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71908006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I49.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I49.01</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042510&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042510</a>, <a href="https://bioportal.bioontology.org/search?q=C0344435&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344435</a>, <a href="https://bioportal.bioontology.org/search?q=C2108112&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2108112</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001663</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001663</a>]</span><br /> -
Cardiac arrest (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397829000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397829000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/410429000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">410429000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I46" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I46</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018790&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018790</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001695" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001695</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001695" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001695</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- CPVT6 is based on report of 1 family (last curated February 2020)<br /> -
Fetal bradycardia may be detected (in LQT16 patients)<br /> -
Onset at birth or neonatal period (in LQT16 patients)<br /> -
Onset in childhood (in CPVT6 patients)<br /> -
Structural cardiac defects have been reported in some LQT16 patients<br /> -
Sudden death may occur <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26636000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26636000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011071&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011071</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001699" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001699</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001699" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001699</a>]</span><br /> -
De novo mutation (in most LQT16 patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2985439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2985439</a>]</span><br /> -
Somatic mosaicism in unaffected parents seen of some LQT16 patients has been reported<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the calmodulin-3 gene (CALM3, <a href="/entry/114183#0001">114183.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Long QT syndrome
- <a href="/phenotypicSeries/PS192500">PS192500</a>
- 21 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/236?start=-3&limit=10&highlight=236"> 2p21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616249"> Long QT syndrome 15 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616249"> 616249 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114182"> CALM2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114182"> 114182 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/27?start=-3&limit=10&highlight=27"> 3p25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611818"> Long QT syndrome 9 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611818"> 611818 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601253"> CAV3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601253"> 601253 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/181?start=-3&limit=10&highlight=181"> 3p22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603830"> Long QT syndrome 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603830"> 603830 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600163"> SCN5A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600163"> 600163 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/502?start=-3&limit=10&highlight=502"> 4q25-q26 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600919"> Long QT syndrome 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600919"> 600919 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/106410"> ANK2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/106410"> 106410 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/502?start=-3&limit=10&highlight=502"> 4q25-q26 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600919"> Cardiac arrhythmia, ankyrin-B-related </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600919"> 600919 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/106410"> ANK2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/106410"> 106410 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/404?start=-3&limit=10&highlight=404"> 7q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611820"> ?Long QT syndrome 11 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611820"> 611820 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604001"> AKAP9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604001"> 604001 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/821?start=-3&limit=10&highlight=821"> 7q36.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613688"> Long QT syndrome 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613688"> 613688 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/152427"> KCNH2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/152427"> 152427 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/82?start=-3&limit=10&highlight=82"> 11p15.5-p15.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/192500"> {Long QT syndrome 1, acquired, susceptibility to} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/192500"> 192500 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607542"> KCNQ1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607542"> 607542 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/82?start=-3&limit=10&highlight=82"> 11p15.5-p15.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/192500"> Long QT syndrome 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/192500"> 192500 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607542"> KCNQ1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607542"> 607542 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/976?start=-3&limit=10&highlight=976"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611819"> Atrial fibrillation, familial, 17 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611819"> 611819 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608256"> SCN4B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608256"> 608256 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/976?start=-3&limit=10&highlight=976"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611819"> Long QT syndrome 10 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611819"> 611819 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608256"> SCN4B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608256"> 608256 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/1085?start=-3&limit=10&highlight=1085"> 11q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613485"> Long QT syndrome 13 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613485"> 613485 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600734"> KCNJ5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600734"> 600734 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/18?start=-3&limit=10&highlight=18"> 12p13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618447"> Long QT syndrome 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618447"> 618447 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114205"> CACNA1C </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114205"> 114205 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/285?start=-3&limit=10&highlight=285"> 12q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613688"> {Long QT syndrome, acquired, reduced susceptibility to} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613688"> 613688 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603313"> ALG10B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603313"> 603313 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/455?start=-3&limit=10&highlight=455"> 14q32.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616247"> Long QT syndrome 14 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616247"> 616247 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114180"> CALM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114180"> 114180 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/893?start=-3&limit=10&highlight=893"> 17q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/170390"> Andersen syndrome </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/170390"> 170390 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600681"> KCNJ2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600681"> 600681 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/854?start=-3&limit=10&highlight=854"> 19q13.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618782"> ?Ventricular tachycardia, catecholaminergic polymorphic 6 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618782"> 618782 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114183"> CALM3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114183"> 114183 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/854?start=-3&limit=10&highlight=854"> 19q13.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618782"> Long QT syndrome 16 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618782"> 618782 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114183"> CALM3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114183"> 114183 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/213?start=-3&limit=10&highlight=213"> 20q11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612955"> Long QT syndrome 12 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612955"> 612955 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601017"> SNTA1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601017"> 601017 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/79?start=-3&limit=10&highlight=79"> 21q22.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613693"> Long QT syndrome 6 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613693"> 613693 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603796"> KCNE2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603796"> 603796 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/80?start=-3&limit=10&highlight=80"> 21q22.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613695"> Long QT syndrome 5 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613695"> 613695 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176261"> KCNE1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176261"> 176261 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Ventricular tachycardia, catecholaminergic polymorphic
- <a href="/phenotypicSeries/PS604772">PS604772</a>
- 7 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/951?start=-3&limit=10&highlight=951"> 1p13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611938"> Ventricular tachycardia, catecholaminergic polymorphic, 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611938"> 611938 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114251"> CASQ2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114251"> 114251 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1830?start=-3&limit=10&highlight=1830"> 1q43 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604772"> Ventricular tachycardia, catecholaminergic polymorphic, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604772"> 604772 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180902"> RYR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180902"> 180902 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/249?start=-3&limit=10&highlight=249"> 4q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614021"> Ventricular tachycardia, catecholaminergic polymorphic, 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614021"> 614021 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617242"> TECRL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617242"> 617242 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/827?start=-3&limit=10&highlight=827"> 6q22.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615441"> Cardiac arrhythmia syndrome, with or without skeletal muscle weakness </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615441"> 615441 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603283"> TRDN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603283"> 603283 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/455?start=-3&limit=10&highlight=455"> 14q32.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614916"> Ventricular tachycardia, catecholaminergic polymorphic, 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614916"> 614916 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114180"> CALM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114180"> 114180 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/854?start=-3&limit=10&highlight=854"> 19q13.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618782"> ?Ventricular tachycardia, catecholaminergic polymorphic 6 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618782"> 618782 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114183"> CALM3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114183"> 114183 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/854?start=-3&limit=10&highlight=854"> 19q13.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618782"> Long QT syndrome 16 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618782"> 618782 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114183"> CALM3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114183"> 114183 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
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<div>
<br />
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<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
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</span>
</h4>
<div id="mimTextFold" class="collapse in ">
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that long QT syndrome-16 (LQT16) and catecholaminergic polymorphic ventricular tachycardia-6 (CPVT6) are caused by heterozygous mutation in the CALM3 gene (<a href="/entry/114183">114183</a>) on chromosome 19q13. One family with CPVT6 has been reported.</p><p>For a general phenotypic description and discussion of genetic heterogeneity of long QT syndrome, see LQT1 (<a href="/entry/192500">192500</a>).</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of CPVT, see <a href="/entry/604772">604772</a>.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="description" class="mim-anchor"></a>
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<div id="mimDescriptionFold" class="collapse in ">
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<p><strong><em>LQT16</em></strong></p><p>
Long QT syndrome-16 (LQT16) is characterized by a markedly prolonged corrected QT (QTc) interval and 2:1 atrioventricular (AV) block, with onset in the perinatal period. Patients experience bradycardia or ventricular tachyarrhythmias that may result in syncope, cardiac arrest, and/or sudden death (<a href="#4" class="mim-tip-reference" title="Reed, G. J., Boczek, N. J., Etheridge, S. P., Ackerman, M. J. &lt;strong&gt;CALM3 mutation associated with long QT syndrome.&lt;/strong&gt; Heart Rhythm 12: 419-422, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25460178/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25460178&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.hrthm.2014.10.035&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25460178">Reed et al., 2015</a>; <a href="#5" class="mim-tip-reference" title="Wren, L. M., Jimenez-Jaimez, J., Al-Ghamdi, S., Al-Aama, J. Y., Bdeir, A., Al-Hassnan, Z. N., Kuan, J. L., Foo, R. Y., Potet, F., Johnson, C. N., Aziz, M. C., Carvill, G. L., and 9 others. &lt;strong&gt;Genetic mosaicism in calmodulinopathy.&lt;/strong&gt; Circ. Genom. Precis. Med. 12: 375-385, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31454269/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;31454269&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/CIRCGEN.119.002581&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="31454269">Wren et al., 2019</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=31454269+25460178" 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>Patients with LQT14 (<a href="/entry/616247">616247</a>), LQT15 (<a href="/entry/616249">616249</a>), or LQT16, resulting from mutation in calmodulin genes CALM1 (<a href="/entry/114180">114180</a>), CALM2 (<a href="/entry/114182">114182</a>), or CALM3, respectively, typically have a more severe phenotype, with earlier onset, profound QT prolongation, and a high predilection for cardiac arrest and sudden death, than patients with mutations in other genes (<a href="#1" class="mim-tip-reference" title="Boczek, N. J., Gomez-Hurtado, N., Ye, D., Calvert, M. L., Tester, D. J., Kryshtal, D. O., Hwang, H. S., Johnson, C. N., Chazin, W. J., Loporcaro, C. G., Shah, M., Papez, A. L., Lau, Y. R., Kanter, R., Knollmann, B. C., Ackerman, M. J. &lt;strong&gt;Spectrum and prevalence of CALM1-, CALM2-, and CALM3-encoded calmodulin variants in long QT syndrome and functional characterization of a novel long QT syndrome-associated calmodulin missense variant, E141G.&lt;/strong&gt; Circ. Cardiovasc. Genet. 9: 136-146, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26969752/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;26969752&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/CIRCGENETICS.115.001323&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="26969752">Boczek et al., 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26969752" 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>CPVT6</em></strong></p><p>
Catecholaminergic polymorphic ventricular tachycardia-6 (CPVT6) is characterized by childhood-onset syncopal episodes with exercise or stress. Electrocardiogram (ECG) shows a normal QT interval with a prominent U wave, and stress testing reveals premature ventricular contractions (PVCs) that may occur as bigeminy or couplets, and nonsustained ventricular tachycardia (<a href="#3" class="mim-tip-reference" title="Gomez-Hurtado, N., Boczek, N. J., Kryshtal, D. O., Johnson, C. N., Sun, J., Nitu, F. R., Cornea, R. L., Chazin, W. J., Calvert, M. L., Tester, D. J., Ackerman, M. J., Knollmann, B. C. &lt;strong&gt;Novel CPVT-associated calmodulin mutation in CALM3 (CALM3-A103V) activates arrhythmogenic Ca waves and sparks.&lt;/strong&gt; Circ. Arrhythm. Electrophysiol. 9: e004161, 2016. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/27516456/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;27516456&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/CIRCEP.116.004161&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="27516456">Gomez-Hurtado et al., 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27516456" 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><a href="#4" class="mim-tip-reference" title="Reed, G. J., Boczek, N. J., Etheridge, S. P., Ackerman, M. J. &lt;strong&gt;CALM3 mutation associated with long QT syndrome.&lt;/strong&gt; Heart Rhythm 12: 419-422, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25460178/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25460178&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.hrthm.2014.10.035&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25460178">Reed et al. (2015)</a> reported a 6-month-old boy in whom fetal ultrasound at 27 weeks was normal with no mention of bradycardia, but who had decelerations and meconium staining at delivery, with heart rates in the 60s and hypotonia during the first 8 hours of life. ECG showed bradycardia with sinus rhythm, 2:1 AV block, T-wave alternans, and profound QT prolongation, with a QTc interval of 690 ms. Echocardiogram revealed ventricular septal defect (VSD), patent ductus arteriosus, and right ventricular dilation with normal function. He continued to show functional second-degree AV block due to extremely prolonged QT intervals, and underwent placement of a single-chamber pacemaker. He was also treated for pulmonary hypertension. ECG at 5 weeks of age revealed that the QTc interval had stabilized at 579 ms and the 2:1 AV block had resolved. Follow-up at age 6 months showed persistent marked QT prolongation; however, no arrhythmias had been detected by ECG or device interrogation. Pulmonary hypertension had resolved, the patent ductus had closed, and the VSD was small. His unrelated parents had no history of syncope, and there was no family history of sudden death. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25460178" 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="#5" class="mim-tip-reference" title="Wren, L. M., Jimenez-Jaimez, J., Al-Ghamdi, S., Al-Aama, J. Y., Bdeir, A., Al-Hassnan, Z. N., Kuan, J. L., Foo, R. Y., Potet, F., Johnson, C. N., Aziz, M. C., Carvill, G. L., and 9 others. &lt;strong&gt;Genetic mosaicism in calmodulinopathy.&lt;/strong&gt; Circ. Genom. Precis. Med. 12: 375-385, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31454269/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;31454269&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/CIRCGEN.119.002581&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="31454269">Wren et al. (2019)</a> studied 4 patients from 3 families with long QT syndrome and mutations in the CALM3 gene. In family A, the proband was a Spanish girl with fetal sinus bradycardia at 16 weeks' gestation in whom ECG at birth showed profound bradycardia at 61 bpm and 2:1 AV block with markedly prolonged QTc intervals of 725 ms, as well as transient episodes of T-wave alternans. At day 23 of life, the patient experienced cardiac arrest; ECG at time of resuscitation showed ventricular fibrillation (VF). An epicardial cardioverter defibrillator (ICD) was implanted, and she experienced 2 appropriate ICD discharges at age 3 years while on propanolol. At age 4, she developed symptomatic hypoglycemia, and the propanolol dose was reduced; however, at age 5, she had hypoglycemic coma and died. Her mother had 3 spontaneous miscarriages and terminated 2 other pregnancies, 1 due to fetal bradycardia and 1 due to spina bifida. In family B, the proband was a 21-month-old boy, born of unrelated Saudi Arabian parents, who had bradycardia (45 to 60 bpm) at 12 hours of life. ECG showed bradycardia and prolonged QTc (660 ms). Treatment with propanolol did not change the QTc duration, and several months later a pacemaker was implanted because of syncope and recurrent 2:1 AV block. At age 21 months, he was doing well without syncope. His parents and nonidentical twin sister were asymptomatic and had normal ECGs with normal QTc intervals. In family D, 5 of 6 sibs experienced sudden death in childhood: the first child had seizures and died at age 6 years; the second at 45 days; the third was asymptomatic at age 13 years; the fourth had fetal bradycardia and exhibited LQTS with 2:1 AV block, and died suddenly at 10 days of life after implantation of an ICD; and the fifth child also had LQTS with 2:1 AV block and died suddenly at age 45 days. The sixth child was the proband, a boy who presented with torsades de pointes during the first week of life, and had multiple episodes of ventricular arrhythmia for which he received DC shocks and mechanical ventilation. ECG 4 days after birth showed prolonged QTc interval with 2:1 AV block, and he received a pacemaker in his second week of life. He did well despite a persistent QTc longer than 600 ms until age 4 years, when he died suddenly. The consanguineous parents were asymptomatic with normal ECGs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31454269" 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>Catecholaminergic Polymorphic Ventricular Tachycardia-6</em></strong></p><p>
<a href="#3" class="mim-tip-reference" title="Gomez-Hurtado, N., Boczek, N. J., Kryshtal, D. O., Johnson, C. N., Sun, J., Nitu, F. R., Cornea, R. L., Chazin, W. J., Calvert, M. L., Tester, D. J., Ackerman, M. J., Knollmann, B. C. &lt;strong&gt;Novel CPVT-associated calmodulin mutation in CALM3 (CALM3-A103V) activates arrhythmogenic Ca waves and sparks.&lt;/strong&gt; Circ. Arrhythm. Electrophysiol. 9: e004161, 2016. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/27516456/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;27516456&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/CIRCEP.116.004161&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="27516456">Gomez-Hurtado et al. (2016)</a> reported a 31-year-old woman who had repeated syncopal episodes beginning at age 10 years, often associated with physical exertion and 1 of which required cardiopulmonary resuscitation. ECG was unremarkable except for prominent U wave; QT interval was normal. Stress testing showed single premature ventricular contractions (PVCs) that increased to bigeminy. During epinephrine infusion, she also experienced bigeminal PVCs and a brief episode of nonsustained ventricular tachycardia triplets. The proband was initially diagnosed with atypical LQT syndrome and treated with beta blockers; treadmill stress tests while on beta blockers still showed PVCs in bigeminy and couplets, but with lower frequency. She remained event-free over 2 decades while on beta blockers, and CPVT was considered to be a more likely diagnosis. Family history was negative for arrhythmias or sudden death, although her mother described several fainting episodes in her youth. Parental stress testing revealed exercise-induced PVCs in the mother, but the father's test was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27516456" 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>In a review of 74 patients from the International Calmodulinopathy Registry and from the published literature who had mutations in the CALM1, CALM2, or CALM3 genes, <a href="#2" class="mim-tip-reference" title="Crotti, L., Spazzolini, C., Tester, D. J., Ghidoni, A., Baruteau, A.-E., Beckmann, B.-M., Behr, E. R., Bennet, J. S., Bezzina, C. R., Bhuiyan, Z. A., Celiker, A., Cerrone, M., and 29 others. &lt;strong&gt;Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.&lt;/strong&gt; Europ. Heart J. 40: 2964-2975, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31170290/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;31170290&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/eurheartj/ehz311&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="31170290">Crotti et al. (2019)</a> stated that beta-blocker therapy and left cardiac sympathetic denervation, effectively used for conventional LQTS and CPVT, offer surprisingly modest benefits in calmodulin-related arrhythmias, with patients often requiring an implantable cardioverter-defibrillator despite optimal medical therapy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31170290" 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>The transmission pattern of LQT16 in the families reported by <a href="#4" class="mim-tip-reference" title="Reed, G. J., Boczek, N. J., Etheridge, S. P., Ackerman, M. J. &lt;strong&gt;CALM3 mutation associated with long QT syndrome.&lt;/strong&gt; Heart Rhythm 12: 419-422, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25460178/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25460178&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.hrthm.2014.10.035&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25460178">Reed et al. (2015)</a> and <a href="#5" class="mim-tip-reference" title="Wren, L. M., Jimenez-Jaimez, J., Al-Ghamdi, S., Al-Aama, J. Y., Bdeir, A., Al-Hassnan, Z. N., Kuan, J. L., Foo, R. Y., Potet, F., Johnson, C. N., Aziz, M. C., Carvill, G. L., and 9 others. &lt;strong&gt;Genetic mosaicism in calmodulinopathy.&lt;/strong&gt; Circ. Genom. Precis. Med. 12: 375-385, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31454269/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;31454269&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/CIRCGEN.119.002581&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="31454269">Wren et al. (2019)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=31454269+25460178" 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>The transmission pattern of CPTV6 in the family reported by <a href="#3" class="mim-tip-reference" title="Gomez-Hurtado, N., Boczek, N. J., Kryshtal, D. O., Johnson, C. N., Sun, J., Nitu, F. R., Cornea, R. L., Chazin, W. J., Calvert, M. L., Tester, D. J., Ackerman, M. J., Knollmann, B. C. &lt;strong&gt;Novel CPVT-associated calmodulin mutation in CALM3 (CALM3-A103V) activates arrhythmogenic Ca waves and sparks.&lt;/strong&gt; Circ. Arrhythm. Electrophysiol. 9: e004161, 2016. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/27516456/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;27516456&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/CIRCEP.116.004161&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="27516456">Gomez-Hurtado et al. (2016)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27516456" 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>In a 6-month-old boy with severe long QT syndrome, who was negative for mutation in 12 known LQT-associated genes, <a href="#4" class="mim-tip-reference" title="Reed, G. J., Boczek, N. J., Etheridge, S. P., Ackerman, M. J. &lt;strong&gt;CALM3 mutation associated with long QT syndrome.&lt;/strong&gt; Heart Rhythm 12: 419-422, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25460178/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25460178&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.hrthm.2014.10.035&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25460178">Reed et al. (2015)</a> performed whole-exome sequencing with filtering that included a 1,629-gene LQTS nodal network. They identified 9 variants in 7 genes, of which a de novo missense mutation in the CALM3 gene (D130G; <a href="/entry/114183#0001">114183.0001</a>) obtained the highest ranking as the most likely causative mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25460178" 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 Spanish girl who died at age 5 years with LQTS (family A), who was negative for mutation in 8 LQTS-associated genes, <a href="#5" class="mim-tip-reference" title="Wren, L. M., Jimenez-Jaimez, J., Al-Ghamdi, S., Al-Aama, J. Y., Bdeir, A., Al-Hassnan, Z. N., Kuan, J. L., Foo, R. Y., Potet, F., Johnson, C. N., Aziz, M. C., Carvill, G. L., and 9 others. &lt;strong&gt;Genetic mosaicism in calmodulinopathy.&lt;/strong&gt; Circ. Genom. Precis. Med. 12: 375-385, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31454269/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;31454269&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/CIRCGEN.119.002581&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="31454269">Wren et al. (2019)</a> analyzed the 3 calmodulin genes and identified a heterozygous missense mutation in the CALM3 gene (E141K; <a href="/entry/114183#0003">114183.0003</a>). The mutation was not found in her asymptomatic father or in the gnomAD database; however, the asymptomatic mother carried the mutation in approximately 25% of sequencing reads, consistent with somatic mosaicism and presumed germline mosaicism, due to transmission of the variant. The same E141K variant was identified in heterozygosity in a Saudi Arabian boy with LQTS (family B), who was alive at 21 months of age. In another family with LQTS in which 5 of 6 sibs died suddenly in early childhood (family D), exon sequencing revealed heterozygosity for the D130G mutation in CALM3 in the 2 affected sibs for whom DNA was available. Exome sequencing did not detect the mutation in either unaffected parent or an unaffected sister; however, single-molecule molecular inversion probes revealed the c.389A-G variant (D130G) in 6% of captured molecules in the father's DNA, consistent with somatic mosaicism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31454269" 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>Catecholaminergic Polymorphic Ventricular Tachycardia 6</em></strong></p><p>
In a cohort of 12 patients with clinically diagnosed CPVT who were negative for mutation in known CPVT-associated genes, <a href="#3" class="mim-tip-reference" title="Gomez-Hurtado, N., Boczek, N. J., Kryshtal, D. O., Johnson, C. N., Sun, J., Nitu, F. R., Cornea, R. L., Chazin, W. J., Calvert, M. L., Tester, D. J., Ackerman, M. J., Knollmann, B. C. &lt;strong&gt;Novel CPVT-associated calmodulin mutation in CALM3 (CALM3-A103V) activates arrhythmogenic Ca waves and sparks.&lt;/strong&gt; Circ. Arrhythm. Electrophysiol. 9: e004161, 2016. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/27516456/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;27516456&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/CIRCEP.116.004161&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="27516456">Gomez-Hurtado et al. (2016)</a> performed DHPL chromatography and identified a heterozygous missense mutation in the CALM3 gene (A103V; <a href="/entry/114183#0002">114183.0002</a>) in a 31-year-old woman. Her mother, who had a history of fainting episodes in her youth and showed exercise-induced PVCs on stress testing, was also heterozygous for the A103V mutation; her asymptomatic father's stress test was negative and he did not carry the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27516456" 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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<a id="Boczek2016" class="mim-anchor"></a>
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Boczek, N. J., Gomez-Hurtado, N., Ye, D., Calvert, M. L., Tester, D. J., Kryshtal, D. O., Hwang, H. S., Johnson, C. N., Chazin, W. J., Loporcaro, C. G., Shah, M., Papez, A. L., Lau, Y. R., Kanter, R., Knollmann, B. C., Ackerman, M. J.
<strong>Spectrum and prevalence of CALM1-, CALM2-, and CALM3-encoded calmodulin variants in long QT syndrome and functional characterization of a novel long QT syndrome-associated calmodulin missense variant, E141G.</strong>
Circ. Cardiovasc. Genet. 9: 136-146, 2016.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26969752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26969752</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26969752" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1161/CIRCGENETICS.115.001323" target="_blank">Full Text</a>]
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Crotti, L., Spazzolini, C., Tester, D. J., Ghidoni, A., Baruteau, A.-E., Beckmann, B.-M., Behr, E. R., Bennet, J. S., Bezzina, C. R., Bhuiyan, Z. A., Celiker, A., Cerrone, M., and 29 others.
<strong>Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.</strong>
Europ. Heart J. 40: 2964-2975, 2019.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31170290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31170290</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31170290" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/eurheartj/ehz311" target="_blank">Full Text</a>]
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Gomez-Hurtado, N., Boczek, N. J., Kryshtal, D. O., Johnson, C. N., Sun, J., Nitu, F. R., Cornea, R. L., Chazin, W. J., Calvert, M. L., Tester, D. J., Ackerman, M. J., Knollmann, B. C.
<strong>Novel CPVT-associated calmodulin mutation in CALM3 (CALM3-A103V) activates arrhythmogenic Ca waves and sparks.</strong>
Circ. Arrhythm. Electrophysiol. 9: e004161, 2016. Note: Electronic Article.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27516456/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27516456</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27516456" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1161/CIRCEP.116.004161" target="_blank">Full Text</a>]
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Reed, G. J., Boczek, N. J., Etheridge, S. P., Ackerman, M. J.
<strong>CALM3 mutation associated with long QT syndrome.</strong>
Heart Rhythm 12: 419-422, 2015.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25460178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25460178</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25460178" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.hrthm.2014.10.035" target="_blank">Full Text</a>]
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Wren, L. M., Jimenez-Jaimez, J., Al-Ghamdi, S., Al-Aama, J. Y., Bdeir, A., Al-Hassnan, Z. N., Kuan, J. L., Foo, R. Y., Potet, F., Johnson, C. N., Aziz, M. C., Carvill, G. L., and 9 others.
<strong>Genetic mosaicism in calmodulinopathy.</strong>
Circ. Genom. Precis. Med. 12: 375-385, 2019.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31454269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31454269</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31454269" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1161/CIRCGEN.119.002581" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 02/25/2020
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Marla J. F. O&#x27;Neill : 02/18/2020
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carol : 03/19/2021
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alopez : 02/25/2020<br>alopez : 02/25/2020<br>carol : 02/20/2020<br>alopez : 02/19/2020
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<strong>#</strong> 618782
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LONG QT SYNDROME 16; LQT16
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Other entities represented in this entry:
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VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC 6, INCLUDED; CPVT6, INCLUDED
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<strong>DO:</strong> 0070533; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Inheritance
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Phenotype <br /> mapping key
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19q13.32
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?Ventricular tachycardia, catecholaminergic polymorphic 6
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Autosomal dominant
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3
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CALM3
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114183
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19q13.32
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Long QT syndrome 16
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618782
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Autosomal dominant
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3
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CALM3
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114183
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that long QT syndrome-16 (LQT16) and catecholaminergic polymorphic ventricular tachycardia-6 (CPVT6) are caused by heterozygous mutation in the CALM3 gene (114183) on chromosome 19q13. One family with CPVT6 has been reported.</p><p>For a general phenotypic description and discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500).</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of CPVT, see 604772.</p>
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<p><strong><em>LQT16</em></strong></p><p>
Long QT syndrome-16 (LQT16) is characterized by a markedly prolonged corrected QT (QTc) interval and 2:1 atrioventricular (AV) block, with onset in the perinatal period. Patients experience bradycardia or ventricular tachyarrhythmias that may result in syncope, cardiac arrest, and/or sudden death (Reed et al., 2015; Wren et al., 2019). </p><p>Patients with LQT14 (616247), LQT15 (616249), or LQT16, resulting from mutation in calmodulin genes CALM1 (114180), CALM2 (114182), or CALM3, respectively, typically have a more severe phenotype, with earlier onset, profound QT prolongation, and a high predilection for cardiac arrest and sudden death, than patients with mutations in other genes (Boczek et al., 2016). </p><p><strong><em>CPVT6</em></strong></p><p>
Catecholaminergic polymorphic ventricular tachycardia-6 (CPVT6) is characterized by childhood-onset syncopal episodes with exercise or stress. Electrocardiogram (ECG) shows a normal QT interval with a prominent U wave, and stress testing reveals premature ventricular contractions (PVCs) that may occur as bigeminy or couplets, and nonsustained ventricular tachycardia (Gomez-Hurtado et al., 2016). </p>
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<p>Reed et al. (2015) reported a 6-month-old boy in whom fetal ultrasound at 27 weeks was normal with no mention of bradycardia, but who had decelerations and meconium staining at delivery, with heart rates in the 60s and hypotonia during the first 8 hours of life. ECG showed bradycardia with sinus rhythm, 2:1 AV block, T-wave alternans, and profound QT prolongation, with a QTc interval of 690 ms. Echocardiogram revealed ventricular septal defect (VSD), patent ductus arteriosus, and right ventricular dilation with normal function. He continued to show functional second-degree AV block due to extremely prolonged QT intervals, and underwent placement of a single-chamber pacemaker. He was also treated for pulmonary hypertension. ECG at 5 weeks of age revealed that the QTc interval had stabilized at 579 ms and the 2:1 AV block had resolved. Follow-up at age 6 months showed persistent marked QT prolongation; however, no arrhythmias had been detected by ECG or device interrogation. Pulmonary hypertension had resolved, the patent ductus had closed, and the VSD was small. His unrelated parents had no history of syncope, and there was no family history of sudden death. </p><p>Wren et al. (2019) studied 4 patients from 3 families with long QT syndrome and mutations in the CALM3 gene. In family A, the proband was a Spanish girl with fetal sinus bradycardia at 16 weeks' gestation in whom ECG at birth showed profound bradycardia at 61 bpm and 2:1 AV block with markedly prolonged QTc intervals of 725 ms, as well as transient episodes of T-wave alternans. At day 23 of life, the patient experienced cardiac arrest; ECG at time of resuscitation showed ventricular fibrillation (VF). An epicardial cardioverter defibrillator (ICD) was implanted, and she experienced 2 appropriate ICD discharges at age 3 years while on propanolol. At age 4, she developed symptomatic hypoglycemia, and the propanolol dose was reduced; however, at age 5, she had hypoglycemic coma and died. Her mother had 3 spontaneous miscarriages and terminated 2 other pregnancies, 1 due to fetal bradycardia and 1 due to spina bifida. In family B, the proband was a 21-month-old boy, born of unrelated Saudi Arabian parents, who had bradycardia (45 to 60 bpm) at 12 hours of life. ECG showed bradycardia and prolonged QTc (660 ms). Treatment with propanolol did not change the QTc duration, and several months later a pacemaker was implanted because of syncope and recurrent 2:1 AV block. At age 21 months, he was doing well without syncope. His parents and nonidentical twin sister were asymptomatic and had normal ECGs with normal QTc intervals. In family D, 5 of 6 sibs experienced sudden death in childhood: the first child had seizures and died at age 6 years; the second at 45 days; the third was asymptomatic at age 13 years; the fourth had fetal bradycardia and exhibited LQTS with 2:1 AV block, and died suddenly at 10 days of life after implantation of an ICD; and the fifth child also had LQTS with 2:1 AV block and died suddenly at age 45 days. The sixth child was the proband, a boy who presented with torsades de pointes during the first week of life, and had multiple episodes of ventricular arrhythmia for which he received DC shocks and mechanical ventilation. ECG 4 days after birth showed prolonged QTc interval with 2:1 AV block, and he received a pacemaker in his second week of life. He did well despite a persistent QTc longer than 600 ms until age 4 years, when he died suddenly. The consanguineous parents were asymptomatic with normal ECGs. </p><p><strong><em>Catecholaminergic Polymorphic Ventricular Tachycardia-6</em></strong></p><p>
Gomez-Hurtado et al. (2016) reported a 31-year-old woman who had repeated syncopal episodes beginning at age 10 years, often associated with physical exertion and 1 of which required cardiopulmonary resuscitation. ECG was unremarkable except for prominent U wave; QT interval was normal. Stress testing showed single premature ventricular contractions (PVCs) that increased to bigeminy. During epinephrine infusion, she also experienced bigeminal PVCs and a brief episode of nonsustained ventricular tachycardia triplets. The proband was initially diagnosed with atypical LQT syndrome and treated with beta blockers; treadmill stress tests while on beta blockers still showed PVCs in bigeminy and couplets, but with lower frequency. She remained event-free over 2 decades while on beta blockers, and CPVT was considered to be a more likely diagnosis. Family history was negative for arrhythmias or sudden death, although her mother described several fainting episodes in her youth. Parental stress testing revealed exercise-induced PVCs in the mother, but the father's test was normal. </p>
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<strong>Clinical Management</strong>
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<p>In a review of 74 patients from the International Calmodulinopathy Registry and from the published literature who had mutations in the CALM1, CALM2, or CALM3 genes, Crotti et al. (2019) stated that beta-blocker therapy and left cardiac sympathetic denervation, effectively used for conventional LQTS and CPVT, offer surprisingly modest benefits in calmodulin-related arrhythmias, with patients often requiring an implantable cardioverter-defibrillator despite optimal medical therapy. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of LQT16 in the families reported by Reed et al. (2015) and Wren et al. (2019) was consistent with autosomal dominant inheritance. </p><p>The transmission pattern of CPTV6 in the family reported by Gomez-Hurtado et al. (2016) was consistent with autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In a 6-month-old boy with severe long QT syndrome, who was negative for mutation in 12 known LQT-associated genes, Reed et al. (2015) performed whole-exome sequencing with filtering that included a 1,629-gene LQTS nodal network. They identified 9 variants in 7 genes, of which a de novo missense mutation in the CALM3 gene (D130G; 114183.0001) obtained the highest ranking as the most likely causative mutation. </p><p>In a Spanish girl who died at age 5 years with LQTS (family A), who was negative for mutation in 8 LQTS-associated genes, Wren et al. (2019) analyzed the 3 calmodulin genes and identified a heterozygous missense mutation in the CALM3 gene (E141K; 114183.0003). The mutation was not found in her asymptomatic father or in the gnomAD database; however, the asymptomatic mother carried the mutation in approximately 25% of sequencing reads, consistent with somatic mosaicism and presumed germline mosaicism, due to transmission of the variant. The same E141K variant was identified in heterozygosity in a Saudi Arabian boy with LQTS (family B), who was alive at 21 months of age. In another family with LQTS in which 5 of 6 sibs died suddenly in early childhood (family D), exon sequencing revealed heterozygosity for the D130G mutation in CALM3 in the 2 affected sibs for whom DNA was available. Exome sequencing did not detect the mutation in either unaffected parent or an unaffected sister; however, single-molecule molecular inversion probes revealed the c.389A-G variant (D130G) in 6% of captured molecules in the father's DNA, consistent with somatic mosaicism. </p><p><strong><em>Catecholaminergic Polymorphic Ventricular Tachycardia 6</em></strong></p><p>
In a cohort of 12 patients with clinically diagnosed CPVT who were negative for mutation in known CPVT-associated genes, Gomez-Hurtado et al. (2016) performed DHPL chromatography and identified a heterozygous missense mutation in the CALM3 gene (A103V; 114183.0002) in a 31-year-old woman. Her mother, who had a history of fainting episodes in her youth and showed exercise-induced PVCs on stress testing, was also heterozygous for the A103V mutation; her asymptomatic father's stress test was negative and he did not carry the mutation. </p>
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<strong>REFERENCES</strong>
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Boczek, N. J., Gomez-Hurtado, N., Ye, D., Calvert, M. L., Tester, D. J., Kryshtal, D. O., Hwang, H. S., Johnson, C. N., Chazin, W. J., Loporcaro, C. G., Shah, M., Papez, A. L., Lau, Y. R., Kanter, R., Knollmann, B. C., Ackerman, M. J.
<strong>Spectrum and prevalence of CALM1-, CALM2-, and CALM3-encoded calmodulin variants in long QT syndrome and functional characterization of a novel long QT syndrome-associated calmodulin missense variant, E141G.</strong>
Circ. Cardiovasc. Genet. 9: 136-146, 2016.
[PubMed: 26969752]
[Full Text: https://doi.org/10.1161/CIRCGENETICS.115.001323]
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Crotti, L., Spazzolini, C., Tester, D. J., Ghidoni, A., Baruteau, A.-E., Beckmann, B.-M., Behr, E. R., Bennet, J. S., Bezzina, C. R., Bhuiyan, Z. A., Celiker, A., Cerrone, M., and 29 others.
<strong>Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.</strong>
Europ. Heart J. 40: 2964-2975, 2019.
[PubMed: 31170290]
[Full Text: https://doi.org/10.1093/eurheartj/ehz311]
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Gomez-Hurtado, N., Boczek, N. J., Kryshtal, D. O., Johnson, C. N., Sun, J., Nitu, F. R., Cornea, R. L., Chazin, W. J., Calvert, M. L., Tester, D. J., Ackerman, M. J., Knollmann, B. C.
<strong>Novel CPVT-associated calmodulin mutation in CALM3 (CALM3-A103V) activates arrhythmogenic Ca waves and sparks.</strong>
Circ. Arrhythm. Electrophysiol. 9: e004161, 2016. Note: Electronic Article.
[PubMed: 27516456]
[Full Text: https://doi.org/10.1161/CIRCEP.116.004161]
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Reed, G. J., Boczek, N. J., Etheridge, S. P., Ackerman, M. J.
<strong>CALM3 mutation associated with long QT syndrome.</strong>
Heart Rhythm 12: 419-422, 2015.
[PubMed: 25460178]
[Full Text: https://doi.org/10.1016/j.hrthm.2014.10.035]
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Wren, L. M., Jimenez-Jaimez, J., Al-Ghamdi, S., Al-Aama, J. Y., Bdeir, A., Al-Hassnan, Z. N., Kuan, J. L., Foo, R. Y., Potet, F., Johnson, C. N., Aziz, M. C., Carvill, G. L., and 9 others.
<strong>Genetic mosaicism in calmodulinopathy.</strong>
Circ. Genom. Precis. Med. 12: 375-385, 2019.
[PubMed: 31454269]
[Full Text: https://doi.org/10.1161/CIRCGEN.119.002581]
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