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<meta name="keywords" content="C3809513, aat8, aortic aneurysm, familial thoracic 8, aortic aneurysm, familial thoracic type 8, disease or syndrome, familial thoracic aortic aneurysm and aortic dissection caused by mutation in prkg1, prkg1, prkg1 familial thoracic aortic aneurysm and aortic dissection, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=815843
|
||
ConceptID=C3809513
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Aortic aneurysm, familial thoracic 8<span class="h1sub">(AAT8)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815843</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."><span class="highlight" style="background-color:">C3809513</span></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>AAT8</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="PRKG1 - ID: 5592 - NCBI Gene" href="/gene/5592" class="medgenPMinfo">PRKG1</a> (10q11.23-21.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014187" target="_blank">MONDO:0014187</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615436" target="_blank">615436</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">
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||
<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 PRKG1 gene. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<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_3622"><div><strong>Coronary aneurysm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3622</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.">C0010051</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3622">Feature record</a> | <a href="/medgen?term=%22Coronary%20aneurysm%22%5BClinical%20Features%5D%20OR%203622%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_56524"><div><strong>Abdominal aortic aneurysm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56524</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.">C0162871</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 abdominal aorta.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56524">Feature record</a> | <a href="/medgen?term=%22Abdominal%20aortic%20aneurysm%22%5BClinical%20Features%5D%20OR%2056524%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_881843"><div><strong>Coronary artery dissection</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>881843</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.">C0340648</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/881843">Feature record</a> | <a href="/medgen?term=%22Coronary%20artery%20dissection%22%5BClinical%20Features%5D%20OR%20881843%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_868484"><div><strong>Descending aortic dissection</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868484</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.">C4022878</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 descending 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/868484">Feature record</a> | <a href="/medgen?term=%22Descending%20aortic%20dissection%22%5BClinical%20Features%5D%20OR%20868484%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><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_56524" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abdominal aortic aneurysm</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_3622" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coronary aneurysm</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_881843" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coronary artery dissection</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868484" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Descending aortic dissection</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="matched_ds"><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">Aortic aneurysm, familial thoracic 8</span></li><li class="TLclosed"><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"><a href="/medgen/863805" ref="tree=GTR&ncbi_uid=863805&link_uid=863805" title="View MedGen record for 'Aortic aneurysm, familial thoracic 9'">Aortic aneurysm, familial thoracic 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=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 8</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/35383462">Preventing Acute Aortic Dissections: The Power of Familial Screening and Risk Assessment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cecchi AC,
|
||
Boerio ML,
|
||
Marin I,
|
||
Pinard A,
|
||
Milewicz DM</span><br />
|
||
<span class="medgenPMjournal">J Am Heart Assoc</span>
|
||
2022 Apr 19;11(8):e025441.
|
||
Epub 2022 Apr 6
|
||
doi: 10.1161/JAHA.122.025441.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35383462" target="_blank">35383462</a><a href="/pmc/articles/PMC9238455" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33334864">Cardiogenetics: genetic testing in the diagnosis and management of patients with aortic disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thakker PD,
|
||
Braverman AC</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2021 Apr;107(8):619-626.
|
||
Epub 2020 Dec 17
|
||
doi: 10.1136/heartjnl-2020-317036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33334864" target="_blank">33334864</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23800581">Aortopathies: etiologies, genetics, differential diagnosis, prognosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paterick TE,
|
||
Humphries JA,
|
||
Ammar KA,
|
||
Jan MF,
|
||
Loberg R,
|
||
Bush M,
|
||
Khandheria BK,
|
||
Tajik AJ</span><br />
|
||
<span class="medgenPMjournal">Am J Med</span>
|
||
2013 Aug;126(8):670-8.
|
||
Epub 2013 Jun 22
|
||
doi: 10.1016/j.amjmed.2013.01.029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23800581" target="_blank">23800581</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(aortic%20aneurysm%2C%20familial%20thoracic%208)%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 (9)</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/37644797">A case of aortic root replacement for annuloaortic ectasia due to Takayasu's arteritis in active inflammatory phase.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mikami T,
|
||
Shiiku C,
|
||
Numaguchi R,
|
||
Nishikawa M,
|
||
Oikawa T,
|
||
Yoshida I</span><br />
|
||
<span class="medgenPMjournal">Asian Cardiovasc Thorac Ann</span>
|
||
2023 Oct;31(8):731-734.
|
||
Epub 2023 Aug 29
|
||
doi: 10.1177/02184923231198568.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37644797" target="_blank">37644797</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35987908">Predictors and Rate of Progression of Aortic Root and Ascending Aorta Dilatation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eswarsingh A,
|
||
Bose A,
|
||
Islam T,
|
||
Venkataramanan SVA,
|
||
Muthyala A,
|
||
Shah SH,
|
||
Manohar SA,
|
||
Rupendu S,
|
||
Shah NS</span><br />
|
||
<span class="medgenPMjournal">Am J Cardiol</span>
|
||
2022 Oct 15;181:118-121.
|
||
Epub 2022 Aug 18
|
||
doi: 10.1016/j.amjcard.2022.06.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35987908" target="_blank">35987908</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34862003">Aortic Size and Clinical Care Pathways Before Type A Aortic Dissection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson DY,
|
||
Cavalcante J,
|
||
Schmidt C,
|
||
Thomas K,
|
||
Garberich R,
|
||
Pavlovec M,
|
||
Mudy K,
|
||
Bradley SM,
|
||
Harris KM</span><br />
|
||
<span class="medgenPMjournal">Am J Cardiol</span>
|
||
2022 Jan 15;163:104-108.
|
||
Epub 2021 Nov 30
|
||
doi: 10.1016/j.amjcard.2021.09.041.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34862003" target="_blank">34862003</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32652657">Giant ascending aortic aneurysm after aortic valve replacement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dregoesc MI,
|
||
Trifan CA,
|
||
Encica S,
|
||
Halloumi W,
|
||
Iancu AC</span><br />
|
||
<span class="medgenPMjournal">J Card Surg</span>
|
||
2020 Aug;35(8):2033-2034.
|
||
Epub 2020 Jul 11
|
||
doi: 10.1111/jocs.14755.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32652657" target="_blank">32652657</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%208%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 (94)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38619088">Similarity of aortic events between siblings with heritable thoracic aortic diseases: Clinical analysis focusing on identical twins and same-sex siblings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yagyu T,
|
||
Ida K,
|
||
Noguchi T</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2024 Aug;194(8):e63632.
|
||
Epub 2024 Apr 15
|
||
doi: 10.1002/ajmg.a.63632.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38619088" target="_blank">38619088</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37042257">Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yagyu T,
|
||
Noguchi T,
|
||
Asano Y,
|
||
Ida K,
|
||
Ogata S,
|
||
Nishimura K,
|
||
Matsuda H</span><br />
|
||
<span class="medgenPMjournal">J Am Heart Assoc</span>
|
||
2023 Apr 18;12(8):e028625.
|
||
Epub 2023 Apr 12
|
||
doi: 10.1161/JAHA.122.028625.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37042257" target="_blank">37042257</a><a href="/pmc/articles/PMC10227281" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35987908">Predictors and Rate of Progression of Aortic Root and Ascending Aorta Dilatation.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Eswarsingh A,
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Muthyala A,
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<div class="nl"><a target="_blank" href="/pubmed/29204794">Thoracic aortic aneurysm: unlocking the "silent killer" secrets.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Saeyeldin AA,
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Velasquez CA,
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Mahmood SUB,
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<div class="nl"><a target="_blank" href="/pubmed/26621141">Multidisciplinary Aortopathy Clinics Should Now Be the Standard of Care in Canada.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aortic%20aneurysm%2C%20familial%20thoracic%208%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 (20)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37042257">Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35987908">Predictors and Rate of Progression of Aortic Root and Ascending Aorta Dilatation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eswarsingh A,
|
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Bose A,
|
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Islam T,
|
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Venkataramanan SVA,
|
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Muthyala A,
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Shah SH,
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Manohar SA,
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Rupendu S,
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Shah NS</span><br />
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Epub 2022 Aug 18
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doi: 10.1016/j.amjcard.2022.06.032.
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<span class="bold">PMID: </span><a href="/pubmed/35987908" target="_blank">35987908</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/33249204" target="_blank">33249204</a></div>
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<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,
|
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Velasquez CA,
|
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Mahmood SUB,
|
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Brownstein AJ,
|
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Zafar MA,
|
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Ziganshin BA,
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Elefteriades JA</span><br />
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<span class="medgenPMjournal">Gen Thorac Cardiovasc Surg</span>
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2019 Jan;67(1):1-11.
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Epub 2017 Dec 4
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doi: 10.1007/s11748-017-0874-x.
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<span class="bold">PMID: </span><a href="/pubmed/29204794" target="_blank">29204794</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26621141">Multidisciplinary Aortopathy Clinics Should Now Be the Standard of Care in Canada.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Bradley TJ,
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Bowdin SC</span><br />
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<span class="medgenPMjournal">Can J Cardiol</span>
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Epub 2015 Oct 22
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doi: 10.1016/j.cjca.2015.10.003.
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<span class="bold">PMID: </span><a href="/pubmed/26621141" target="_blank">26621141</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aortic%20aneurysm%2C%20familial%20thoracic%208%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 (54)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<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>
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Jeremy R,
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<span class="bold">PMID: </span><a href="/pubmed/39424426" target="_blank">39424426</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35987908">Predictors and Rate of Progression of Aortic Root and Ascending Aorta Dilatation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eswarsingh A,
|
||
Bose A,
|
||
Islam T,
|
||
Venkataramanan SVA,
|
||
Muthyala A,
|
||
Shah SH,
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Manohar SA,
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Rupendu S,
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Shah NS</span><br />
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<span class="medgenPMjournal">Am J Cardiol</span>
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2022 Oct 15;181:118-121.
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Epub 2022 Aug 18
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doi: 10.1016/j.amjcard.2022.06.032.
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||
<span class="bold">PMID: </span><a href="/pubmed/35987908" target="_blank">35987908</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 />
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<span class="medgenPMjournal">Gen Thorac Cardiovasc Surg</span>
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2019 Jan;67(1):1-11.
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Epub 2017 Dec 4
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doi: 10.1007/s11748-017-0874-x.
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<span class="bold">PMID: </span><a href="/pubmed/29204794" target="_blank">29204794</a></div>
|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/28485889">Matrix metalloproteinase family polymorphisms and the risk of aortic aneurysmal diseases: A systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Li T,
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Lv Z,
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Jing JJ,
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Yang J,
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Yuan Y</span><br />
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<span class="medgenPMjournal">Clin Genet</span>
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2018 Jan;93(1):15-32.
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Epub 2017 Jul 18
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doi: 10.1111/cge.13050.
|
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<span class="bold">PMID: </span><a href="/pubmed/28485889" target="_blank">28485889</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22836090">The paradoxical TGF-β vasculopathies.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Akhurst RJ</span><br />
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<span class="medgenPMjournal">Nat Genet</span>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aortic%20aneurysm%2C%20familial%20thoracic%208%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 (43)</a></div></div>
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/29754327">The many faces of IgG4-related disease: report of a case with inaugural recurrent aortic aneurism ruptures and literature review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Luís M,
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Brites L,
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Fernandes B,
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Jesus D,
|
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Santiago T,
|
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Serra S,
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Rovisco J,
|
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Carvalho L,
|
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da Silva JAP,
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Malcata A</span><br />
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<span class="medgenPMjournal">Rheumatol Int</span>
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2018 Aug;38(8):1565-1570.
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||
Epub 2018 May 12
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||
doi: 10.1007/s00296-018-4046-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29754327" target="_blank">29754327</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28485889">Matrix metalloproteinase family polymorphisms and the risk of aortic aneurysmal diseases: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li T,
|
||
Lv Z,
|
||
Jing JJ,
|
||
Yang J,
|
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Yuan Y</span><br />
|
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<span class="medgenPMjournal">Clin Genet</span>
|
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2018 Jan;93(1):15-32.
|
||
Epub 2017 Jul 18
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||
doi: 10.1111/cge.13050.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28485889" target="_blank">28485889</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aortic%20aneurysm%2C%20familial%20thoracic%208%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
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|
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|
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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><li><a href="/gtr/tests?term=C3809513%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (24)</a></li>
|
||
<li><a href="/gtr/tests?term=C3809513%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (9)</a></li>
|
||
<li><a href="/gtr/tests?term=C3809513%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (35)</a></li>
|
||
<li><a href="/gtr/tests?term=C3809513%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (10)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3809513%5bDISCUI%5d" target="_blank">See all (45)</a></total></li>
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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=615436" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Aortic%20aneurysm,%20familial%20thoracic%208" target="_blank">ClinicalTrials.gov</a></li></ul></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%208)%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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