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<meta name="keywords" content="C3164445, abnormal aortic valve morphology, abnormality of aortic valve, abnormality of the aortic valve, anatomical abnormality, aortic valve abnormalities, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Any abnormality of the aortic valve." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=488999
|
||
ConceptID=C3164445
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal aortic valve morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488999</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C3164445</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Abnormality of the aortic valve</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Abnormality of aortic valve (448743001)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001646">HP:0001646</a></td></tr>
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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 abnormality of the aortic valve. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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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>
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<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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3164445[DISCUI]&test_type=Clinical" ref="ncbi_uid=488999">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=488999" ref="ncbi_uid=488999">V</a></span></span><span class="TLline">Abnormal aortic valve morphology</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/2848" ref="tree=MeSH" title="MedGen record for Disorder of cardiovascular system">Disorder of cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/116727" ref="tree=MeSH" title="MedGen record for Abnormality of the cardiovascular system">Abnormality of the cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/892473" ref="tree=MeSH" title="MedGen record for Abnormal cardiovascular system morphology">Abnormal cardiovascular system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/6748" ref="tree=MeSH" title="MedGen record for Abnormal heart morphology">Abnormal heart morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892837" ref="tree=MeSH" title="MedGen record for Abnormal heart valve morphology">Abnormal heart valve morphology</a></span><ul><li><span class="matched_ds">Abnormal aortic valve morphology</span><ul><li><span class="TLline"><a href="/medgen/1623463" ref="tree=MeSH" title="MedGen record for Abnormal aortic valve cusp morphology">Abnormal aortic valve cusp morphology</a></span><ul><li><span class="TLline"><a href="/medgen/756741" ref="tree=MeSH" title="MedGen record for Absent aortic valve cusps">Absent aortic valve cusps</a></span></li><li><span class="TLline"><a href="/medgen/57436" ref="tree=MeSH" title="MedGen record for Bicuspid aortic valve">Bicuspid aortic valve</a></span><ul><li><span class="TLline"><a href="/medgen/1373386" ref="tree=MeSH" title="MedGen record for Purely bicuspid aortic valve">Purely bicuspid aortic valve</a></span></li><li><span class="TLline"><a href="/medgen/1385423" ref="tree=MeSH" title="MedGen record for Single raphe bicuspid aortic valve">Single raphe bicuspid aortic valve</a></span></li><li><span class="TLline"><a href="/medgen/1376892" ref="tree=MeSH" title="MedGen record for Two-raphe bicuspid aortic valve">Two-raphe bicuspid aortic valve</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/576685" ref="tree=MeSH" title="MedGen record for Quadricuspid aortic valve">Quadricuspid aortic valve</a></span></li><li><span class="TLline"><a href="/medgen/1613159" ref="tree=MeSH" title="MedGen record for Thickened aortic valve cusp">Thickened aortic valve cusp</a></span></li><li><span class="TLline"><a href="/medgen/576684" ref="tree=MeSH" title="MedGen record for Unicuspid aortic valve">Unicuspid aortic valve</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/451016" ref="tree=MeSH" title="MedGen record for Aortic valve atresia">Aortic valve atresia</a></span></li><li><span class="TLline"><a href="/medgen/1619" ref="tree=MeSH" title="MedGen record for Aortic valve prolapse">Aortic valve prolapse</a></span></li><li><span class="TLline"><a href="/medgen/355656" ref="tree=MeSH" title="MedGen record for Dysplastic aortic valve">Dysplastic aortic valve</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
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|
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<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_462321"><div><strong>LEOPARD syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462321</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.">C3150971</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome with multiple lentigines (NSML) is a condition in which the cardinal features consist of lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features including widely spaced eyes and ptosis. Multiple lentigines present as dispersed flat, black-brown macules, mostly on the face, neck, and upper part of the trunk with sparing of the mucosa. In general, lentigines do not appear until age four to five years but then increase to the thousands by puberty. Some individuals with NSML do not exhibit lentigines. Approximately 85% of affected individuals have heart defects, including hypertrophic cardiomyopathy (typically appearing during infancy and sometimes progressive) and pulmonary valve stenosis. Postnatal growth restriction resulting in short stature occurs in fewer than 50% of affected persons, although most affected individuals have a height that is less than the 25th centile for age. Sensorineural hearing deficits, present in approximately 20% of affected individuals, are poorly characterized. Intellectual disability, typically mild, is observed in approximately 30% of persons with NSML.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462321">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815337"><div><strong>Cardiofaciocutaneous syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815337</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.">C3809007</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, and woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Affected individuals typically have some form of neurologic and/or cognitive delay (ranging from mild to severe). Most individuals have severe feeding issues, which can contribute to poor growth, and many require nasogastric or gastrostomy tube feeding. Many affected individuals have eye findings, including strabismus, nystagmus, refractive errors, and optic nerve hypoplasia. Seizures may be present and can be refractory to therapy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815337">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_902629"><div><strong>Heterotaxy, visceral, 7, autosomal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902629</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.">C4225217</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Visceral heterotaxy-7 (HTX7) is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by Guimier et al., 2015). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902629">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiofaciocutaneous syndrome 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902629" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 7, autosomal</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462321" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">LEOPARD syndrome 3</a></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/36829083">Calcific aortic valve disease: mechanisms, prevention and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moncla LM,
|
||
Briend M,
|
||
Bossé Y,
|
||
Mathieu P</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Cardiol</span>
|
||
2023 Aug;20(8):546-559.
|
||
Epub 2023 Feb 24
|
||
doi: 10.1038/s41569-023-00845-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36829083" target="_blank">36829083</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30971417">Heartbeat: Primary care delays in heart failure diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Otto CM</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2019 May;105(9):661-662.
|
||
doi: 10.1136/heartjnl-2019-315117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30971417" target="_blank">30971417</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30366931">Heartbeat: Improving diagnosis and management of aortic valve disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Otto CM</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2018 Nov;104(22):1807-1809.
|
||
doi: 10.1136/heartjnl-2018-314232.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30366931" target="_blank">30366931</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20aortic%20valve%20morphology)%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 (90)</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/38253300">Bicuspid aortic valve: The most frequent and not so benign congenital heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thiene G,
|
||
Rizzo S,
|
||
Basso C</span><br />
|
||
<span class="medgenPMjournal">Cardiovasc Pathol</span>
|
||
2024 May-Jun;70:107604.
|
||
Epub 2024 Jan 20
|
||
doi: 10.1016/j.carpath.2024.107604.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38253300" target="_blank">38253300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37611071">Bicuspid aortic valve: long-term morbidity and mortality.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang LT,
|
||
Ye Z,
|
||
Wajih Ullah M,
|
||
Maleszewski JJ,
|
||
Scott CG,
|
||
Padang R,
|
||
Pislaru SV,
|
||
Nkomo VT,
|
||
Mankad SV,
|
||
Pellikka PA,
|
||
Oh JK,
|
||
Roger VL,
|
||
Enriquez-Sarano M,
|
||
Michelena HI</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2023 Nov 14;44(43):4549-4562.
|
||
doi: 10.1093/eurheartj/ehad477.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37611071" target="_blank">37611071</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37495282">Mechanisms of Aortic Dilation in Patients With Bicuspid Aortic Valve: JACC State-of-the-Art Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodríguez-Palomares JF,
|
||
Dux-Santoy L,
|
||
Guala A,
|
||
Galian-Gay L,
|
||
Evangelista A</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2023 Aug 1;82(5):448-464.
|
||
doi: 10.1016/j.jacc.2022.10.042.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37495282" target="_blank">37495282</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35726019">Transcatheter aortic valve implantation in patients with bicuspid valve morphology: a roadmap towards standardization.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xiong TY,
|
||
Ali WB,
|
||
Feng Y,
|
||
Hayashida K,
|
||
Jilaihawi H,
|
||
Latib A,
|
||
Lee MK,
|
||
Leon MB,
|
||
Makkar RR,
|
||
Modine T,
|
||
Naber C,
|
||
Peng Y,
|
||
Piazza N,
|
||
Reardon MJ,
|
||
Redwood S,
|
||
Seth A,
|
||
Sondergaard L,
|
||
Tay E,
|
||
Tchetche D,
|
||
Yin WH,
|
||
Chen M,
|
||
Prendergast B,
|
||
Mylotte D</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Cardiol</span>
|
||
2023 Jan;20(1):52-67.
|
||
Epub 2022 Jun 20
|
||
doi: 10.1038/s41569-022-00734-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35726019" target="_blank">35726019</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32599026">Genetics in bicuspid aortic valve disease: Where are we?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bravo-Jaimes K,
|
||
Prakash SK</span><br />
|
||
<span class="medgenPMjournal">Prog Cardiovasc Dis</span>
|
||
2020 Jul-Aug;63(4):398-406.
|
||
Epub 2020 Jun 27
|
||
doi: 10.1016/j.pcad.2020.06.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32599026" target="_blank">32599026</a><a href="/pmc/articles/PMC7530017" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20aortic%20valve%20morphology%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 (2453)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37611071">Bicuspid aortic valve: long-term morbidity and mortality.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang LT,
|
||
Ye Z,
|
||
Wajih Ullah M,
|
||
Maleszewski JJ,
|
||
Scott CG,
|
||
Padang R,
|
||
Pislaru SV,
|
||
Nkomo VT,
|
||
Mankad SV,
|
||
Pellikka PA,
|
||
Oh JK,
|
||
Roger VL,
|
||
Enriquez-Sarano M,
|
||
Michelena HI</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2023 Nov 14;44(43):4549-4562.
|
||
doi: 10.1093/eurheartj/ehad477.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37611071" target="_blank">37611071</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34304896">International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Michelena HI,
|
||
Della Corte A,
|
||
Evangelista A,
|
||
Maleszewski JJ,
|
||
Edwards WD,
|
||
Roman MJ,
|
||
Devereux RB,
|
||
Fernández B,
|
||
Asch FM,
|
||
Barker AJ,
|
||
Sierra-Galan LM,
|
||
De Kerchove L,
|
||
Fernandes SM,
|
||
Fedak PWM,
|
||
Girdauskas E,
|
||
Delgado V,
|
||
Abbara S,
|
||
Lansac E,
|
||
Prakash SK,
|
||
Bissell MM,
|
||
Popescu BA,
|
||
Hope MD,
|
||
Sitges M,
|
||
Thourani VH,
|
||
Pibarot P,
|
||
Chandrasekaran K,
|
||
Lancellotti P,
|
||
Borger MA,
|
||
Forrest JK,
|
||
Webb J,
|
||
Milewicz DM,
|
||
Makkar R,
|
||
Leon MB,
|
||
Sanders SP,
|
||
Markl M,
|
||
Ferrari VA,
|
||
Roberts WC,
|
||
Song JK,
|
||
Blanke P,
|
||
White CS,
|
||
Siu S,
|
||
Svensson LG,
|
||
Braverman AC,
|
||
Bavaria J,
|
||
Sundt TM,
|
||
El Khoury G,
|
||
De Paulis R,
|
||
Enriquez-Sarano M,
|
||
Bax JJ,
|
||
Otto CM,
|
||
Schäfers HJ</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
2021 Sep;162(3):e383-e414.
|
||
Epub 2021 Jul 22
|
||
doi: 10.1016/j.jtcvs.2021.06.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34304896" target="_blank">34304896</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32599026">Genetics in bicuspid aortic valve disease: Where are we?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bravo-Jaimes K,
|
||
Prakash SK</span><br />
|
||
<span class="medgenPMjournal">Prog Cardiovasc Dis</span>
|
||
2020 Jul-Aug;63(4):398-406.
|
||
Epub 2020 Jun 27
|
||
doi: 10.1016/j.pcad.2020.06.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32599026" target="_blank">32599026</a><a href="/pmc/articles/PMC7530017" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25242035">Hurricane aorta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manka R,
|
||
Binter C,
|
||
Kozerke S</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2014 Dec 13;384(9960):2141.
|
||
Epub 2014 Sep 18
|
||
doi: 10.1016/S0140-6736(14)60752-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25242035" target="_blank">25242035</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16642647">Bicuspid aortic valve.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Williams DS</span><br />
|
||
<span class="medgenPMjournal">J Insur Med</span>
|
||
2006;38(1):72-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16642647" target="_blank">16642647</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20aortic%20valve%20morphology%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 (2487)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38747246">Transcatheter aortic valve implantation in low-risk tricuspid or bicuspid aortic stenosis: the NOTION-2 trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jørgensen TH,
|
||
Thyregod HGH,
|
||
Savontaus M,
|
||
Willemen Y,
|
||
Bleie Ø,
|
||
Tang M,
|
||
Niemela M,
|
||
Angerås O,
|
||
Gudmundsdóttir IJ,
|
||
Sartipy U,
|
||
Dagnegaard H,
|
||
Laine M,
|
||
Rück A,
|
||
Piuhola J,
|
||
Petursson P,
|
||
Christiansen EH,
|
||
Malmberg M,
|
||
Olsen PS,
|
||
Haaverstad R,
|
||
Sondergaard L,
|
||
De Backer O;
|
||
NOTION-2 investigators</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2024 Oct 5;45(37):3804-3814.
|
||
doi: 10.1093/eurheartj/ehae331.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38747246" target="_blank">38747246</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35726019">Transcatheter aortic valve implantation in patients with bicuspid valve morphology: a roadmap towards standardization.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xiong TY,
|
||
Ali WB,
|
||
Feng Y,
|
||
Hayashida K,
|
||
Jilaihawi H,
|
||
Latib A,
|
||
Lee MK,
|
||
Leon MB,
|
||
Makkar RR,
|
||
Modine T,
|
||
Naber C,
|
||
Peng Y,
|
||
Piazza N,
|
||
Reardon MJ,
|
||
Redwood S,
|
||
Seth A,
|
||
Sondergaard L,
|
||
Tay E,
|
||
Tchetche D,
|
||
Yin WH,
|
||
Chen M,
|
||
Prendergast B,
|
||
Mylotte D</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Cardiol</span>
|
||
2023 Jan;20(1):52-67.
|
||
Epub 2022 Jun 20
|
||
doi: 10.1038/s41569-022-00734-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35726019" target="_blank">35726019</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32684392">Discussion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McKellar SH</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
2022 Jan;163(1):61-63.
|
||
Epub 2020 Jul 16
|
||
doi: 10.1016/j.jtcvs.2020.02.148.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32684392" target="_blank">32684392</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30366931">Heartbeat: Improving diagnosis and management of aortic valve disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Otto CM</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2018 Nov;104(22):1807-1809.
|
||
doi: 10.1136/heartjnl-2018-314232.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30366931" target="_blank">30366931</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27188578">Calcific aortic stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lindman BR,
|
||
Clavel MA,
|
||
Mathieu P,
|
||
Iung B,
|
||
Lancellotti P,
|
||
Otto CM,
|
||
Pibarot P</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2016 Mar 3;2:16006.
|
||
doi: 10.1038/nrdp.2016.6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27188578" target="_blank">27188578</a><a href="/pmc/articles/PMC5127286" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20aortic%20valve%20morphology%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 (770)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38253300">Bicuspid aortic valve: The most frequent and not so benign congenital heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thiene G,
|
||
Rizzo S,
|
||
Basso C</span><br />
|
||
<span class="medgenPMjournal">Cardiovasc Pathol</span>
|
||
2024 May-Jun;70:107604.
|
||
Epub 2024 Jan 20
|
||
doi: 10.1016/j.carpath.2024.107604.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38253300" target="_blank">38253300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32380025">State-of-the art bicuspid aortic valve repair in 2020.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ehrlich T,
|
||
de Kerchove L,
|
||
Vojacek J,
|
||
Boodhwani M,
|
||
El-Hamamsy I,
|
||
De Paulis R,
|
||
Lansac E,
|
||
Bavaria JE,
|
||
El Khoury G,
|
||
Schäfers HJ</span><br />
|
||
<span class="medgenPMjournal">Prog Cardiovasc Dis</span>
|
||
2020 Jul-Aug;63(4):457-464.
|
||
Epub 2020 May 5
|
||
doi: 10.1016/j.pcad.2020.04.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32380025" target="_blank">32380025</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26634032">Quadricuspid Aortic Valve.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schutt RC,
|
||
Maragiannis D,
|
||
Shah G</span><br />
|
||
<span class="medgenPMjournal">Methodist Debakey Cardiovasc J</span>
|
||
2015 Jul-Sep;11(3):196.
|
||
doi: 10.14797/mdcj-11-3-196.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26634032" target="_blank">26634032</a><a href="/pmc/articles/PMC4666431" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22736692">Quadricuspid aortic valve.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hanratty D,
|
||
Farode O,
|
||
Ionescu A,
|
||
Youhana A</span><br />
|
||
<span class="medgenPMjournal">Eur J Cardiothorac Surg</span>
|
||
2012 Sep;42(3):597.
|
||
Epub 2012 Jun 26
|
||
doi: 10.1093/ejcts/ezs182.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22736692" target="_blank">22736692</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=%22Abnormal%20aortic%20valve%20morphology%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 (1657)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38253300">Bicuspid aortic valve: The most frequent and not so benign congenital heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thiene G,
|
||
Rizzo S,
|
||
Basso C</span><br />
|
||
<span class="medgenPMjournal">Cardiovasc Pathol</span>
|
||
2024 May-Jun;70:107604.
|
||
Epub 2024 Jan 20
|
||
doi: 10.1016/j.carpath.2024.107604.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38253300" target="_blank">38253300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37611071">Bicuspid aortic valve: long-term morbidity and mortality.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang LT,
|
||
Ye Z,
|
||
Wajih Ullah M,
|
||
Maleszewski JJ,
|
||
Scott CG,
|
||
Padang R,
|
||
Pislaru SV,
|
||
Nkomo VT,
|
||
Mankad SV,
|
||
Pellikka PA,
|
||
Oh JK,
|
||
Roger VL,
|
||
Enriquez-Sarano M,
|
||
Michelena HI</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2023 Nov 14;44(43):4549-4562.
|
||
doi: 10.1093/eurheartj/ehad477.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37611071" target="_blank">37611071</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35726019">Transcatheter aortic valve implantation in patients with bicuspid valve morphology: a roadmap towards standardization.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xiong TY,
|
||
Ali WB,
|
||
Feng Y,
|
||
Hayashida K,
|
||
Jilaihawi H,
|
||
Latib A,
|
||
Lee MK,
|
||
Leon MB,
|
||
Makkar RR,
|
||
Modine T,
|
||
Naber C,
|
||
Peng Y,
|
||
Piazza N,
|
||
Reardon MJ,
|
||
Redwood S,
|
||
Seth A,
|
||
Sondergaard L,
|
||
Tay E,
|
||
Tchetche D,
|
||
Yin WH,
|
||
Chen M,
|
||
Prendergast B,
|
||
Mylotte D</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Cardiol</span>
|
||
2023 Jan;20(1):52-67.
|
||
Epub 2022 Jun 20
|
||
doi: 10.1038/s41569-022-00734-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35726019" target="_blank">35726019</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32380025">State-of-the art bicuspid aortic valve repair in 2020.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ehrlich T,
|
||
de Kerchove L,
|
||
Vojacek J,
|
||
Boodhwani M,
|
||
El-Hamamsy I,
|
||
De Paulis R,
|
||
Lansac E,
|
||
Bavaria JE,
|
||
El Khoury G,
|
||
Schäfers HJ</span><br />
|
||
<span class="medgenPMjournal">Prog Cardiovasc Dis</span>
|
||
2020 Jul-Aug;63(4):457-464.
|
||
Epub 2020 May 5
|
||
doi: 10.1016/j.pcad.2020.04.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32380025" target="_blank">32380025</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30366931">Heartbeat: Improving diagnosis and management of aortic valve disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Otto CM</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2018 Nov;104(22):1807-1809.
|
||
doi: 10.1136/heartjnl-2018-314232.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30366931" target="_blank">30366931</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20aortic%20valve%20morphology%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 (1271)</a></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/30391499">Aortic Valve Interventions in Pediatric Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouhout I,
|
||
Ba PS,
|
||
El-Hamamsy I,
|
||
Poirier N</span><br />
|
||
<span class="medgenPMjournal">Semin Thorac Cardiovasc Surg</span>
|
||
2019 Summer;31(2):277-287.
|
||
Epub 2018 Nov 2
|
||
doi: 10.1053/j.semtcvs.2018.10.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30391499" target="_blank">30391499</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30239633">Haemodynamic assessment of bicuspid aortic valve aortopathy: a systematic review of the current literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Edlin J,
|
||
Youssefi P,
|
||
Bilkhu R,
|
||
Figueroa CA,
|
||
Morgan R,
|
||
Nowell J,
|
||
Jahangiri M</span><br />
|
||
<span class="medgenPMjournal">Eur J Cardiothorac Surg</span>
|
||
2019 Apr 1;55(4):610-617.
|
||
doi: 10.1093/ejcts/ezy312.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30239633" target="_blank">30239633</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29399873">Bicuspid aortic valve morphology and its impact on aortic diameters-A systematic review with meta-analysis and meta-regression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miśkowiec D,
|
||
Lipiec P,
|
||
Szymczyk E,
|
||
Wejner-Mik P,
|
||
Michalski B,
|
||
Kupczyńska K,
|
||
Wierzbowska-Drabik K,
|
||
Kasprzak JD</span><br />
|
||
<span class="medgenPMjournal">Echocardiography</span>
|
||
2018 May;35(5):667-677.
|
||
Epub 2018 Feb 4
|
||
doi: 10.1111/echo.13818.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29399873" target="_blank">29399873</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28490615">Contemporary natural history of bicuspid aortic valve disease: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Masri A,
|
||
Svensson LG,
|
||
Griffin BP,
|
||
Desai MY</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2017 Sep;103(17):1323-1330.
|
||
Epub 2017 May 10
|
||
doi: 10.1136/heartjnl-2016-309916.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28490615" target="_blank">28490615</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23728086">Bicuspid aortic valve aortopathy: genetics, pathophysiology and medical therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abdulkareem N,
|
||
Smelt J,
|
||
Jahangiri M</span><br />
|
||
<span class="medgenPMjournal">Interact Cardiovasc Thorac Surg</span>
|
||
2013 Sep;17(3):554-9.
|
||
Epub 2013 May 31
|
||
doi: 10.1093/icvts/ivt196.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23728086" target="_blank">23728086</a><a href="/pmc/articles/PMC3745132" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20aortic%20valve%20morphology%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 (26)</a></div></div>
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
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<a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p>
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<a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br />
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<a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p>
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<a class="text-white" href="https://www.nih.gov/">NIH</a>
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