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<!--
|
||
UID=863805
|
||
ConceptID=C4015368
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Aortic aneurysm, familial thoracic 9<span class="h1sub">(AAT9)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863805</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4015368</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>AAT9</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="MFAP5 - ID: 8076 - NCBI Gene" href="/gene/8076" class="medgenPMinfo">MFAP5</a> (12p13.31)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014514" target="_blank">MONDO:0014514</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/616166" target="_blank">616166</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_2047"><div><strong>Arachnodactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0003706</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally long and slender fingers (spider fingers).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2047">Feature record</a> | <a href="/medgen?term=%22Arachnodactyly%22%5BClinical%20Features%5D%20OR%202047%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_445"><div><strong>Atrial fibrillation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>445</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0004238</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/445">Feature record</a> | <a href="/medgen?term=%22Atrial%20fibrillation%22%5BClinical%20Features%5D%20OR%20445%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7671"><div><strong>Mitral valve prolapse</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7671</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7671">Feature record</a> | <a href="/medgen?term=%22Mitral%20valve%20prolapse%22%5BClinical%20Features%5D%20OR%207671%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56525"><div><strong>Thoracic aortic aneurysm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56525</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0162872</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal localized widening (dilatation) of the thoracic aorta.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56525">Feature record</a> | <a href="/medgen?term=%22Thoracic%20aortic%20aneurysm%22%5BClinical%20Features%5D%20OR%2056525%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322966"><div><strong>Ascending aortic dissection</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322966</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836653</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322966">Feature record</a> | <a href="/medgen?term=%22Ascending%20aortic%20dissection%22%5BClinical%20Features%5D%20OR%20322966%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870555"><div><strong>Aortic tortuosity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870555</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4025003</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal tortuous (i.e., twisted) form of the aorta.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870555">Feature record</a> | <a href="/medgen?term=%22Aortic%20tortuosity%22%5BClinical%20Features%5D%20OR%20870555%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_323048"><div><strong>Disproportionate tall stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323048</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836996</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323048">Feature record</a> | <a href="/medgen?term=%22Disproportionate%20tall%20stature%22%5BClinical%20Features%5D%20OR%20323048%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_377094"><div><strong>Dural ectasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377094</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1851712</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/377094">Feature record</a> | <a href="/medgen?term=%22Dural%20ectasia%22%5BClinical%20Features%5D%20OR%20377094%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57643"><div><strong>Pectus carinatum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57643</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0158731</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57643">Feature record</a> | <a href="/medgen?term=%22Pectus%20carinatum%22%5BClinical%20Features%5D%20OR%2057643%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_781174"><div><strong>Pectus excavatum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>781174</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2051831</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/781174">Feature record</a> | <a href="/medgen?term=%22Pectus%20excavatum%22%5BClinical%20Features%5D%20OR%20781174%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66814"><div><strong>High palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66814</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0240635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66814">Feature record</a> | <a href="/medgen?term=%22High%20palate%22%5BClinical%20Features%5D%20OR%2066814%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66814" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High palate</a></span></li></ul></li><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arachnodactyly</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870555" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aortic tortuosity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322966" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ascending aortic dissection</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_445" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial fibrillation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7671" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitral valve prolapse</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56525" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thoracic aortic aneurysm</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57643" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pectus carinatum</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_781174" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pectus excavatum</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_377094" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dural ectasia</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_323048" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Disproportionate tall stature</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4707243[DISCUI]&test_type=Clinical" ref="ncbi_uid=1644766">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1120/" ref="ncbi_uid=1644766">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1644766" ref="ncbi_uid=1644766">V</a></span></span><span class="TLline"><a href="/medgen/1644766" ref="tree=GTR&ncbi_uid=1644766&link_uid=1644766" title="View MedGen record for 'Familial thoracic aortic aneurysm and aortic dissection'">Familial thoracic aortic aneurysm and aortic dissection</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335538" target="_blank" href="/omim/607087">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1120/" ref="ncbi_uid=335538">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=335538" ref="ncbi_uid=335538">V</a></span></span><span class="TLline"><a href="/medgen/335538" ref="tree=GTR&ncbi_uid=335538&link_uid=335538" title="View MedGen record for 'Aortic aneurysm, familial thoracic 2'">Aortic aneurysm, familial thoracic 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1851504[DISCUI]&test_type=Clinical" ref="ncbi_uid=338704">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=338704" target="_blank" href="/omim/132900">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1120/" ref="ncbi_uid=338704">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=338704" ref="ncbi_uid=338704">V</a></span></span><span class="TLline"><a href="/medgen/338704" ref="tree=GTR&ncbi_uid=338704&link_uid=338704" title="View MedGen record for 'Aortic aneurysm, familial thoracic 4'">Aortic aneurysm, familial thoracic 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2673186[DISCUI]&test_type=Clinical" ref="ncbi_uid=435866">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=435866" target="_blank" href="/omim/102620">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1120/" ref="ncbi_uid=435866">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=435866" ref="ncbi_uid=435866">V</a></span></span><span class="TLline"><a href="/medgen/435866" ref="tree=GTR&ncbi_uid=435866&link_uid=435866" title="View MedGen record for 'Aortic aneurysm, familial thoracic 6'">Aortic aneurysm, familial thoracic 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151077[DISCUI]&test_type=Clinical" ref="ncbi_uid=462427">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462427" target="_blank" href="/omim/600922">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1120/" ref="ncbi_uid=462427">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462427" ref="ncbi_uid=462427">V</a></span></span><span class="TLline"><a href="/medgen/462427" ref="tree=GTR&ncbi_uid=462427&link_uid=462427" title="View MedGen record for 'Aortic aneurysm, familial thoracic 7'">Aortic aneurysm, familial thoracic 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3809513[DISCUI]&test_type=Clinical" ref="ncbi_uid=815843">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=815843" target="_blank" href="/omim/176894">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=815843" ref="ncbi_uid=815843">V</a></span></span><span class="TLline"><a href="/medgen/815843" ref="tree=GTR&ncbi_uid=815843&link_uid=815843" title="View MedGen record for 'Aortic aneurysm, familial thoracic 8'">Aortic aneurysm, familial thoracic 8</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4015368[DISCUI]&test_type=Clinical" ref="ncbi_uid=863805">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=863805" target="_blank" href="/omim/601103">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=863805" ref="ncbi_uid=863805">V</a></span></span><span class="TLline">Aortic aneurysm, familial thoracic 9</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4284414[DISCUI]&test_type=Clinical" ref="ncbi_uid=924785">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=924785" target="_blank" href="/omim/153455">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1120/" ref="ncbi_uid=924785">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=924785" ref="ncbi_uid=924785">V</a></span></span><span class="TLline"><a href="/medgen/924785" ref="tree=GTR&ncbi_uid=924785&link_uid=924785" title="View MedGen record for 'Aortic aneurysm, familial thoracic 10'">Aortic aneurysm, familial thoracic 10</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0345050[DISCUI]&test_type=Clinical" ref="ncbi_uid=91038">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=91038" target="_blank" href="/omim/607086">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1120/" ref="ncbi_uid=91038">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=91038" ref="ncbi_uid=91038">V</a></span></span><span class="TLline"><a href="/medgen/91038" ref="tree=GTR&ncbi_uid=91038&link_uid=91038" title="View MedGen record for 'Congenital aneurysm of ascending aorta'">Congenital aneurysm of ascending aorta</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842966" ref="tree=MeSH" title="MedGen record for Marfan and Marfan-related disorder">Marfan and Marfan-related disorder</a></span><ul><li><span class="TLline"><a href="/medgen/1644766" ref="tree=MeSH" title="MedGen record for Familial thoracic aortic aneurysm and aortic dissection">Familial thoracic aortic aneurysm and aortic dissection</a></span><ul><li><span class="matched_ds">Aortic aneurysm, familial thoracic 9</span></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36189931">Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamaguchi T,
|
||
Hayashi S,
|
||
Hayashi D,
|
||
Matsuyama T,
|
||
Koitabashi N,
|
||
Ogiwara K,
|
||
Noda M,
|
||
Nakada C,
|
||
Fujiki S,
|
||
Furutachi A,
|
||
Tanabe Y,
|
||
Yamanaka M,
|
||
Ishikawa A,
|
||
Mizukami M,
|
||
Mizuguchi A,
|
||
Sugiura K,
|
||
Sumi M,
|
||
Yamazawa H,
|
||
Izawa A,
|
||
Wada Y,
|
||
Fujikawa T,
|
||
Takiguchi Y,
|
||
Wakui K,
|
||
Takano K,
|
||
Nishio SY,
|
||
Kosho T</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2023 Jan;191(1):37-51.
|
||
Epub 2022 Oct 3
|
||
doi: 10.1002/ajmg.a.62982.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36189931" target="_blank">36189931</a><a href="/pmc/articles/PMC10092364" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34498425">Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li J,
|
||
Yang L,
|
||
Diao Y,
|
||
Zhou L,
|
||
Xin Y,
|
||
Jiang L,
|
||
Li R,
|
||
Wang J,
|
||
Duan W,
|
||
Liu J</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2021 Oct;9(10):e1800.
|
||
Epub 2021 Sep 8
|
||
doi: 10.1002/mgg3.1800.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34498425" target="_blank">34498425</a><a href="/pmc/articles/PMC8580079" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29510914">Testing patterns for genetically triggered aortic and arterial aneurysms and dissections at an academic center.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hicks KL,
|
||
Byers PH,
|
||
Quiroga E,
|
||
Pepin MG,
|
||
Shalhub S</span><br />
|
||
<span class="medgenPMjournal">J Vasc Surg</span>
|
||
2018 Sep;68(3):701-711.
|
||
Epub 2018 Mar 3
|
||
doi: 10.1016/j.jvs.2017.12.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29510914" target="_blank">29510914</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(aortic%20aneurysm%2C%20familial%20thoracic%209)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (7)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38383041">Exposure-response associations between chronic exposure to fine particulate matter and risks of hospital admission for major cardiovascular diseases: population based cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wei Y,
|
||
Feng Y,
|
||
Danesh Yazdi M,
|
||
Yin K,
|
||
Castro E,
|
||
Shtein A,
|
||
Qiu X,
|
||
Peralta AA,
|
||
Coull BA,
|
||
Dominici F,
|
||
Schwartz JD</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2024 Feb 21;384:e076939.
|
||
doi: 10.1136/bmj-2023-076939.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38383041" target="_blank">38383041</a><a href="/pmc/articles/PMC10879983" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36007983">Comparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Regalado ES,
|
||
Morris SA,
|
||
Braverman AC,
|
||
Hostetler EM,
|
||
De Backer J,
|
||
Li R,
|
||
Pyeritz RE,
|
||
Yetman AT,
|
||
Cervi E,
|
||
Shalhub S,
|
||
Jeremy R,
|
||
LeMaire S,
|
||
Ouzounian M,
|
||
Evangelista A,
|
||
Boileau C,
|
||
Jondeau G,
|
||
Milewicz DM</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2022 Aug 30;80(9):857-869.
|
||
doi: 10.1016/j.jacc.2022.05.054.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36007983" target="_blank">36007983</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34572082">Inflammasomes in the Pathophysiology of Aortic Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wortmann M,
|
||
Peters AS,
|
||
Erhart P,
|
||
Körfer D,
|
||
Böckler D,
|
||
Dihlmann S</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2021 Sep 15;10(9)
|
||
doi: 10.3390/cells10092433.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34572082" target="_blank">34572082</a><a href="/pmc/articles/PMC8468335" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29204794">Thoracic aortic aneurysm: unlocking the "silent killer" secrets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saeyeldin AA,
|
||
Velasquez CA,
|
||
Mahmood SUB,
|
||
Brownstein AJ,
|
||
Zafar MA,
|
||
Ziganshin BA,
|
||
Elefteriades JA</span><br />
|
||
<span class="medgenPMjournal">Gen Thorac Cardiovasc Surg</span>
|
||
2019 Jan;67(1):1-11.
|
||
Epub 2017 Dec 4
|
||
doi: 10.1007/s11748-017-0874-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29204794" target="_blank">29204794</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29543232">Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weerakkody R,
|
||
Ross D,
|
||
Parry DA,
|
||
Ziganshin B,
|
||
Vandrovcova J,
|
||
Gampawar P,
|
||
Abdullah A,
|
||
Biggs J,
|
||
Dumfarth J,
|
||
Ibrahim Y;
|
||
Yale Aortic Institute Data and Repository Team,
|
||
Bicknell C,
|
||
Field M,
|
||
Elefteriades J,
|
||
Cheshire N,
|
||
Aitman TJ</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2018 Nov;20(11):1414-1422.
|
||
Epub 2018 Mar 15
|
||
doi: 10.1038/gim.2018.27.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29543232" target="_blank">29543232</a><a href="/pmc/articles/PMC6004315" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aortic%20aneurysm%2C%20familial%20thoracic%209%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (90)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39424426">Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Asokan KL,
|
||
Landes JR,
|
||
Renders W,
|
||
Muiño Mosquera L,
|
||
De Backer J,
|
||
Jantzen DW,
|
||
Yetman AT,
|
||
Teixido-Tura G,
|
||
Evangelista A,
|
||
Jeremy R,
|
||
Jones EG,
|
||
Morris S,
|
||
Doan T,
|
||
Ouzonian M,
|
||
Braverman A,
|
||
Jondeau G,
|
||
Milleron O,
|
||
Milewicz DM,
|
||
Prakash SK;
|
||
Montalcino Aortic Consortium *</span><br />
|
||
<span class="medgenPMjournal">J Am Heart Assoc</span>
|
||
2024 Nov 5;13(21):e036274.
|
||
Epub 2024 Oct 18
|
||
doi: 10.1161/JAHA.124.036274.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39424426" target="_blank">39424426</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37839934">Metabolic syndrome and the risk of abdominal aortic aneurysm: A nationwide cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cho IY,
|
||
Koo HY,
|
||
Han K,
|
||
Lee KN,
|
||
Cho M,
|
||
Jin SM,
|
||
Cho YH,
|
||
Lee JH,
|
||
Park YJ,
|
||
Shin DW</span><br />
|
||
<span class="medgenPMjournal">Atherosclerosis</span>
|
||
2023 Dec;386:117329.
|
||
Epub 2023 Oct 9
|
||
doi: 10.1016/j.atherosclerosis.2023.117329.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37839934" target="_blank">37839934</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34572082">Inflammasomes in the Pathophysiology of Aortic Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wortmann M,
|
||
Peters AS,
|
||
Erhart P,
|
||
Körfer D,
|
||
Böckler D,
|
||
Dihlmann S</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2021 Sep 15;10(9)
|
||
doi: 10.3390/cells10092433.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34572082" target="_blank">34572082</a><a href="/pmc/articles/PMC8468335" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29204794">Thoracic aortic aneurysm: unlocking the "silent killer" secrets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saeyeldin AA,
|
||
Velasquez CA,
|
||
Mahmood SUB,
|
||
Brownstein AJ,
|
||
Zafar MA,
|
||
Ziganshin BA,
|
||
Elefteriades JA</span><br />
|
||
<span class="medgenPMjournal">Gen Thorac Cardiovasc Surg</span>
|
||
2019 Jan;67(1):1-11.
|
||
Epub 2017 Dec 4
|
||
doi: 10.1007/s11748-017-0874-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29204794" target="_blank">29204794</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29543232">Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weerakkody R,
|
||
Ross D,
|
||
Parry DA,
|
||
Ziganshin B,
|
||
Vandrovcova J,
|
||
Gampawar P,
|
||
Abdullah A,
|
||
Biggs J,
|
||
Dumfarth J,
|
||
Ibrahim Y;
|
||
Yale Aortic Institute Data and Repository Team,
|
||
Bicknell C,
|
||
Field M,
|
||
Elefteriades J,
|
||
Cheshire N,
|
||
Aitman TJ</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2018 Nov;20(11):1414-1422.
|
||
Epub 2018 Mar 15
|
||
doi: 10.1038/gim.2018.27.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29543232" target="_blank">29543232</a><a href="/pmc/articles/PMC6004315" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aortic%20aneurysm%2C%20familial%20thoracic%209%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (65)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38383041">Exposure-response associations between chronic exposure to fine particulate matter and risks of hospital admission for major cardiovascular diseases: population based cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wei Y,
|
||
Feng Y,
|
||
Danesh Yazdi M,
|
||
Yin K,
|
||
Castro E,
|
||
Shtein A,
|
||
Qiu X,
|
||
Peralta AA,
|
||
Coull BA,
|
||
Dominici F,
|
||
Schwartz JD</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2024 Feb 21;384:e076939.
|
||
doi: 10.1136/bmj-2023-076939.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38383041" target="_blank">38383041</a><a href="/pmc/articles/PMC10879983" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37644562">Analysis of the genetic contribution to thoracic aortic aneurysm or dissection in a prospective cohort of patients with familial and sporadic cases in East China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duan Y,
|
||
Xiong J,
|
||
Lai Z,
|
||
Zhong Y,
|
||
Tian C,
|
||
Du Z,
|
||
Luo Z,
|
||
Yu J,
|
||
Li W,
|
||
Xu W,
|
||
Wang Y,
|
||
Ding T,
|
||
Zhong X,
|
||
Pan M,
|
||
Qiu Y,
|
||
Lan X,
|
||
Chen T,
|
||
Li P,
|
||
Liu K,
|
||
Gao M,
|
||
Hu Y,
|
||
Liu Z</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 Aug 29;18(1):251.
|
||
doi: 10.1186/s13023-023-02855-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37644562" target="_blank">37644562</a><a href="/pmc/articles/PMC10466872" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37290733">Incidence and risk factors for interval aortic events during staged fenestrated-branched endovascular aortic repair.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cirillo-Penn NC,
|
||
Mendes BC,
|
||
Tenorio ER,
|
||
Cajas-Monson LC,
|
||
D'Oria M,
|
||
Oderich GS,
|
||
DeMartino RR</span><br />
|
||
<span class="medgenPMjournal">J Vasc Surg</span>
|
||
2023 Oct;78(4):874-882.
|
||
Epub 2023 Jun 7
|
||
doi: 10.1016/j.jvs.2023.05.049.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37290733" target="_blank">37290733</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32819152">Clinical outcome of acute thoracic aortic syndrome in nonagenarians.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arakawa M,
|
||
Okamura H,
|
||
Miyagawa A,
|
||
Kitada Y,
|
||
Adachi H</span><br />
|
||
<span class="medgenPMjournal">Asian Cardiovasc Thorac Ann</span>
|
||
2020 Nov;28(9):577-582.
|
||
Epub 2020 Aug 20
|
||
doi: 10.1177/0218492320952654.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32819152" target="_blank">32819152</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29567025">Endovascular thoracic aortic repair in confirmed or suspected genetically triggered thoracic aortic dissection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shalhub S,
|
||
Eagle KA,
|
||
Asch FM,
|
||
LeMaire SA,
|
||
Milewicz DM;
|
||
GenTAC Investigators for the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) Consortium</span><br />
|
||
<span class="medgenPMjournal">J Vasc Surg</span>
|
||
2018 Aug;68(2):364-371.
|
||
Epub 2018 Mar 19
|
||
doi: 10.1016/j.jvs.2017.11.095.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29567025" target="_blank">29567025</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aortic%20aneurysm%2C%20familial%20thoracic%209%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (18)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39226896">Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mansoorshahi S,
|
||
Yetman AT,
|
||
Bissell MM,
|
||
Kim YY,
|
||
Michelena HI,
|
||
De Backer J,
|
||
Mosquera LM,
|
||
Hui DS,
|
||
Caffarelli A,
|
||
Andreassi MG,
|
||
Foffa I,
|
||
Guo D,
|
||
Citro R,
|
||
De Marco M,
|
||
Tretter JT,
|
||
Morris SA,
|
||
Body SC,
|
||
Chong JX,
|
||
Bamshad MJ;
|
||
University of Washington Center for Rare Disease Research;
|
||
BAVCon Investigators;
|
||
EBAV Investigators,
|
||
Milewicz DM,
|
||
Prakash SK</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2024 Oct 3;111(10):2219-2231.
|
||
Epub 2024 Sep 2
|
||
doi: 10.1016/j.ajhg.2024.08.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39226896" target="_blank">39226896</a><a href="/pmc/articles/PMC11480851" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38383041">Exposure-response associations between chronic exposure to fine particulate matter and risks of hospital admission for major cardiovascular diseases: population based cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wei Y,
|
||
Feng Y,
|
||
Danesh Yazdi M,
|
||
Yin K,
|
||
Castro E,
|
||
Shtein A,
|
||
Qiu X,
|
||
Peralta AA,
|
||
Coull BA,
|
||
Dominici F,
|
||
Schwartz JD</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2024 Feb 21;384:e076939.
|
||
doi: 10.1136/bmj-2023-076939.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38383041" target="_blank">38383041</a><a href="/pmc/articles/PMC10879983" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33249204">Characterization of syndromic, nonsyndromic familial, and sporadic type B aortic dissection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shalhub S,
|
||
Rah JY,
|
||
Campbell R,
|
||
Sweet MP,
|
||
Quiroga E,
|
||
Starnes BW</span><br />
|
||
<span class="medgenPMjournal">J Vasc Surg</span>
|
||
2021 Jun;73(6):1906-1914.e2.
|
||
Epub 2020 Nov 27
|
||
doi: 10.1016/j.jvs.2020.10.080.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33249204" target="_blank">33249204</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29204794">Thoracic aortic aneurysm: unlocking the "silent killer" secrets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saeyeldin AA,
|
||
Velasquez CA,
|
||
Mahmood SUB,
|
||
Brownstein AJ,
|
||
Zafar MA,
|
||
Ziganshin BA,
|
||
Elefteriades JA</span><br />
|
||
<span class="medgenPMjournal">Gen Thorac Cardiovasc Surg</span>
|
||
2019 Jan;67(1):1-11.
|
||
Epub 2017 Dec 4
|
||
doi: 10.1007/s11748-017-0874-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29204794" target="_blank">29204794</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29543232">Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weerakkody R,
|
||
Ross D,
|
||
Parry DA,
|
||
Ziganshin B,
|
||
Vandrovcova J,
|
||
Gampawar P,
|
||
Abdullah A,
|
||
Biggs J,
|
||
Dumfarth J,
|
||
Ibrahim Y;
|
||
Yale Aortic Institute Data and Repository Team,
|
||
Bicknell C,
|
||
Field M,
|
||
Elefteriades J,
|
||
Cheshire N,
|
||
Aitman TJ</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2018 Nov;20(11):1414-1422.
|
||
Epub 2018 Mar 15
|
||
doi: 10.1038/gim.2018.27.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29543232" target="_blank">29543232</a><a href="/pmc/articles/PMC6004315" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aortic%20aneurysm%2C%20familial%20thoracic%209%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (50)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39424426">Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Asokan KL,
|
||
Landes JR,
|
||
Renders W,
|
||
Muiño Mosquera L,
|
||
De Backer J,
|
||
Jantzen DW,
|
||
Yetman AT,
|
||
Teixido-Tura G,
|
||
Evangelista A,
|
||
Jeremy R,
|
||
Jones EG,
|
||
Morris S,
|
||
Doan T,
|
||
Ouzonian M,
|
||
Braverman A,
|
||
Jondeau G,
|
||
Milleron O,
|
||
Milewicz DM,
|
||
Prakash SK;
|
||
Montalcino Aortic Consortium *</span><br />
|
||
<span class="medgenPMjournal">J Am Heart Assoc</span>
|
||
2024 Nov 5;13(21):e036274.
|
||
Epub 2024 Oct 18
|
||
doi: 10.1161/JAHA.124.036274.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39424426" target="_blank">39424426</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39226896">Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mansoorshahi S,
|
||
Yetman AT,
|
||
Bissell MM,
|
||
Kim YY,
|
||
Michelena HI,
|
||
De Backer J,
|
||
Mosquera LM,
|
||
Hui DS,
|
||
Caffarelli A,
|
||
Andreassi MG,
|
||
Foffa I,
|
||
Guo D,
|
||
Citro R,
|
||
De Marco M,
|
||
Tretter JT,
|
||
Morris SA,
|
||
Body SC,
|
||
Chong JX,
|
||
Bamshad MJ;
|
||
University of Washington Center for Rare Disease Research;
|
||
BAVCon Investigators;
|
||
EBAV Investigators,
|
||
Milewicz DM,
|
||
Prakash SK</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2024 Oct 3;111(10):2219-2231.
|
||
Epub 2024 Sep 2
|
||
doi: 10.1016/j.ajhg.2024.08.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39226896" target="_blank">39226896</a><a href="/pmc/articles/PMC11480851" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38383041">Exposure-response associations between chronic exposure to fine particulate matter and risks of hospital admission for major cardiovascular diseases: population based cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wei Y,
|
||
Feng Y,
|
||
Danesh Yazdi M,
|
||
Yin K,
|
||
Castro E,
|
||
Shtein A,
|
||
Qiu X,
|
||
Peralta AA,
|
||
Coull BA,
|
||
Dominici F,
|
||
Schwartz JD</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2024 Feb 21;384:e076939.
|
||
doi: 10.1136/bmj-2023-076939.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38383041" target="_blank">38383041</a><a href="/pmc/articles/PMC10879983" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34498425">Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li J,
|
||
Yang L,
|
||
Diao Y,
|
||
Zhou L,
|
||
Xin Y,
|
||
Jiang L,
|
||
Li R,
|
||
Wang J,
|
||
Duan W,
|
||
Liu J</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2021 Oct;9(10):e1800.
|
||
Epub 2021 Sep 8
|
||
doi: 10.1002/mgg3.1800.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34498425" target="_blank">34498425</a><a href="/pmc/articles/PMC8580079" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29204794">Thoracic aortic aneurysm: unlocking the "silent killer" secrets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saeyeldin AA,
|
||
Velasquez CA,
|
||
Mahmood SUB,
|
||
Brownstein AJ,
|
||
Zafar MA,
|
||
Ziganshin BA,
|
||
Elefteriades JA</span><br />
|
||
<span class="medgenPMjournal">Gen Thorac Cardiovasc Surg</span>
|
||
2019 Jan;67(1):1-11.
|
||
Epub 2017 Dec 4
|
||
doi: 10.1007/s11748-017-0874-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29204794" target="_blank">29204794</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aortic%20aneurysm%2C%20familial%20thoracic%209%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (35)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4015368%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (17)</a></li>
|
||
<li><a href="/gtr/tests?term=C4015368%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (25)</a></li>
|
||
<li><a href="/gtr/tests?term=C4015368%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (8)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4015368%5bDISCUI%5d" target="_blank">See all (26)</a></total></li>
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</ul></div>
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=616166" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Aortic%20aneurysm,%20familial%20thoracic%209" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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</div>
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(aortic%20aneurysm%2C%20familial%20thoracic%209)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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|
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=601103" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=8076[geneid]" target="_blank">View MFAP5 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=616166" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/aortic_aneurysm_familial_thoracic_9" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Aortic%20aneurysm,%20familial%20thoracic%209" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16067/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
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<h3>Reviews</h3>
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</div>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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<div class="portlet_content">
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<ul>
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<li>
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||
<a href="/pubmed/clinical?term=Aortic%20aneurysm,%20familial%20thoracic%209" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Aortic%20aneurysm,%20familial%20thoracic%209%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
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</div>
|
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|
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<!-- MedGen supplemental column ends here -->
|
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<div class="portlet brieflink">
|
||
<div class="portlet_head">
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<div class="portlet_title">
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<h3>Related information</h3>
|
||
</div>
|
||
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||
</div>
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<div class="portlet_content DiscoveryDbLinks">
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||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=863805" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=863805" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4015368[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
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