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<title>
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Entry
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- %607086 - AORTIC ANEURYSM, FAMILIAL THORACIC 1; AAT1
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- OMIM
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<span class="h4">%607086</span>
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<a href="/phenotypicSeries/PS607086"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="http://www.informatics.jax.org/disease/607086" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:607086" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 253646008, 433068007, 45894003<br />
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<strong>ORPHA:</strong> 229, 91387<br />
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<strong>DO:</strong> 14004<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description or locus, molecular basis unknown">
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<span class="text-danger"><strong>%</strong></span>
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607086
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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AORTIC ANEURYSM, FAMILIAL THORACIC 1; AAT1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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FAA1<br />
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ANNULOAORTIC ECTASIA<br />
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AORTIC DISSECTION, FAMILIAL<br />
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AORTIC ANEURYSM, FAMILIAL THORACIC<br />
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ANEURYSM, THORACIC AORTIC
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="includedTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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ERDHEIM CYSTIC MEDIAL NECROSIS OF AORTA, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/11/951?start=-3&limit=10&highlight=951">11q23.3-q24</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:114600001-130900000&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">11:114,600,001-130,900,000</a> </span>
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</em>
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</strong>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
|
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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|
Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
|
|
Phenotype <br /> mapping key
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</th>
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</tr>
|
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</thead>
|
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<tbody>
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<tr>
|
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<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/11/951?start=-3&limit=10&highlight=951">
|
|
11q23.3-q24
|
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Aortic aneurysm, familial thoracic 1
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
|
<a href="/entry/607086"> 607086 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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</span>
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</td>
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<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods">2</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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|
|
<a href="/phenotypicSeries/PS607086" class="btn btn-info" role="button"> Phenotypic Series </a>
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|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
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</button>
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</div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/607086" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/607086" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<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>
|
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<p />
|
|
</div>
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|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small">
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Aortic aneurysm, familial thoracic
|
|
- <a href="/phenotypicSeries/PS607086">PS607086</a>
|
|
- 12 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/1/594?start=-3&limit=10&highlight=594"> 1p33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617349"> {Aortic aneurysm, familial thoracic 11, 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/617349"> 617349 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601094"> FOXE3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601094"> 601094 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/135?start=-3&limit=10&highlight=135"> 3p24.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610168"> Loeys-Dietz 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/610168"> 610168 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/190182"> TGFBR2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/190182"> 190182 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/621?start=-3&limit=10&highlight=621"> 3q21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613780"> Aortic aneurysm, familial thoracic 7 </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/613780"> 613780 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600922"> MYLK </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600922"> 600922 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/215?start=-3&limit=10&highlight=215"> 5q13-q14 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607087"> Aortic aneurysm, familial thoracic 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607087"> 607087 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607087"> AAT2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607087"> 607087 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/397?start=-3&limit=10&highlight=397"> 5q23.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617168"> Aortic aneurysm, familial thoracic 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/617168"> 617168 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/153455"> LOX </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/153455"> 153455 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/355?start=-3&limit=10&highlight=355"> 9q22.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609192"> Loeys-Dietz 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>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>Aneurysms and dissections of the aorta usually result from degenerative changes in the aortic wall. Thoracic aortic aneurysms and dissections are primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. In contrast, degeneration leading to abdominal aortic aneurysm (<a href="/entry/100070">100070</a>) is usually caused by a combination of factors including age, atherosclerosis, hypertension, and infectious, inflammatory, or autoimmune processes.</p><p>Medial necrosis and thoracic aortic aneurysm/dissection are known to occur in certain connective tissue diseases such as Marfan syndrome (<a href="/entry/154700">154700</a>), and vascular (type IV) Ehlers-Danlos syndrome (<a href="/entry/130050">130050</a>). More commonly, however, medial necrosis occurs in the absence of a clearly identifiable syndrome.</p><p><strong><em>Genetic Heterogeneity of Thoracic Aortic Aneurysm</em></strong></p><p>
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Loci for isolated thoracic aortic aneurysm have been identified on chromosomes 11q (AAT1) and 5q (AAT2; <a href="/entry/607087">607087</a>). Mutation in the MYH11 gene (<a href="/entry/160745">160745</a>) on chromosome 16p causes AAT4 (<a href="/entry/132900">132900</a>). Mutation in the ACTA2 gene (<a href="/entry/102620">102620</a>) on chromosome 10q causes AAT6 (<a href="/entry/611788">611788</a>). Mutation in the MYLK gene (<a href="/entry/600922">600922</a>) on chromosome 3q21 causes AAT7 (<a href="/entry/613780">613780</a>). Mutation in the PRKG1 gene (<a href="/entry/176894">176894</a>) on chromosome 10q11 causes AAT8 (<a href="/entry/615436">615436</a>). Mutation in the MFAP5 gene (<a href="/entry/601103">601103</a>) on chromosome 12p13 causes AAT9 (<a href="/entry/616166">616166</a>). Mutation in the LOX gene (<a href="/entry/153455">153455</a>) on chromosome 5q23 causes AAT10 (<a href="/entry/617168">617168</a>). Mutation in the FOXE3 gene (<a href="/entry/601094">601094</a>) on chromosome 1p33 causes susceptibility to AAT11 (<a href="/entry/617349">617349</a>).</p><p>Thoracic aortic aneurysm with dissection (e.g., AAT3 and AAT5) can occur as a manifestation of the Loeys-Dietz syndrome (see LDS2, <a href="/entry/610168">610168</a> and LDS1, <a href="/entry/609192">609192</a>, caused by mutation in the TGFBR2 (<a href="/entry/190182">190182</a>) and TGFBR1 (<a href="/entry/190181">190181</a>) genes, respectively).</p><p><strong><em>Reviews</em></strong></p><p>
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<a href="#20" class="mim-tip-reference" title="Pyeritz, R. E. <strong>Heritable thoracic aortic disorders.</strong> Curr. Opin. Cardiol. 29: 97-102, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24284977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24284977</a>] [<a href="https://doi.org/10.1097/HCO.0000000000000023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24284977">Pyeritz (2014)</a> reviewed heritable thoracic aortic disorders with particular attention to causative genes, including components of the extracellular matrix, vascular smooth muscle cytoskeleton, and TGF-beta and other signaling pathways. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24284977" 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="#14" class="mim-tip-reference" title="McKusick, V. A. <strong>Association of aortic valvular disease and cystic medial necrosis. (Letter)</strong> Lancet 299: 1026-1027, 1972. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4112361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4112361</a>] [<a href="https://doi.org/10.1016/s0140-6736(72)91211-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4112361">McKusick (1972)</a> noted the association between congenital bicuspid aortic valve and medial necrosis of the aorta in a father and son. <a href="#4" class="mim-tip-reference" title="Gale, A. N., McKusick, V. A., Hutchins, G. M., Gott, V. L. <strong>Familial congenital bicuspid aortic valve: secondary calcific aortic stenosis and aortic aneurysm.</strong> Chest 72: 668-670, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/913155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">913155</a>] [<a href="https://doi.org/10.1378/chest.72.5.668" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="913155">Gale et al. (1977)</a> observed 2 brothers with calcific stenosis of a congenital bicuspid aortic valve. One brother had a large aneurysm of the ascending aorta. The second had moderate dilatation. The association of aortic stenosis and cystic medial necrosis was documented by <a href="#13" class="mim-tip-reference" title="McKusick, V. A., Logue, R. B., Bahnson, H. T. <strong>Association of aortic valvular disease and cystic medial necrosis of the ascending aorta: report of four instances.</strong> Circulation 16: 188-194, 1957.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13447162/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13447162</a>] [<a href="https://doi.org/10.1161/01.cir.16.2.188" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13447162">McKusick et al. (1957)</a>. <a href="#11" class="mim-tip-reference" title="Lindsay, J., Jr. <strong>Coarctation of the aorta, bicuspid aortic valve and abnormal ascending aortic wall.</strong> Am. J. Cardiol. 61: 182-184, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3276120/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3276120</a>] [<a href="https://doi.org/10.1016/0002-9149(88)91327-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3276120">Lindsay (1988)</a> reviewed the evidence for an interrelationship between coarctation of the aorta, bicuspid aortic valve, and abnormal ascending aortic wall. The correlation between the first 2 had been pointed out by <a href="#1" class="mim-tip-reference" title="Abbott, M. E. <strong>Coarctation of the aorta of the adult type.</strong> Am. Heart J. 3: 381-421, 1928."None>Abbott (1928)</a>. By echocardiographic study, <a href="#18" class="mim-tip-reference" title="Pachulski, R. T., Weinberg, A. L., Chan, K.-L. <strong>Aortic aneurysm in patients with functionally normal or minimally stenotic bicuspid aortic valve.</strong> Am. J. Cardiol. 67: 781-782, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2006634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2006634</a>] [<a href="https://doi.org/10.1016/0002-9149(91)90544-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2006634">Pachulski et al. (1991)</a> demonstrated increased mean aortic root diameter in patients with functionally normal or minimally stenotic bicuspid aortic valves. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2006634+913155+3276120+4112361+13447162" 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="#2" class="mim-tip-reference" title="Bixler, D., Antley, R. M. <strong>Familial aortic dissection with iris anomalies--a new connective tissue disease syndrome?</strong> Birth Defects Orig. Art. Ser. XII(5): 229-234, 1976."None>Bixler and Antley (1976)</a> reported a possibly distinct entity combining Erdheim cystic medial necrosis (leading to dissection) and ectopia of the pigment layer of the iris onto the anterior surface of the iris. In 1 patient this created an appearance suggesting coloboma. This anomaly was referred to as iris flocculi by <a href="#9" class="mim-tip-reference" title="Lewis, R. A., Merin, L. M. <strong>Iris flocculi and familial aortic dissection.</strong> Arch. Ophthal. 113: 1330-1331, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7575269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7575269</a>] [<a href="https://doi.org/10.1001/archopht.1995.01100100118041" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7575269">Lewis and Merin (1995)</a>, who likewise found association with familial aortic dissection; see AAT6, <a href="/entry/611788">611788</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7575269" 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>Erdheim cystic medial necrosis with dissecting aneurysm was reported in brothers (<a href="#5" class="mim-tip-reference" title="Graham, J. G., Milne, J. A. <strong>Dissecting aneurysm of the aorta: a review of 29 cases.</strong> Glasgow Med. J. 33: 320-330, 1952.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12980374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12980374</a>]" pmid="12980374">Graham and Milne, 1952</a>; <a href="#23" class="mim-tip-reference" title="Von Meyenburg, H. <strong>Ueber spontane Aortenruptur bei zwei Bruedern.</strong> Schweiz. Med. Wschr. 20: 976-979, 1939."None>von Meyenburg, 1939</a>), in father and son (<a href="#3" class="mim-tip-reference" title="Fleming, J. W., Helwig, F. C. <strong>Medionecrosis aortae idiopathica cystica with spontaneous rupture. Report of three cases with necropsies.</strong> J. Mo. Med. Assoc. 38: 86-88, 1941."None>Fleming and Helwig, 1941</a>), and in mother and daughter (<a href="#6" class="mim-tip-reference" title="Griffiths, G. J., Hayhurst, A. P., Whitehead, R. <strong>Dissecting aneurysm of aorta in mother and child.</strong> Brit. Heart J. 13: 364-368, 1951.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14848392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14848392</a>] [<a href="https://doi.org/10.1136/hrt.13.3.364" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14848392">Griffiths et al., 1951</a>), but clinical information in these reports was too scanty to permit exclusion of the Marfan syndrome (<a href="/entry/154700">154700</a>). <a href="#7" class="mim-tip-reference" title="Hanley, W. B., Jones, N. B. <strong>Familial dissecting aortic aneurysm. A report of three cases within two generations.</strong> Brit. Heart J. 29: 852-858, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4228664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4228664</a>] [<a href="https://doi.org/10.1136/hrt.29.6.852" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4228664">Hanley and Jones (1967)</a> reported dissecting aortic aneurysm in 2 sisters and the son of one of them. No stigmata of Marfan syndrome were present. <a href="#8" class="mim-tip-reference" title="Humphries, J. O., Ingle, J. N., Norum, R. A. <strong>Dissecting aneurysm of the aorta in mother and daughter.</strong> Birth Defects Orig. Art. Ser. VIII(5): 185-187, 1972."None>Humphries et al. (1972)</a> reported dissecting aortic aneurysm in mother and daughter. <a href="#10" class="mim-tip-reference" title="Lichtenstein, J. <strong>Erdheim's cystic medial necrosis in father and son.</strong> Birth Defects Orig. Art. Ser. VIII(5): 282-283, 1972."None>Lichtenstein (1972)</a> reported Erdheim cystic medial necrosis in father and son. <a href="#16" class="mim-tip-reference" title="Opitz, J. M. <strong>Personal Communication.</strong> Madison, Wis. 8/31/1973."None>Opitz (1973)</a> studied a family with isolated medial necrosis in a young woman, her father, and her father's father, and later (<a href="#17" class="mim-tip-reference" title="Opitz, J. M. <strong>Personal Communication.</strong> Helena, Mont. 1982."None>Opitz, 1982</a>) referred to 2 other well-documented families. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12980374+4228664+14848392" 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="#15" class="mim-tip-reference" title="McManus, B. M., Cassling, R. S., Soundy, T. J., Wilson, J. E., Sears, T. D., Rogler, W. C., Buehler, B. A., Wolford, J. F., Duggan, M. J., Byers, P. H., Fleming, W. H., Sanger, W. G. <strong>Familial aortic dissection in absence of ascending aortic aneurysms: a lethal syndrome associated with precocious systemic hypertension.</strong> Am. J. Cardiovasc. Pathol. 1: 55-67, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3455236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3455236</a>]" pmid="3455236">McManus et al. (1987)</a> described a family in which 6 members spanning 3 generations died of acute dissection of the aorta; 5 were men who died at a mean age of 28 years (range 22 to 34), while the sixth was the proband's paternal grandmother, who died at 62 years of age. All were hypertensive. Dilatation of the aortic root or aneurysms in the aorta were absent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3455236" 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="#21" class="mim-tip-reference" title="Toyama, M., Amano, A., Kameda, T. <strong>Familial aortic dissection: a report of rare family cluster.</strong> Brit. Heart J. 61: 204-207, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2923761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2923761</a>] [<a href="https://doi.org/10.1136/hrt.61.2.204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2923761">Toyama et al. (1989)</a> observed acute aortic dissection in 3 of 4 sibs without signs of Marfan syndrome. The mother died at age 55 of acute dissection, as did several of her sibs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2923761" 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="#19" class="mim-tip-reference" title="Pyeritz, R. E. <strong>Personal Communication.</strong> Baltimore, Md. 7/1990."None>Pyeritz (1990)</a> pointed out that in the familial aortic dissection cases the aortic root often does not have the bulbous appearance characteristic of the Marfan syndrome. Furthermore, aortic dissection may occur with degrees of dilatation in the first part of the ascending aorta that would not ordinarily be considered dangerous in the Marfan syndrome.</p><p><a href="#22" class="mim-tip-reference" title="Vaughan, C. J., Casey, M., He, J., Veuglers, M., Henderson, K., Guo, D., Campagna, R., Roman, M. J., Milewicz, D. M., Devereux, R. B., Basson, C. T. <strong>Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder.</strong> Circulation 103: 2469-2475, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11369687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11369687</a>] [<a href="https://doi.org/10.1161/01.cir.103.20.2469" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11369687">Vaughan et al. (2001)</a> reported 3 families in which thoracic aortic aneurysms associated, in some individuals, with aneurysms elsewhere in the arterial tree and segregated as an autosomal dominant trait. Marfan syndrome (<a href="/entry/154700">154700</a>) and Ehlers-Danlos syndrome (<a href="/entry/130050">130050</a>) had been excluded on phenotypic grounds. In family ANA the proband had presented at the age of 36 with a 5.7-cm ascending thoracic aortic aneurysm and a type I aortic dissection. Aortic pathology revealed cystic medial necrosis. Echocardiographic screening detected 13 additional affected family members from 20 at risk, with ages ranging from 2.5 to 65. Sinuses of Valsalva were dilated in all but 1 affected person. One individual had an abdominal aortic aneurysm and another had an aneurysm of the left subclavian artery. In family ANB the proband had repair of a type I aortic dissection at the age of 34 and subsequently underwent repair of abdominal and aortic arch aneurysms. Seven of 14 at-risk family members had dilated aortas. In the third family (ANF), the proband again presented in his early thirties with a thoracic aortic aneurysm. Seven of 11 at-risk family members had aortic dilatation at the level of the sinuses of Valsalva. One affected individual had bilateral fifth digit contractures, retinal detachment, and cataracts, and a further individual had similar finger contractures and mild pectus excavatum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11369687" 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="#12" class="mim-tip-reference" title="Loscalzo, M. L., Goh, D. L. M., Loeys, B., Kent, K. C., Spevak, P. J., Dietz, H. C. <strong>Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance.</strong> Am. J. Med. Genet. 143A: 1960-1967, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17676603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17676603</a>] [<a href="https://doi.org/10.1002/ajmg.a.31872" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17676603">Loscalzo et al. (2007)</a> performed a prospective study of 13 families with biscuspid aortic valve (BAV; <a href="/entry/607086">607086</a>) and thoracic aortic aneurysm. All 13 families had multiple affected members, often in more than 1 generation, consistent with an autosomal dominant pattern of inheritance. Thirty-five percent (39/110) of family members had BAV/AAT or TAA alone. Two families had nonmanifesting obligate carriers, and 3 families had additional left outflow tract anomalies including coarctation of the aorta in 2 families and hypoplastic left heart syndrome in 1 family, suggesting reduced penetrance and variable expressivity. <a href="#12" class="mim-tip-reference" title="Loscalzo, M. L., Goh, D. L. M., Loeys, B., Kent, K. C., Spevak, P. J., Dietz, H. C. <strong>Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance.</strong> Am. J. Med. Genet. 143A: 1960-1967, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17676603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17676603</a>] [<a href="https://doi.org/10.1002/ajmg.a.31872" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17676603">Loscalzo et al. (2007)</a> suggested that BAV and AAT are independent manifestations of a single gene defect. They sequenced the TGFBR1 (<a href="/entry/190181">190181</a>) and TGFBR2 (<a href="/entry/190182">190182</a>) genes in 1 proband in each family, but found no mutations in either gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17676603" 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>Among the families reported by <a href="#22" class="mim-tip-reference" title="Vaughan, C. J., Casey, M., He, J., Veuglers, M., Henderson, K., Guo, D., Campagna, R., Roman, M. J., Milewicz, D. M., Devereux, R. B., Basson, C. T. <strong>Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder.</strong> Circulation 103: 2469-2475, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11369687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11369687</a>] [<a href="https://doi.org/10.1161/01.cir.103.20.2469" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11369687">Vaughan et al. (2001)</a> with autosomal dominant thoracic aortic aneurysms, linkage to FBN1 (<a href="/entry/134797">134797</a>), FBN2 (<a href="/entry/612570">612570</a>), COL3A1 (<a href="/entry/120180">120180</a>), and the locus on 5q13-q14 (AAT2; <a href="/entry/607087">607087</a>) was initially excluded in family ANA. An initial genomewide linkage analysis using highly polymorphic STRs revealed linkage by 2-point lod score to chromosome 11q microsatellites, with a maximum lod score of 3.35 at theta = 0.06 at marker D11S1356. Further multipoint analyses revealed a maximum lod score of 4.4 at a locus 1.1 cM telomeric to D11S1356, and haplotype analyses refined the disease interval to a 2.3-cM locus at chromosome 11q23.3-q24 between D11S1341 and AFMB031WC9. Candidate genes mapping to this interval were screened for mutations, but none was identified. The authors assigned the symbol FAA1 to this locus. Family ANB was linked to FBN1, and linkage to both FBN1 and FAA1 was excluded in family ANF. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11369687" 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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For discussion of a possible association between variation in the MAT2A gene and thoracic aortic aneurysm, see <a href="/entry/601468#0001">601468.0001</a>.</p>
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Abbott, M. E.
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<strong>Coarctation of the aorta of the adult type.</strong>
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Am. Heart J. 3: 381-421, 1928.
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Bixler, D., Antley, R. M.
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<strong>Familial aortic dissection with iris anomalies--a new connective tissue disease syndrome?</strong>
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Birth Defects Orig. Art. Ser. XII(5): 229-234, 1976.
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<strong>Medionecrosis aortae idiopathica cystica with spontaneous rupture. Report of three cases with necropsies.</strong>
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J. Mo. Med. Assoc. 38: 86-88, 1941.
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Gale, A. N., McKusick, V. A., Hutchins, G. M., Gott, V. L.
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<strong>Familial congenital bicuspid aortic valve: secondary calcific aortic stenosis and aortic aneurysm.</strong>
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Chest 72: 668-670, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/913155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">913155</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=913155" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1378/chest.72.5.668" target="_blank">Full Text</a>]
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Glasgow Med. J. 33: 320-330, 1952.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12980374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12980374</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12980374" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14848392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14848392</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14848392" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/hrt.13.3.364" target="_blank">Full Text</a>]
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<strong>Familial dissecting aortic aneurysm. A report of three cases within two generations.</strong>
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Brit. Heart J. 29: 852-858, 1967.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4228664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4228664</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4228664" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/hrt.29.6.852" target="_blank">Full Text</a>]
|
|
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|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Humphries1972" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Humphries, J. O., Ingle, J. N., Norum, R. A.
|
|
<strong>Dissecting aneurysm of the aorta in mother and daughter.</strong>
|
|
Birth Defects Orig. Art. Ser. VIII(5): 185-187, 1972.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Lewis1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lewis, R. A., Merin, L. M.
|
|
<strong>Iris flocculi and familial aortic dissection.</strong>
|
|
Arch. Ophthal. 113: 1330-1331, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7575269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7575269</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7575269" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archopht.1995.01100100118041" target="_blank">Full Text</a>]
|
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|
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</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Lichtenstein1972" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lichtenstein, J.
|
|
<strong>Erdheim's cystic medial necrosis in father and son.</strong>
|
|
Birth Defects Orig. Art. Ser. VIII(5): 282-283, 1972.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Lindsay1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lindsay, J., Jr.
|
|
<strong>Coarctation of the aorta, bicuspid aortic valve and abnormal ascending aortic wall.</strong>
|
|
Am. J. Cardiol. 61: 182-184, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3276120/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3276120</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3276120" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
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|
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[<a href="https://doi.org/10.1016/0002-9149(88)91327-6" target="_blank">Full Text</a>]
|
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</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Loscalzo2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Loscalzo, M. L., Goh, D. L. M., Loeys, B., Kent, K. C., Spevak, P. J., Dietz, H. C.
|
|
<strong>Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance.</strong>
|
|
Am. J. Med. Genet. 143A: 1960-1967, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17676603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17676603</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17676603" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1002/ajmg.a.31872" target="_blank">Full Text</a>]
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|
|
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<li>
|
|
<a id="13" class="mim-anchor"></a>
|
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<a id="McKusick1957" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McKusick, V. A., Logue, R. B., Bahnson, H. T.
|
|
<strong>Association of aortic valvular disease and cystic medial necrosis of the ascending aorta: report of four instances.</strong>
|
|
Circulation 16: 188-194, 1957.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13447162/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13447162</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13447162" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1161/01.cir.16.2.188" target="_blank">Full Text</a>]
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|
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</li>
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|
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<li>
|
|
<a id="14" class="mim-anchor"></a>
|
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<a id="McKusick1972" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McKusick, V. A.
|
|
<strong>Association of aortic valvular disease and cystic medial necrosis. (Letter)</strong>
|
|
Lancet 299: 1026-1027, 1972. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4112361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4112361</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4112361" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
|
|
|
[<a href="https://doi.org/10.1016/s0140-6736(72)91211-1" target="_blank">Full Text</a>]
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|
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</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
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<a id="McManus1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
McManus, B. M., Cassling, R. S., Soundy, T. J., Wilson, J. E., Sears, T. D., Rogler, W. C., Buehler, B. A., Wolford, J. F., Duggan, M. J., Byers, P. H., Fleming, W. H., Sanger, W. G.
|
|
<strong>Familial aortic dissection in absence of ascending aortic aneurysms: a lethal syndrome associated with precocious systemic hypertension.</strong>
|
|
Am. J. Cardiovasc. Pathol. 1: 55-67, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3455236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3455236</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3455236" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Opitz1973" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Opitz, J. M.
|
|
<strong>Personal Communication.</strong>
|
|
Madison, Wis. 8/31/1973.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
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<a id="Opitz1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Opitz, J. M.
|
|
<strong>Personal Communication.</strong>
|
|
Helena, Mont. 1982.
|
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|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Pachulski1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pachulski, R. T., Weinberg, A. L., Chan, K.-L.
|
|
<strong>Aortic aneurysm in patients with functionally normal or minimally stenotic bicuspid aortic valve.</strong>
|
|
Am. J. Cardiol. 67: 781-782, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2006634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2006634</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2006634" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1016/0002-9149(91)90544-u" target="_blank">Full Text</a>]
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|
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|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
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<a id="Pyeritz1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pyeritz, R. E.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 7/1990.
|
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|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
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<a id="Pyeritz2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pyeritz, R. E.
|
|
<strong>Heritable thoracic aortic disorders.</strong>
|
|
Curr. Opin. Cardiol. 29: 97-102, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24284977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24284977</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24284977" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/HCO.0000000000000023" target="_blank">Full Text</a>]
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|
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<a id="21" class="mim-anchor"></a>
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<a id="Toyama1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Toyama, M., Amano, A., Kameda, T.
|
|
<strong>Familial aortic dissection: a report of rare family cluster.</strong>
|
|
Brit. Heart J. 61: 204-207, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2923761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2923761</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2923761" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/hrt.61.2.204" target="_blank">Full Text</a>]
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<a id="22" class="mim-anchor"></a>
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<a id="Vaughan2001" class="mim-anchor"></a>
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Vaughan, C. J., Casey, M., He, J., Veuglers, M., Henderson, K., Guo, D., Campagna, R., Roman, M. J., Milewicz, D. M., Devereux, R. B., Basson, C. T.
|
|
<strong>Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder.</strong>
|
|
Circulation 103: 2469-2475, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11369687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11369687</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11369687" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1161/01.cir.103.20.2469" target="_blank">Full Text</a>]
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<a id="23" class="mim-anchor"></a>
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<a id="Von Meyenburg1939" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Von Meyenburg, H.
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<strong>Ueber spontane Aortenruptur bei zwei Bruedern.</strong>
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Schweiz. Med. Wschr. 20: 976-979, 1939.
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 02/15/2017
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 10/24/2016<br>Marla J. F. O'Neill - updated : 10/12/2016<br>Marla J. F. O'Neill - updated : 9/27/2013<br>Marla J. F. O'Neill - updated : 1/28/2010<br>Victor A. McKusick - updated : 12/20/2007<br>Kelly A. Przylepa - updated : 11/8/2007<br>Marla J. F. O'Neill - updated : 10/13/2006
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Victor A. McKusick : 7/1/2002
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carol : 05/27/2021
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carol : 02/15/2017<br>carol : 10/24/2016<br>carol : 10/20/2016<br>alopez : 10/13/2016<br>carol : 10/12/2016<br>alopez : 04/17/2014<br>carol : 4/3/2014<br>carol : 9/27/2013<br>terry : 9/14/2012<br>terry : 3/16/2011<br>wwang : 2/28/2011<br>carol : 6/16/2010<br>terry : 1/28/2010<br>alopez : 4/9/2009<br>terry : 4/3/2009<br>carol : 2/2/2009<br>alopez : 6/24/2008<br>terry : 12/20/2007<br>carol : 11/8/2007<br>wwang : 10/13/2006<br>alopez : 2/24/2006<br>alopez : 2/24/2006<br>alopez : 1/9/2006<br>carol : 10/13/2004<br>carol : 10/13/2004<br>carol : 3/18/2004<br>alopez : 7/3/2002<br>alopez : 7/3/2002<br>alopez : 7/3/2002
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<span class="mim-font">
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<strong>%</strong> 607086
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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AORTIC ANEURYSM, FAMILIAL THORACIC 1; AAT1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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FAA1<br />
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ANNULOAORTIC ECTASIA<br />
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AORTIC DISSECTION, FAMILIAL<br />
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AORTIC ANEURYSM, FAMILIAL THORACIC<br />
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ANEURYSM, THORACIC AORTIC
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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ERDHEIM CYSTIC MEDIAL NECROSIS OF AORTA, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 253646008, 433068007, 45894003;
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<strong>ORPHA:</strong> 229, 91387;
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<strong>DO:</strong> 14004;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 11q23.3-q24
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:114,600,001-130,900,000 </span>
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</em>
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</strong>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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11q23.3-q24
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</span>
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</td>
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<td>
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<span class="mim-font">
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Aortic aneurysm, familial thoracic 1
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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607086
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</span>
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</td>
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<td>
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
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2
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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|
<p>Aneurysms and dissections of the aorta usually result from degenerative changes in the aortic wall. Thoracic aortic aneurysms and dissections are primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. In contrast, degeneration leading to abdominal aortic aneurysm (100070) is usually caused by a combination of factors including age, atherosclerosis, hypertension, and infectious, inflammatory, or autoimmune processes.</p><p>Medial necrosis and thoracic aortic aneurysm/dissection are known to occur in certain connective tissue diseases such as Marfan syndrome (154700), and vascular (type IV) Ehlers-Danlos syndrome (130050). More commonly, however, medial necrosis occurs in the absence of a clearly identifiable syndrome.</p><p><strong><em>Genetic Heterogeneity of Thoracic Aortic Aneurysm</em></strong></p><p>
|
|
Loci for isolated thoracic aortic aneurysm have been identified on chromosomes 11q (AAT1) and 5q (AAT2; 607087). Mutation in the MYH11 gene (160745) on chromosome 16p causes AAT4 (132900). Mutation in the ACTA2 gene (102620) on chromosome 10q causes AAT6 (611788). Mutation in the MYLK gene (600922) on chromosome 3q21 causes AAT7 (613780). Mutation in the PRKG1 gene (176894) on chromosome 10q11 causes AAT8 (615436). Mutation in the MFAP5 gene (601103) on chromosome 12p13 causes AAT9 (616166). Mutation in the LOX gene (153455) on chromosome 5q23 causes AAT10 (617168). Mutation in the FOXE3 gene (601094) on chromosome 1p33 causes susceptibility to AAT11 (617349).</p><p>Thoracic aortic aneurysm with dissection (e.g., AAT3 and AAT5) can occur as a manifestation of the Loeys-Dietz syndrome (see LDS2, 610168 and LDS1, 609192, caused by mutation in the TGFBR2 (190182) and TGFBR1 (190181) genes, respectively).</p><p><strong><em>Reviews</em></strong></p><p>
|
|
Pyeritz (2014) reviewed heritable thoracic aortic disorders with particular attention to causative genes, including components of the extracellular matrix, vascular smooth muscle cytoskeleton, and TGF-beta and other signaling pathways. </p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Clinical Features</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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|
<p>McKusick (1972) noted the association between congenital bicuspid aortic valve and medial necrosis of the aorta in a father and son. Gale et al. (1977) observed 2 brothers with calcific stenosis of a congenital bicuspid aortic valve. One brother had a large aneurysm of the ascending aorta. The second had moderate dilatation. The association of aortic stenosis and cystic medial necrosis was documented by McKusick et al. (1957). Lindsay (1988) reviewed the evidence for an interrelationship between coarctation of the aorta, bicuspid aortic valve, and abnormal ascending aortic wall. The correlation between the first 2 had been pointed out by Abbott (1928). By echocardiographic study, Pachulski et al. (1991) demonstrated increased mean aortic root diameter in patients with functionally normal or minimally stenotic bicuspid aortic valves. </p><p>Bixler and Antley (1976) reported a possibly distinct entity combining Erdheim cystic medial necrosis (leading to dissection) and ectopia of the pigment layer of the iris onto the anterior surface of the iris. In 1 patient this created an appearance suggesting coloboma. This anomaly was referred to as iris flocculi by Lewis and Merin (1995), who likewise found association with familial aortic dissection; see AAT6, 611788. </p><p>Erdheim cystic medial necrosis with dissecting aneurysm was reported in brothers (Graham and Milne, 1952; von Meyenburg, 1939), in father and son (Fleming and Helwig, 1941), and in mother and daughter (Griffiths et al., 1951), but clinical information in these reports was too scanty to permit exclusion of the Marfan syndrome (154700). Hanley and Jones (1967) reported dissecting aortic aneurysm in 2 sisters and the son of one of them. No stigmata of Marfan syndrome were present. Humphries et al. (1972) reported dissecting aortic aneurysm in mother and daughter. Lichtenstein (1972) reported Erdheim cystic medial necrosis in father and son. Opitz (1973) studied a family with isolated medial necrosis in a young woman, her father, and her father's father, and later (Opitz, 1982) referred to 2 other well-documented families. </p><p>McManus et al. (1987) described a family in which 6 members spanning 3 generations died of acute dissection of the aorta; 5 were men who died at a mean age of 28 years (range 22 to 34), while the sixth was the proband's paternal grandmother, who died at 62 years of age. All were hypertensive. Dilatation of the aortic root or aneurysms in the aorta were absent. </p><p>Toyama et al. (1989) observed acute aortic dissection in 3 of 4 sibs without signs of Marfan syndrome. The mother died at age 55 of acute dissection, as did several of her sibs. </p><p>Pyeritz (1990) pointed out that in the familial aortic dissection cases the aortic root often does not have the bulbous appearance characteristic of the Marfan syndrome. Furthermore, aortic dissection may occur with degrees of dilatation in the first part of the ascending aorta that would not ordinarily be considered dangerous in the Marfan syndrome.</p><p>Vaughan et al. (2001) reported 3 families in which thoracic aortic aneurysms associated, in some individuals, with aneurysms elsewhere in the arterial tree and segregated as an autosomal dominant trait. Marfan syndrome (154700) and Ehlers-Danlos syndrome (130050) had been excluded on phenotypic grounds. In family ANA the proband had presented at the age of 36 with a 5.7-cm ascending thoracic aortic aneurysm and a type I aortic dissection. Aortic pathology revealed cystic medial necrosis. Echocardiographic screening detected 13 additional affected family members from 20 at risk, with ages ranging from 2.5 to 65. Sinuses of Valsalva were dilated in all but 1 affected person. One individual had an abdominal aortic aneurysm and another had an aneurysm of the left subclavian artery. In family ANB the proband had repair of a type I aortic dissection at the age of 34 and subsequently underwent repair of abdominal and aortic arch aneurysms. Seven of 14 at-risk family members had dilated aortas. In the third family (ANF), the proband again presented in his early thirties with a thoracic aortic aneurysm. Seven of 11 at-risk family members had aortic dilatation at the level of the sinuses of Valsalva. One affected individual had bilateral fifth digit contractures, retinal detachment, and cataracts, and a further individual had similar finger contractures and mild pectus excavatum. </p><p>Loscalzo et al. (2007) performed a prospective study of 13 families with biscuspid aortic valve (BAV; 607086) and thoracic aortic aneurysm. All 13 families had multiple affected members, often in more than 1 generation, consistent with an autosomal dominant pattern of inheritance. Thirty-five percent (39/110) of family members had BAV/AAT or TAA alone. Two families had nonmanifesting obligate carriers, and 3 families had additional left outflow tract anomalies including coarctation of the aorta in 2 families and hypoplastic left heart syndrome in 1 family, suggesting reduced penetrance and variable expressivity. Loscalzo et al. (2007) suggested that BAV and AAT are independent manifestations of a single gene defect. They sequenced the TGFBR1 (190181) and TGFBR2 (190182) genes in 1 proband in each family, but found no mutations in either gene. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Among the families reported by Vaughan et al. (2001) with autosomal dominant thoracic aortic aneurysms, linkage to FBN1 (134797), FBN2 (612570), COL3A1 (120180), and the locus on 5q13-q14 (AAT2; 607087) was initially excluded in family ANA. An initial genomewide linkage analysis using highly polymorphic STRs revealed linkage by 2-point lod score to chromosome 11q microsatellites, with a maximum lod score of 3.35 at theta = 0.06 at marker D11S1356. Further multipoint analyses revealed a maximum lod score of 4.4 at a locus 1.1 cM telomeric to D11S1356, and haplotype analyses refined the disease interval to a 2.3-cM locus at chromosome 11q23.3-q24 between D11S1341 and AFMB031WC9. Candidate genes mapping to this interval were screened for mutations, but none was identified. The authors assigned the symbol FAA1 to this locus. Family ANB was linked to FBN1, and linkage to both FBN1 and FAA1 was excluded in family ANF. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Associations Pending Confirmation</em></strong></p><p>
|
|
For discussion of a possible association between variation in the MAT2A gene and thoracic aortic aneurysm, see 601468.0001.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Abbott, M. E.
|
|
<strong>Coarctation of the aorta of the adult type.</strong>
|
|
Am. Heart J. 3: 381-421, 1928.
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bixler, D., Antley, R. M.
|
|
<strong>Familial aortic dissection with iris anomalies--a new connective tissue disease syndrome?</strong>
|
|
Birth Defects Orig. Art. Ser. XII(5): 229-234, 1976.
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fleming, J. W., Helwig, F. C.
|
|
<strong>Medionecrosis aortae idiopathica cystica with spontaneous rupture. Report of three cases with necropsies.</strong>
|
|
J. Mo. Med. Assoc. 38: 86-88, 1941.
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|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gale, A. N., McKusick, V. A., Hutchins, G. M., Gott, V. L.
|
|
<strong>Familial congenital bicuspid aortic valve: secondary calcific aortic stenosis and aortic aneurysm.</strong>
|
|
Chest 72: 668-670, 1977.
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|
|
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|
|
[PubMed: 913155]
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[Full Text: https://doi.org/10.1378/chest.72.5.668]
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</p>
|
|
</li>
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|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Graham, J. G., Milne, J. A.
|
|
<strong>Dissecting aneurysm of the aorta: a review of 29 cases.</strong>
|
|
Glasgow Med. J. 33: 320-330, 1952.
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|
[PubMed: 12980374]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Griffiths, G. J., Hayhurst, A. P., Whitehead, R.
|
|
<strong>Dissecting aneurysm of aorta in mother and child.</strong>
|
|
Brit. Heart J. 13: 364-368, 1951.
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|
|
[PubMed: 14848392]
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[Full Text: https://doi.org/10.1136/hrt.13.3.364]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Hanley, W. B., Jones, N. B.
|
|
<strong>Familial dissecting aortic aneurysm. A report of three cases within two generations.</strong>
|
|
Brit. Heart J. 29: 852-858, 1967.
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|
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|
|
[PubMed: 4228664]
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[Full Text: https://doi.org/10.1136/hrt.29.6.852]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Humphries, J. O., Ingle, J. N., Norum, R. A.
|
|
<strong>Dissecting aneurysm of the aorta in mother and daughter.</strong>
|
|
Birth Defects Orig. Art. Ser. VIII(5): 185-187, 1972.
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lewis, R. A., Merin, L. M.
|
|
<strong>Iris flocculi and familial aortic dissection.</strong>
|
|
Arch. Ophthal. 113: 1330-1331, 1995.
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|
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|
|
[PubMed: 7575269]
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[Full Text: https://doi.org/10.1001/archopht.1995.01100100118041]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Lichtenstein, J.
|
|
<strong>Erdheim's cystic medial necrosis in father and son.</strong>
|
|
Birth Defects Orig. Art. Ser. VIII(5): 282-283, 1972.
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|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lindsay, J., Jr.
|
|
<strong>Coarctation of the aorta, bicuspid aortic valve and abnormal ascending aortic wall.</strong>
|
|
Am. J. Cardiol. 61: 182-184, 1988.
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|
[PubMed: 3276120]
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[Full Text: https://doi.org/10.1016/0002-9149(88)91327-6]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Loscalzo, M. L., Goh, D. L. M., Loeys, B., Kent, K. C., Spevak, P. J., Dietz, H. C.
|
|
<strong>Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance.</strong>
|
|
Am. J. Med. Genet. 143A: 1960-1967, 2007.
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|
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|
[PubMed: 17676603]
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[Full Text: https://doi.org/10.1002/ajmg.a.31872]
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
McKusick, V. A., Logue, R. B., Bahnson, H. T.
|
|
<strong>Association of aortic valvular disease and cystic medial necrosis of the ascending aorta: report of four instances.</strong>
|
|
Circulation 16: 188-194, 1957.
|
|
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|
|
[PubMed: 13447162]
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[Full Text: https://doi.org/10.1161/01.cir.16.2.188]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McKusick, V. A.
|
|
<strong>Association of aortic valvular disease and cystic medial necrosis. (Letter)</strong>
|
|
Lancet 299: 1026-1027, 1972. Note: Originally Volume I.
|
|
|
|
|
|
[PubMed: 4112361]
|
|
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|
[Full Text: https://doi.org/10.1016/s0140-6736(72)91211-1]
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</p>
|
|
</li>
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<li>
|
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<p class="mim-text-font">
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McManus, B. M., Cassling, R. S., Soundy, T. J., Wilson, J. E., Sears, T. D., Rogler, W. C., Buehler, B. A., Wolford, J. F., Duggan, M. J., Byers, P. H., Fleming, W. H., Sanger, W. G.
|
|
<strong>Familial aortic dissection in absence of ascending aortic aneurysms: a lethal syndrome associated with precocious systemic hypertension.</strong>
|
|
Am. J. Cardiovasc. Pathol. 1: 55-67, 1987.
|
|
|
|
|
|
[PubMed: 3455236]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Opitz, J. M.
|
|
<strong>Personal Communication.</strong>
|
|
Madison, Wis. 8/31/1973.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Opitz, J. M.
|
|
<strong>Personal Communication.</strong>
|
|
Helena, Mont. 1982.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pachulski, R. T., Weinberg, A. L., Chan, K.-L.
|
|
<strong>Aortic aneurysm in patients with functionally normal or minimally stenotic bicuspid aortic valve.</strong>
|
|
Am. J. Cardiol. 67: 781-782, 1991.
|
|
|
|
|
|
[PubMed: 2006634]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0002-9149(91)90544-u]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pyeritz, R. E.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 7/1990.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pyeritz, R. E.
|
|
<strong>Heritable thoracic aortic disorders.</strong>
|
|
Curr. Opin. Cardiol. 29: 97-102, 2014.
|
|
|
|
|
|
[PubMed: 24284977]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/HCO.0000000000000023]
|
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</p>
|
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</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
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Toyama, M., Amano, A., Kameda, T.
|
|
<strong>Familial aortic dissection: a report of rare family cluster.</strong>
|
|
Brit. Heart J. 61: 204-207, 1989.
|
|
|
|
|
|
[PubMed: 2923761]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/hrt.61.2.204]
|
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</p>
|
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</li>
|
|
|
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<li>
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<p class="mim-text-font">
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Vaughan, C. J., Casey, M., He, J., Veuglers, M., Henderson, K., Guo, D., Campagna, R., Roman, M. J., Milewicz, D. M., Devereux, R. B., Basson, C. T.
|
|
<strong>Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder.</strong>
|
|
Circulation 103: 2469-2475, 2001.
|
|
|
|
|
|
[PubMed: 11369687]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1161/01.cir.103.20.2469]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Von Meyenburg, H.
|
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<strong>Ueber spontane Aortenruptur bei zwei Bruedern.</strong>
|
|
Schweiz. Med. Wschr. 20: 976-979, 1939.
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</p>
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</li>
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Marla J. F. O'Neill - updated : 02/15/2017<br>Marla J. F. O'Neill - updated : 10/24/2016<br>Marla J. F. O'Neill - updated : 10/12/2016<br>Marla J. F. O'Neill - updated : 9/27/2013<br>Marla J. F. O'Neill - updated : 1/28/2010<br>Victor A. McKusick - updated : 12/20/2007<br>Kelly A. Przylepa - updated : 11/8/2007<br>Marla J. F. O'Neill - updated : 10/13/2006
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Victor A. McKusick : 7/1/2002
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