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<meta name="keywords" content="C0345050, aat1, aneurysm, thoracic aortic, annuloaortic ectasia, aortic aneurysm, familial thoracic, aortic aneurysm, familial thoracic 1, aortic aneurysm, thoracic, aortic dissection, familial, congenital abnormality, congenital aneurysm of ascending aorta, cystic medial necrosis of aorta, erdheim cystic medial necrosis of aorta, faa1, familial aortic aneurysm, familial aortic dissection, familial taad, familial thoracic aortic aneurysm, familial thoracic aortic aneurysm and 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="Aneurysms and dissections of the aorta usually result from degenerative changes in the aortic wall. Thoracic aortic aneurysms and dissections are primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. In contrast, degeneration leading to abdominal aortic aneurysm (100070) is usually caused by a combination of factors including age, atherosclerosis, hypertension, and infectious, inflammatory, or autoimmune processes. Medial necrosis and thoracic aortic aneurysm/dissection are known to occur in certain connective tissue diseases such as Marfan syndrome (154700), and vascular (type IV) Ehlers-Danlos syndrome (130050). More commonly, however, medial necrosis occurs in the absence of a clearly identifiable syndrome. Genetic Heterogeneity of Thoracic Aortic Aneurysm Loci for isolated thoracic aortic aneurysm have been identified on chromosomes 11q (AAT1) and 5q (AAT2; 607087). Mutation in the MYH11 gene (160745) on chromosome 16p causes AAT4 (132900). Mutation in the ACTA2 gene (102620) on chromosome 10q causes AAT6 (611788). Mutation in the MYLK gene (600922) on chromosome 3q21 causes AAT7 (613780). Mutation in the PRKG1 gene (176894) on chromosome 10q11 causes AAT8 (615436). Mutation in the MFAP5 gene (601103) on chromosome 12p13 causes AAT9 (616166). Mutation in the LOX gene (153455) on chromosome 5q23 causes AAT10 (617168). Mutation in the FOXE3 gene (601094) on chromosome 1p33 causes susceptibility to AAT11 (617349). Thoracic aortic aneurysm with dissection (e.g., AAT3 and AAT5) can occur as a manifestation of the Loeys-Dietz syndrome (see LDS2, 610168 and LDS1, 609192, caused by mutation in the TGFBR2 (190182) and TGFBR1 (190181) genes, respectively). Reviews Pyeritz (2014) reviewed heritable thoracic aortic disorders with particular attention to causative genes, including components of the extracellular matrix, vascular smooth muscle cytoskeleton, and TGF-beta and other signaling pathways." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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||
<!--
|
||
UID=91038
|
||
ConceptID=C0345050
|
||
-->
|
||
<!--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">Congenital aneurysm of ascending aorta<span class="h1sub">(AAT1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91038</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.">C0345050</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>AAT1; ANNULOAORTIC ECTASIA; AORTIC ANEURYSM, FAMILIAL THORACIC 1; Aortic aneurysm, thoracic; Familial aortic dissection; Familial thoracic aortic aneurysm</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Familial aortic dissection (45894003); Congenital aneurysm of ascending aorta (253646008); Annuloaortic ectasia (253646008)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0024559" target="_blank">MONDO:0024559</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/607086" target="_blank">607086</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=229">ORPHA229</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">Aneurysms and dissections of the aorta usually result from degenerative changes in the aortic wall. Thoracic aortic aneurysms and dissections are primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. In contrast, degeneration leading to abdominal aortic aneurysm (100070) is usually caused by a combination of factors including age, atherosclerosis, hypertension, and infectious, inflammatory, or autoimmune processes. Medial necrosis and thoracic aortic aneurysm/dissection are known to occur in certain connective tissue diseases such as Marfan syndrome (154700), and vascular (type IV) Ehlers-Danlos syndrome (130050). More commonly, however, medial necrosis occurs in the absence of a clearly identifiable syndrome. Genetic Heterogeneity of Thoracic Aortic Aneurysm Loci for isolated thoracic aortic aneurysm have been identified on chromosomes 11q (AAT1) and 5q (AAT2; 607087). Mutation in the MYH11 gene (160745) on chromosome 16p causes AAT4 (132900). Mutation in the ACTA2 gene (102620) on chromosome 10q causes AAT6 (611788). Mutation in the MYLK gene (600922) on chromosome 3q21 causes AAT7 (613780). Mutation in the PRKG1 gene (176894) on chromosome 10q11 causes AAT8 (615436). Mutation in the MFAP5 gene (601103) on chromosome 12p13 causes AAT9 (616166). Mutation in the LOX gene (153455) on chromosome 5q23 causes AAT10 (617168). Mutation in the FOXE3 gene (601094) on chromosome 1p33 causes susceptibility to AAT11 (617349). Thoracic aortic aneurysm with dissection (e.g., AAT3 and AAT5) can occur as a manifestation of the Loeys-Dietz syndrome (see LDS2, 610168 and LDS1, 609192, caused by mutation in the TGFBR2 (190182) and TGFBR1 (190181) genes, respectively). Reviews Pyeritz (2014) reviewed heritable thoracic aortic disorders with particular attention to causative genes, including components of the extracellular matrix, vascular smooth muscle cytoskeleton, and TGF-beta and other signaling pathways. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
<div class="portlet mgSection" id="ID_118">
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||
<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><li><a href="#tabORDO">Orphanet</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=CN078214[DISCUI]&test_type=Clinical" ref="ncbi_uid=450537">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</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=450537" ref="ncbi_uid=450537">V</a></span></span><span class="TLline"><a href="/medgen/450537" ref="tree=GTR&ncbi_uid=450537&link_uid=450537" title="View MedGen record for 'Familial aortopathy'">Familial aortopathy</a></span><ul><li class="matched_ds"><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">Congenital aneurysm of ascending aorta</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268338[DISCUI]&test_type=Clinical" ref="ncbi_uid=82790">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82790" target="_blank" href="/omim/120180">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1494/" ref="ncbi_uid=82790">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=82790" ref="ncbi_uid=82790">V</a></span></span><span class="TLline"><a href="/medgen/82790" ref="tree=GTR&ncbi_uid=82790&link_uid=82790" title="View MedGen record for 'Ehlers-Danlos syndrome, type 4'">Ehlers-Danlos syndrome, type 4</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 unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/541287" ref="tree=GTR&ncbi_uid=541287&link_uid=541287" title="View MedGen record for 'Autosomal recessive Ehlers-Danlos syndrome, vascular type'">Autosomal recessive Ehlers-Danlos syndrome, vascular type</a></span></li><li class="TLclosed"><span class="TLline"><a href="/medgen/541286" ref="tree=GTR&ncbi_uid=541286&link_uid=541286" title="View MedGen record for 'Ehlers-Danlos syndrome, dominant type 4'">Ehlers-Danlos syndrome, dominant type 4</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551955[DISCUI]&test_type=Clinical" ref="ncbi_uid=1646567">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1646567" target="_blank" href="/omim/190181">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1133/" ref="ncbi_uid=1646567">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1646567" ref="ncbi_uid=1646567">V</a></span></span><span class="TLline"><a href="/medgen/1646567" ref="tree=GTR&ncbi_uid=1646567&link_uid=1646567" title="View MedGen record for 'Loeys-Dietz syndrome 1'">Loeys-Dietz syndrome 1</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=C0024796[DISCUI]&test_type=Clinical" ref="ncbi_uid=44287">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=44287" target="_blank" href="/omim/134797">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1335/" ref="ncbi_uid=44287">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=44287" ref="ncbi_uid=44287">V</a></span></span><span class="TLline"><a href="/medgen/44287" ref="tree=GTR&ncbi_uid=44287&link_uid=44287" title="View MedGen record for 'Marfan syndrome'">Marfan syndrome</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/450537" ref="tree=MeSH" title="MedGen record for Familial aortopathy">Familial aortopathy</a></span><ul><li><span class="matched_ds">Congenital aneurysm of ascending aorta</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=3258&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Congenital aneurysm of ascending aorta</span> in Orphanet.</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/27243624">Modern management of adult coarctation: transcatheter and surgical options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schneider H,
|
||
Uebing A,
|
||
Shore DF</span><br />
|
||
<span class="medgenPMjournal">J Cardiovasc Surg (Torino)</span>
|
||
2016 Aug;57(4):557-68.
|
||
Epub 2016 May 31
|
||
<span class="bold">PMID: </span><a href="/pubmed/27243624" target="_blank">27243624</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 class="nl"><a target="_blank" href="/pubmed/19344538">Correlations of phenotype and genotype in relation to morphologic remodelling of the aortic root in patients with Turner's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prandstraller D,
|
||
Mazzanti L,
|
||
Giardini A,
|
||
Lovato L,
|
||
Tamburrino F,
|
||
Scarano E,
|
||
Cicognani A,
|
||
Fattori R,
|
||
Picchio FM</span><br />
|
||
<span class="medgenPMjournal">Cardiol Young</span>
|
||
2009 Jun;19(3):264-71.
|
||
Epub 2009 Apr 6
|
||
doi: 10.1017/S1047951109004016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19344538" target="_blank">19344538</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(congenital%20aneurysm%20of%20ascending%20aorta)%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 (5)</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/38700707">Unveiling cellular and molecular aspects of ascending thoracic aortic aneurysms and dissections.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ganizada BH,
|
||
Veltrop RJA,
|
||
Akbulut AC,
|
||
Koenen RR,
|
||
Accord R,
|
||
Lorusso R,
|
||
Maessen JG,
|
||
Reesink K,
|
||
Bidar E,
|
||
Schurgers LJ</span><br />
|
||
<span class="medgenPMjournal">Basic Res Cardiol</span>
|
||
2024 Jun;119(3):371-395.
|
||
Epub 2024 May 3
|
||
doi: 10.1007/s00395-024-01053-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38700707" target="_blank">38700707</a><a href="/pmc/articles/PMC11143007" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36994934">Fate of the unoperated ascending thoracic aortic aneurysm: three-decade experience from the Aortic Institute at Yale University.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu J,
|
||
Zafar MA,
|
||
Liu Y,
|
||
Chen JF,
|
||
Li Y,
|
||
Ziganshin BA,
|
||
Ellauzi H,
|
||
Mukherjee SK,
|
||
Rizzo JA,
|
||
Elefteriades JA</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2023 Nov 14;44(43):4579-4588.
|
||
doi: 10.1093/eurheartj/ehad148.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36994934" target="_blank">36994934</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28084959">Sudden death due to aortic pathology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Papagiannis J</span><br />
|
||
<span class="medgenPMjournal">Cardiol Young</span>
|
||
2017 Jan;27(S1):S36-S42.
|
||
doi: 10.1017/S1047951116002213.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28084959" target="_blank">28084959</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21092795">Replacement of the ascending aorta in bicuspid aortic valve disease: where do we draw the line?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sundt TM 3rd</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
2010 Dec;140(6 Suppl):S41-4; discussion S45-51.
|
||
doi: 10.1016/j.jtcvs.2010.08.053.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21092795" target="_blank">21092795</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20579534">Bicuspid aortic valve disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Siu SC,
|
||
Silversides CK</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2010 Jun 22;55(25):2789-800.
|
||
doi: 10.1016/j.jacc.2009.12.068.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20579534" target="_blank">20579534</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20aneurysm%20of%20ascending%20aorta%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 (158)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38700707">Unveiling cellular and molecular aspects of ascending thoracic aortic aneurysms and dissections.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ganizada BH,
|
||
Veltrop RJA,
|
||
Akbulut AC,
|
||
Koenen RR,
|
||
Accord R,
|
||
Lorusso R,
|
||
Maessen JG,
|
||
Reesink K,
|
||
Bidar E,
|
||
Schurgers LJ</span><br />
|
||
<span class="medgenPMjournal">Basic Res Cardiol</span>
|
||
2024 Jun;119(3):371-395.
|
||
Epub 2024 May 3
|
||
doi: 10.1007/s00395-024-01053-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38700707" target="_blank">38700707</a><a href="/pmc/articles/PMC11143007" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28084959">Sudden death due to aortic pathology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Papagiannis J</span><br />
|
||
<span class="medgenPMjournal">Cardiol Young</span>
|
||
2017 Jan;27(S1):S36-S42.
|
||
doi: 10.1017/S1047951116002213.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28084959" target="_blank">28084959</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23597609">Closure of ascending aorta pseudoaneurysm to right atrium fistula.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gendi SM,
|
||
Kenny D,
|
||
Hibbeln J,
|
||
Hijazi ZM</span><br />
|
||
<span class="medgenPMjournal">JACC Cardiovasc Interv</span>
|
||
2013 Apr;6(4):418-9.
|
||
doi: 10.1016/j.jcin.2012.09.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23597609" target="_blank">23597609</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20579534">Bicuspid aortic valve disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Siu SC,
|
||
Silversides CK</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2010 Jun 22;55(25):2789-800.
|
||
doi: 10.1016/j.jacc.2009.12.068.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20579534" target="_blank">20579534</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16129122">The bicuspid aortic valve.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braverman AC,
|
||
Güven H,
|
||
Beardslee MA,
|
||
Makan M,
|
||
Kates AM,
|
||
Moon MR</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Cardiol</span>
|
||
2005 Sep;30(9):470-522.
|
||
doi: 10.1016/j.cpcardiol.2005.06.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16129122" target="_blank">16129122</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20aneurysm%20of%20ascending%20aorta%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 (147)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31522139">Impact of Ascending Aorta Dilation on Mid-Term Outcome After Transcatheter Aortic Valve Implantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ancona MB,
|
||
Moroni F,
|
||
Chieffo A,
|
||
Spangaro A,
|
||
Federico F,
|
||
Ferri LA,
|
||
Bellini B,
|
||
Carlino M,
|
||
Romano V,
|
||
Palmisano A,
|
||
Nicoletti V,
|
||
Esposito A,
|
||
Buzzatti N,
|
||
Agricola E,
|
||
Ancona F,
|
||
Azzalini L,
|
||
Montorfano M</span><br />
|
||
<span class="medgenPMjournal">J Invasive Cardiol</span>
|
||
2019 Oct;31(10):278-281.
|
||
Epub 2019 Sep 15
|
||
<span class="bold">PMID: </span><a href="/pubmed/31522139" target="_blank">31522139</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29149323">Should the dilated ascending aorta be repaired at the time of bicuspid aortic valve replacement?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaneko T,
|
||
Shekar P,
|
||
Ivkovic V,
|
||
Longford NT,
|
||
Huang CC,
|
||
Sigurdsson MI,
|
||
Neely RC,
|
||
Yammine M,
|
||
Ejiofor JI,
|
||
Montiero Vieira V,
|
||
Shahram JT,
|
||
Habchi KM,
|
||
Malzberg GW,
|
||
Martin PS,
|
||
Bloom J,
|
||
Isselbacher EM,
|
||
Muehlschlegel JD;
|
||
Bicuspid Aortic Valve Consortium (BAVCon),
|
||
Sundt TM 3rd,
|
||
Body SC</span><br />
|
||
<span class="medgenPMjournal">Eur J Cardiothorac Surg</span>
|
||
2018 Mar 1;53(3):560-568.
|
||
doi: 10.1093/ejcts/ezx387.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29149323" target="_blank">29149323</a><a href="/pmc/articles/PMC6018902" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27243624">Modern management of adult coarctation: transcatheter and surgical options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schneider H,
|
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Uebing A,
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Shore DF</span><br />
|
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<span class="medgenPMjournal">J Cardiovasc Surg (Torino)</span>
|
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2016 Aug;57(4):557-68.
|
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Epub 2016 May 31
|
||
<span class="bold">PMID: </span><a href="/pubmed/27243624" target="_blank">27243624</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21092795">Replacement of the ascending aorta in bicuspid aortic valve disease: where do we draw the line?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sundt TM 3rd</span><br />
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<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
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2010 Dec;140(6 Suppl):S41-4; discussion S45-51.
|
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|
||
<span class="bold">PMID: </span><a href="/pubmed/21092795" target="_blank">21092795</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/5381475">Supravalvular aortic stenosis and multiple aneurysms of the ascending aorta.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Scheinin TM,
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Inberg MV,
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Kallio V</span><br />
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<span class="medgenPMjournal">Scand J Thorac Cardiovasc Surg</span>
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1969;3(2):107-11.
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doi: 10.3109/14017436909131785.
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<span class="bold">PMID: </span><a href="/pubmed/5381475" target="_blank">5381475</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20aneurysm%20of%20ascending%20aorta%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 (44)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36688313">Prevalence and development of aortic dilation and dissection in women with Turner syndrome: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meccanici F,
|
||
de Bruijn JWC,
|
||
Dommisse JS,
|
||
Takkenberg JJM,
|
||
van den Bosch AE,
|
||
Roos-Hesselink JW</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Cardiovasc Ther</span>
|
||
2023 Feb;21(2):133-144.
|
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Epub 2023 Jan 30
|
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doi: 10.1080/14779072.2023.2172403.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36688313" target="_blank">36688313</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32599025">Sex differences in bicuspid aortic valve disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kong WKF,
|
||
Bax JJ,
|
||
Michelena HI,
|
||
Delgado V</span><br />
|
||
<span class="medgenPMjournal">Prog Cardiovasc Dis</span>
|
||
2020 Jul-Aug;63(4):452-456.
|
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Epub 2020 Jun 27
|
||
doi: 10.1016/j.pcad.2020.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32599025" target="_blank">32599025</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23535830">Giant pseudoaneurysm of the ascending aorta after valve replacement. Medical follow-up for 22 months without complication.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cabuk G,
|
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Guray Y,
|
||
Okten S,
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||
Tufekcioglu O,
|
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Guray U</span><br />
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<span class="medgenPMjournal">Herz</span>
|
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2014 Mar;39(2):279-81.
|
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Epub 2013 Mar 28
|
||
doi: 10.1007/s00059-013-3789-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23535830" target="_blank">23535830</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23597609">Closure of ascending aorta pseudoaneurysm to right atrium fistula.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gendi SM,
|
||
Kenny D,
|
||
Hibbeln J,
|
||
Hijazi ZM</span><br />
|
||
<span class="medgenPMjournal">JACC Cardiovasc Interv</span>
|
||
2013 Apr;6(4):418-9.
|
||
doi: 10.1016/j.jcin.2012.09.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23597609" target="_blank">23597609</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20579534">Bicuspid aortic valve disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Siu SC,
|
||
Silversides CK</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2010 Jun 22;55(25):2789-800.
|
||
doi: 10.1016/j.jacc.2009.12.068.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20579534" target="_blank">20579534</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20aneurysm%20of%20ascending%20aorta%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 (97)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37147129">Pregnancy-related aortic complications in women with bicuspid aortic valve.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galian-Gay L,
|
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Pijuan-Domenech A,
|
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Cantalapiedra-Romero J,
|
||
Serrano B,
|
||
Goya M,
|
||
Maiz N,
|
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Casellas M,
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Manrique S,
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Suàrez-Edo E,
|
||
Miranda-Barrio B,
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Gordon Ramirez B,
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Teixidó-Turà G,
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||
Gutierrez-Moreno L,
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||
González-Fernández V,
|
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Dux-Santoy L,
|
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Guala A,
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Evangelista A,
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Dos-Subirà L,
|
||
Rodriguez-Palomares JF,
|
||
Ferreira-Gonzalez I</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2023 Jul 12;109(15):1153-1158.
|
||
doi: 10.1136/heartjnl-2022-322328.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37147129" target="_blank">37147129</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36688313">Prevalence and development of aortic dilation and dissection in women with Turner syndrome: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meccanici F,
|
||
de Bruijn JWC,
|
||
Dommisse JS,
|
||
Takkenberg JJM,
|
||
van den Bosch AE,
|
||
Roos-Hesselink JW</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Cardiovasc Ther</span>
|
||
2023 Feb;21(2):133-144.
|
||
Epub 2023 Jan 30
|
||
doi: 10.1080/14779072.2023.2172403.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36688313" target="_blank">36688313</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35748961">Controlled Comparison of Simulated Hemodynamics Across Tricuspid and Bicuspid Aortic Valves.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaiser AD,
|
||
Shad R,
|
||
Schiavone N,
|
||
Hiesinger W,
|
||
Marsden AL</span><br />
|
||
<span class="medgenPMjournal">Ann Biomed Eng</span>
|
||
2022 Sep;50(9):1053-1072.
|
||
Epub 2022 Jun 24
|
||
doi: 10.1007/s10439-022-02983-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35748961" target="_blank">35748961</a><a href="/pmc/articles/PMC10775905" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32599025">Sex differences in bicuspid aortic valve disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kong WKF,
|
||
Bax JJ,
|
||
Michelena HI,
|
||
Delgado V</span><br />
|
||
<span class="medgenPMjournal">Prog Cardiovasc Dis</span>
|
||
2020 Jul-Aug;63(4):452-456.
|
||
Epub 2020 Jun 27
|
||
doi: 10.1016/j.pcad.2020.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32599025" target="_blank">32599025</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23597609">Closure of ascending aorta pseudoaneurysm to right atrium fistula.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gendi SM,
|
||
Kenny D,
|
||
Hibbeln J,
|
||
Hijazi ZM</span><br />
|
||
<span class="medgenPMjournal">JACC Cardiovasc Interv</span>
|
||
2013 Apr;6(4):418-9.
|
||
doi: 10.1016/j.jcin.2012.09.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23597609" target="_blank">23597609</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20aneurysm%20of%20ascending%20aorta%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 (71)</a></div></div>
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<div class="portlet_content ln">
|
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<div class="nl"><a target="_blank" href="/pubmed/36688313">Prevalence and development of aortic dilation and dissection in women with Turner syndrome: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meccanici F,
|
||
de Bruijn JWC,
|
||
Dommisse JS,
|
||
Takkenberg JJM,
|
||
van den Bosch AE,
|
||
Roos-Hesselink JW</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Cardiovasc Ther</span>
|
||
2023 Feb;21(2):133-144.
|
||
Epub 2023 Jan 30
|
||
doi: 10.1080/14779072.2023.2172403.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36688313" target="_blank">36688313</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20aneurysm%20of%20ascending%20aorta%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>
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<a href="/pubmed/clinical?term=Congenital%20aneurysm%20of%20ascending%20aorta" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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