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<!--
|
||
UID=924785
|
||
ConceptID=C4284414
|
||
-->
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<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1120/bin/taa-Image001.gif" src-large="/books/NBK1120/bin/taa-Image001.jpg" /></a><br /><a href="/books/NBK1120/figure/taa.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1120/bin/taa-Image002.gif" src-large="/books/NBK1120/bin/taa-Image002.jpg" /></a><br /><a href="/books/NBK1120/figure/taa.F2/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Aortic aneurysm, familial thoracic 10<span class="h1sub">(AAT10)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924785</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.">C4284414</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>AAT10</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="LOX - ID: 4015 - NCBI Gene" href="/gene/4015" class="medgenPMinfo">LOX</a> (5q23.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014950" target="_blank">MONDO:0014950</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617168" target="_blank">617168</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>
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<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 LOX 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">
|
||
<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_3623"><div><strong>Coronary artery atherosclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3623</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.">C0010054</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3623">Feature record</a> | <a href="/medgen?term=%22Coronary%20artery%20atherosclerosis%22%5BClinical%20Features%5D%20OR%203623%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7670"><div><strong>Mitral regurgitation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7670</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.">C0026266</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7670">Feature record</a> | <a href="/medgen?term=%22Mitral%20regurgitation%22%5BClinical%20Features%5D%20OR%207670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57436"><div><strong>Bicuspid aortic valve</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57436</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.">C0149630</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta (Tan et al., 2012; Luyckx et al., 2019; Park et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57436">Feature record</a> | <a href="/medgen?term=%22Bicuspid%20aortic%20valve%22%5BClinical%20Features%5D%20OR%2057436%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57442"><div><strong>Left ventricular hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57442</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.">C0149721</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Enlargement or increased size of the heart left ventricle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57442">Feature record</a> | <a href="/medgen?term=%22Left%20ventricular%20hypertrophy%22%5BClinical%20Features%5D%20OR%2057442%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_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_163631"><div><strong>Ascending tubular aorta aneurysm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163631</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.">C0856747</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 tubular part of the ascending aorta.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163631">Feature record</a> | <a href="/medgen?term=%22Ascending%20tubular%20aorta%20aneurysm%22%5BClinical%20Features%5D%20OR%20163631%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_852900"><div><strong>Aortic arch aneurysm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>852900</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.">C0856748</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 aortic arch.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/852900">Feature record</a> | <a href="/medgen?term=%22Aortic%20arch%20aneurysm%22%5BClinical%20Features%5D%20OR%20852900%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_720712"><div><strong>Aortic root aneurysm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>720712</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.">C1298820</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 aortic root.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/720712">Feature record</a> | <a href="/medgen?term=%22Aortic%20root%20aneurysm%22%5BClinical%20Features%5D%20OR%20720712%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_1634425"><div><strong>Fusiform ascending tubular aorta aneurysm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1634425</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.">C4703458</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A concentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves the full circumference of the vessel wall.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1634425">Feature record</a> | <a href="/medgen?term=%22Fusiform%20ascending%20tubular%20aorta%20aneurysm%22%5BClinical%20Features%5D%20OR%201634425%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_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</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.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336793"><div><strong>Joint hypermobility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336793</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.">C1844820</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336793">Feature record</a> | <a href="/medgen?term=%22Joint%20hypermobility%22%5BClinical%20Features%5D%20OR%20336793%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_11850"><div><strong>Dental crowding</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11850</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.">C0040433</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Changes in alignment of teeth in the dental arch</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11850">Feature record</a> | <a href="/medgen?term=%22Dental%20crowding%22%5BClinical%20Features%5D%20OR%2011850%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="divPopper rprt" id="clin_57541"><div><strong>Striae distensae</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57541</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.">C0152459</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Acquired Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Striae%20distensae%22%5BClinical%20Features%5D%20OR%2057541%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44558"><div><strong>Myopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44558</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.">C0027092</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44558">Feature record</a> | <a href="/medgen?term=%22Myopia%22%5BClinical%20Features%5D%20OR%2044558%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_11850" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dental crowding</a></span></li><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 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_852900" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aortic arch aneurysm</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_720712" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aortic root 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_163631" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ascending tubular aorta aneurysm</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57436" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bicuspid aortic valve</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3623" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coronary artery atherosclerosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1634425" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fusiform ascending tubular aorta aneurysm</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57442" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Left ventricular hypertrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitral regurgitation</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 eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44558" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopia</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Striae distensae</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_336793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joint hypermobility</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><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</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="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="matched_ds"><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">Aortic aneurysm, familial thoracic 10</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 10</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/33475873">Role of Clinical Genetic Testing in the Management of Aortopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harris SL,
|
||
Lindsay ME</span><br />
|
||
<span class="medgenPMjournal">Curr Cardiol Rep</span>
|
||
2021 Jan 21;23(2):10.
|
||
doi: 10.1007/s11886-020-01435-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33475873" target="_blank">33475873</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28102232">Aetiology and management of hereditary aortopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verstraeten A,
|
||
Luyckx I,
|
||
Loeys B</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Cardiol</span>
|
||
2017 Apr;14(4):197-208.
|
||
Epub 2017 Jan 19
|
||
doi: 10.1038/nrcardio.2016.211.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28102232" target="_blank">28102232</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26604122">Genetic Testing in Thoracic Aortic Disease--When, Why, and How?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bowdin SC,
|
||
Laberge AM,
|
||
Verstraeten A,
|
||
Loeys BL</span><br />
|
||
<span class="medgenPMjournal">Can J Cardiol</span>
|
||
2016 Jan;32(1):131-4.
|
||
Epub 2015 Sep 30
|
||
doi: 10.1016/j.cjca.2015.09.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26604122" target="_blank">26604122</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(aortic%20aneurysm%2C%20familial%20thoracic%2010)%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/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/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/33052376">Clinical Features and Outcomes of Pregnancy-Related Acute Aortic Dissection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braverman AC,
|
||
Mittauer E,
|
||
Harris KM,
|
||
Evangelista A,
|
||
Pyeritz RE,
|
||
Brinster D,
|
||
Conklin L,
|
||
Suzuki T,
|
||
Fanola C,
|
||
Ouzounian M,
|
||
Chen E,
|
||
Myrmel T,
|
||
Bekeredjian R,
|
||
Hutchison S,
|
||
Coselli J,
|
||
Gilon D,
|
||
O'Gara P,
|
||
Davis M,
|
||
Isselbacher E,
|
||
Eagle K</span><br />
|
||
<span class="medgenPMjournal">JAMA Cardiol</span>
|
||
2021 Jan 1;6(1):58-66.
|
||
doi: 10.1001/jamacardio.2020.4876.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33052376" target="_blank">33052376</a><a href="/pmc/articles/PMC7557715" 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/30289756">Bicuspid aortic valve: Basics and beyond.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah SY,
|
||
Higgins A,
|
||
Desai MY</span><br />
|
||
<span class="medgenPMjournal">Cleve Clin J Med</span>
|
||
2018 Oct;85(10):779-784.
|
||
doi: 10.3949/ccjm.85a.17069.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30289756" target="_blank">30289756</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aortic%20aneurysm%2C%20familial%20thoracic%2010%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 (85)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<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/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/33052376">Clinical Features and Outcomes of Pregnancy-Related Acute Aortic Dissection.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Braverman AC,
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Mittauer E,
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Harris KM,
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Evangelista A,
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Pyeritz RE,
|
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Brinster D,
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Conklin L,
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Suzuki T,
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Fanola C,
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Ouzounian M,
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Chen E,
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Myrmel T,
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Bekeredjian R,
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Hutchison S,
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Coselli J,
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Gilon D,
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O'Gara P,
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Davis M,
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Isselbacher E,
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Eagle K</span><br />
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<span class="medgenPMjournal">JAMA Cardiol</span>
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2021 Jan 1;6(1):58-66.
|
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doi: 10.1001/jamacardio.2020.4876.
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<span class="bold">PMID: </span><a href="/pubmed/33052376" target="_blank">33052376</a><a href="/pmc/articles/PMC7557715" target="_blank" class="PubMedFree">Free PMC Article</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>
|
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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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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>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/28102232">Aetiology and management of hereditary aortopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Verstraeten A,
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Luyckx I,
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Loeys B</span><br />
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<span class="medgenPMjournal">Nat Rev Cardiol</span>
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2017 Apr;14(4):197-208.
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<span class="bold">PMID: </span><a href="/pubmed/28102232" target="_blank">28102232</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aortic%20aneurysm%2C%20familial%20thoracic%2010%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 (63)</a></div><h3 class="subhead">Therapy</h3>
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<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>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wei Y,
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Feng Y,
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Danesh Yazdi M,
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Yin K,
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Castro E,
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Shtein A,
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Qiu X,
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Peralta AA,
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Coull BA,
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Dominici F,
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Schwartz JD</span><br />
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<span class="medgenPMjournal">BMJ</span>
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2024 Feb 21;384:e076939.
|
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doi: 10.1136/bmj-2023-076939.
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/32819152">Clinical outcome of acute thoracic aortic syndrome in nonagenarians.</a></div>
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Okamura H,
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Miyagawa A,
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Kitada Y,
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Adachi H</span><br />
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<span class="medgenPMjournal">Asian Cardiovasc Thorac Ann</span>
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2020 Nov;28(9):577-582.
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Epub 2020 Aug 20
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doi: 10.1177/0218492320952654.
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<span class="bold">PMID: </span><a href="/pubmed/32819152" target="_blank">32819152</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32337941">Frozen elephant trunk with straight vascular prosthesis: single-center experience with a review of current trends.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jakob H,
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Moughal S,
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Bashir M</span><br />
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<span class="medgenPMjournal">J Cardiovasc Surg (Torino)</span>
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2020 Jun;61(3):301-307.
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Epub 2020 Apr 27
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doi: 10.23736/S0021-9509.20.11401-0.
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<span class="bold">PMID: </span><a href="/pubmed/32337941" target="_blank">32337941</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29567025">Endovascular thoracic aortic repair in confirmed or suspected genetically triggered thoracic aortic dissection.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Shalhub S,
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Eagle KA,
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Asch FM,
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LeMaire SA,
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Milewicz DM;
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GenTAC Investigators for the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) Consortium</span><br />
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<span class="medgenPMjournal">J Vasc Surg</span>
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2018 Aug;68(2):364-371.
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<span class="bold">PMID: </span><a href="/pubmed/29567025" target="_blank">29567025</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27058497">The use of lumbar drains in preventing spinal cord injury following thoracoabdominal aortic aneurysm repair: an updated systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan NR,
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Smalley Z,
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Nesvick CL,
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Lee SL,
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Michael LM 2nd</span><br />
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<span class="medgenPMjournal">J Neurosurg Spine</span>
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2016 Sep;25(3):383-93.
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Epub 2016 Apr 8
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doi: 10.3171/2016.1.SPINE151199.
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<span class="bold">PMID: </span><a href="/pubmed/27058497" target="_blank">27058497</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aortic%20aneurysm%2C%20familial%20thoracic%2010%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 (21)</a></div><h3 class="subhead">Prognosis</h3>
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<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>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mansoorshahi S,
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Yetman AT,
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Bissell MM,
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Kim YY,
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Michelena HI,
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De Backer J,
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Mosquera LM,
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Hui DS,
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Caffarelli A,
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Andreassi MG,
|
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Foffa I,
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Guo D,
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Citro R,
|
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De Marco M,
|
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Tretter JT,
|
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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 />
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<span class="medgenPMjournal">Am J Hum Genet</span>
|
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2024 Oct 3;111(10):2219-2231.
|
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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/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,
|
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Shah NS</span><br />
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<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/33052376">Clinical Features and Outcomes of Pregnancy-Related Acute Aortic Dissection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braverman AC,
|
||
Mittauer E,
|
||
Harris KM,
|
||
Evangelista A,
|
||
Pyeritz RE,
|
||
Brinster D,
|
||
Conklin L,
|
||
Suzuki T,
|
||
Fanola C,
|
||
Ouzounian M,
|
||
Chen E,
|
||
Myrmel T,
|
||
Bekeredjian R,
|
||
Hutchison S,
|
||
Coselli J,
|
||
Gilon D,
|
||
O'Gara P,
|
||
Davis M,
|
||
Isselbacher E,
|
||
Eagle K</span><br />
|
||
<span class="medgenPMjournal">JAMA Cardiol</span>
|
||
2021 Jan 1;6(1):58-66.
|
||
doi: 10.1001/jamacardio.2020.4876.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33052376" target="_blank">33052376</a><a href="/pmc/articles/PMC7557715" 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%2010%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 (49)</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/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/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%2010%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 (37)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/27058497">The use of lumbar drains in preventing spinal cord injury following thoracoabdominal aortic aneurysm repair: an updated systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan NR,
|
||
Smalley Z,
|
||
Nesvick CL,
|
||
Lee SL,
|
||
Michael LM 2nd</span><br />
|
||
<span class="medgenPMjournal">J Neurosurg Spine</span>
|
||
2016 Sep;25(3):383-93.
|
||
Epub 2016 Apr 8
|
||
doi: 10.3171/2016.1.SPINE151199.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27058497" target="_blank">27058497</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aortic%20aneurysm%2C%20familial%20thoracic%2010%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 (1)</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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|
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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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<div>
|
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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=C4284414%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C4284414%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (22)</a></li>
|
||
<li><a href="/gtr/tests?term=C4284414%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (10)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4284414%5bDISCUI%5d" target="_blank">See all (23)</a></total></li>
|
||
</ul></div>
|
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</div>
|
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<div class="portlet mgSection" id="ID_119">
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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=617168" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Aortic%20aneurysm,%20familial%20thoracic%2010" 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%2010)%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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<a href="/pubmed/20301299" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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<a href="/pubmed/clinical?term=Aortic%20aneurysm,%20familial%20thoracic%2010" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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