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<!--
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||
UID=75585
|
||
ConceptID=C0265910
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Pulmonary artery hypoplasia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75585</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.">C0265910</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Congenital hypoplasia of pulmonary artery; PAH; pulmonary artery hypoplasia; pulmonary artery hypoplasia (disease); Underdeveloped lung artery; Underdeveloped pulmonary artery; Unilateral Pulmonary Artery Hypoplasia</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Pulmonary artery hypoplasia (54682008); Congenital hypoplasia of pulmonary artery (54682008)</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:0004971">HP:0004971</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0020419" target="_blank">MONDO:0020419</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=99083">ORPHA99083</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">Underdevelopment of the pulmonary artery. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</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>
|
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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 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">Pulmonary artery hypoplasia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/927608" ref="tree=MeSH" title="MedGen record for Abnormal vascular morphology">Abnormal vascular morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1778737" ref="tree=MeSH" title="MedGen record for Abnormal blood vessel morphology">Abnormal blood vessel morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1375454" ref="tree=MeSH" title="MedGen record for Abnormal morphology of the great vessels">Abnormal morphology of the great vessels</a></span><ul><li><span class="TLline"><a href="/medgen/1379288" ref="tree=MeSH" title="MedGen record for Abnormal pulmonary artery morphology">Abnormal pulmonary artery morphology</a></span><ul><li><span class="matched_ds">Pulmonary artery hypoplasia</span></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_371831"><div><strong>Dilated cardiomyopathy 1S</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371831</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.">C1834481</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/371831">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_383722"><div><strong>Keutel syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383722</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.">C1855607</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Keutel syndrome (KTLS) is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, and abnormal cartilage ossification or calcification (summary by Khosroshahi et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383722">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_907155"><div><strong>Seckel syndrome 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>907155</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.">C4225212</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Seckel syndrome-9 (SCKL9) is an autosomal recessive disorder characterized by prenatal-onset global growth failure, microcephaly, craniofacial dysmorphism, and recurrent infections without evidence of immunodeficiency (Harley et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/907155">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="divPopper rprt" id="rdis_897005"><div><strong>Ritscher-Schinzel syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>897005</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.">C4225419</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ritscher-Schinzel syndrome (RSS) is a clinically recognizable condition that includes the cardinal findings of craniofacial features, cerebellar defects, and cardiovascular malformations resulting in the alternate diagnostic name of 3C syndrome. Dysmorphic facial features may include brachycephaly, hypotonic face with protruding tongue, flat appearance of the face on profile view, short midface, widely spaced eyes, downslanted palpebral fissures, low-set ears with overfolding of the upper helix, smooth or short philtrum, and high or cleft palate. Affected individuals also typically have a characteristic metacarpal phalangeal profile showing a consistent wavy pattern on hand radiographs. RSS is associated with variable degrees of developmental delay and intellectual disability. Eye anomalies and hypercholesterolemia may be variably present.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/897005">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823983"><div><strong>Diaphragmatic hernia 4, with cardiovascular defects</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823983</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.">C5774210</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diaphragmatic hernia-4 with cardiovascular defects (DIH4) is an autosomal recessive congenital anomaly syndrome characterized by the presence of diaphragmatic hernia or eventration apparent at birth. Affected infants have associated pulmonary hypoplasia and respiratory insufficiency resulting in death in infancy. Most also have variable cardiovascular defects, including aortopulmonary window or conotruncal anomalies. Dysmorphic facial features and mild distal limb anomalies are sometimes observed (Beecroft et al., 2021). For a discussion of genetic heterogeneity of congenital diaphragmatic hernia (CDH), see DIH1 (142340).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823983">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823983" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diaphragmatic hernia 4, with cardiovascular defects</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371831" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dilated cardiomyopathy 1S</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_383722" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Keutel syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_897005" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ritscher-Schinzel syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_907155" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seckel syndrome 9</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/38036449">Congenital Bilateral Branch Pulmonary Artery Hypoplasia: Prenatal Diagnosis and Parental Counseling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Habib PA,
|
||
Bae S,
|
||
Turan S,
|
||
Sundararajan S</span><br />
|
||
<span class="medgenPMjournal">Neoreviews</span>
|
||
2023 Dec 1;24(12):e829-e835.
|
||
doi: 10.1542/neo.24-12-e829.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38036449" target="_blank">38036449</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18491172">Stent implantation and balloon angioplasty for treatment of branch pulmonary artery stenosis in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baerlocher L,
|
||
Kretschmar O,
|
||
Harpes P,
|
||
Arbenz U,
|
||
Berger F,
|
||
Knirsch W</span><br />
|
||
<span class="medgenPMjournal">Clin Res Cardiol</span>
|
||
2008 May;97(5):310-7.
|
||
Epub 2007 Dec 28
|
||
doi: 10.1007/s00392-007-0631-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18491172" target="_blank">18491172</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22pulmonary%20artery%20hypoplasia%22%5Btiab%3A~0%5D)%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 (2)</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/37558375">Pulmonary Artery Hypoplasia in Neonates With Tetralogy of Fallot.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petit CJ,
|
||
Glatz AC,
|
||
Goldstone AB,
|
||
Law MA,
|
||
Romano JC,
|
||
Maskatia SA,
|
||
Chai PJ,
|
||
Zampi JD,
|
||
Meadows JJ,
|
||
Nicholson GT,
|
||
Shahanavaz S,
|
||
Qureshi AM,
|
||
McCracken CE,
|
||
Mascio CE,
|
||
Batlivala SP,
|
||
Asztalos IB,
|
||
Healan SJ,
|
||
Smith JD,
|
||
Pettus JA,
|
||
Beshish A,
|
||
Raulston JEB,
|
||
Hock KM,
|
||
Pajk AL,
|
||
Goldstein BH</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2023 Aug 15;82(7):615-627.
|
||
doi: 10.1016/j.jacc.2023.05.051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37558375" target="_blank">37558375</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35640132">Patch enlargement may not be a good strategy for treating tetralogy of Fallot with unbalanced pulmonary artery branches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gao B,
|
||
Zhu Z</span><br />
|
||
<span class="medgenPMjournal">Eur J Cardiothorac Surg</span>
|
||
2022 Jun 15;62(1)
|
||
doi: 10.1093/ejcts/ezac326.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35640132" target="_blank">35640132</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25534528">Neonatal pulmonary artery reconstruction during shunting to treat and prevent juxtaductal coarctation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brink J,
|
||
MacIver R,
|
||
Lee MG,
|
||
Konstantinov IE,
|
||
Cheung M,
|
||
Brizard CP,
|
||
d'Udekem Y</span><br />
|
||
<span class="medgenPMjournal">Ann Thorac Surg</span>
|
||
2015 Feb;99(2):641-7.
|
||
Epub 2014 Dec 20
|
||
doi: 10.1016/j.athoracsur.2014.09.034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25534528" target="_blank">25534528</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18491172">Stent implantation and balloon angioplasty for treatment of branch pulmonary artery stenosis in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baerlocher L,
|
||
Kretschmar O,
|
||
Harpes P,
|
||
Arbenz U,
|
||
Berger F,
|
||
Knirsch W</span><br />
|
||
<span class="medgenPMjournal">Clin Res Cardiol</span>
|
||
2008 May;97(5):310-7.
|
||
Epub 2007 Dec 28
|
||
doi: 10.1007/s00392-007-0631-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18491172" target="_blank">18491172</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12420920">Alagille syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shendge H,
|
||
Tullu MS,
|
||
Shenoy A,
|
||
Chaturvedi R,
|
||
Kamat JR,
|
||
Khare M,
|
||
Joshi A</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2002 Sep;69(9):825-7.
|
||
doi: 10.1007/BF02723701.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12420920" target="_blank">12420920</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pulmonary%20artery%20hypoplasia%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 (31)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38036449">Congenital Bilateral Branch Pulmonary Artery Hypoplasia: Prenatal Diagnosis and Parental Counseling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Habib PA,
|
||
Bae S,
|
||
Turan S,
|
||
Sundararajan S</span><br />
|
||
<span class="medgenPMjournal">Neoreviews</span>
|
||
2023 Dec 1;24(12):e829-e835.
|
||
doi: 10.1542/neo.24-12-e829.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38036449" target="_blank">38036449</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32774591">Isolated left pulmonary artery hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Touil I,
|
||
Boudawara NK,
|
||
Bouchareb S,
|
||
Knani J,
|
||
Boussoffara L</span><br />
|
||
<span class="medgenPMjournal">Pan Afr Med J</span>
|
||
2020;36:14.
|
||
Epub 2020 May 12
|
||
doi: 10.11604/pamj.2020.36.14.22539.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32774591" target="_blank">32774591</a><a href="/pmc/articles/PMC7388597" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30720842">Laron syndrome related to homozygous growth hormone receptor c.784>C mutation in a patient with hypoplastic pulmonary arteries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akinci A,
|
||
Karakurt C,
|
||
Hwa V,
|
||
Dündar I,
|
||
Çamtosun E</span><br />
|
||
<span class="medgenPMjournal">Cardiovasc J Afr</span>
|
||
2019 Mar/Apr 23;30(2):e7-e8.
|
||
Epub 2019 Jan 22
|
||
doi: 10.5830/CVJA-2019-002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30720842" target="_blank">30720842</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12420920">Alagille syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shendge H,
|
||
Tullu MS,
|
||
Shenoy A,
|
||
Chaturvedi R,
|
||
Kamat JR,
|
||
Khare M,
|
||
Joshi A</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2002 Sep;69(9):825-7.
|
||
doi: 10.1007/BF02723701.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12420920" target="_blank">12420920</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1412384">Congenital absence of the left pericardium in combination with left pulmonary artery hypoplasia, right aortic arch, and secundum atrial septal defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lonský V,
|
||
Stĕtina M,
|
||
Habal P,
|
||
Marková D</span><br />
|
||
<span class="medgenPMjournal">Thorac Cardiovasc Surg</span>
|
||
1992 Jun;40(3):155-7.
|
||
doi: 10.1055/s-2007-1020136.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1412384" target="_blank">1412384</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pulmonary%20artery%20hypoplasia%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 (35)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23984730">Use of oral fluconazole during pregnancy and the risk of birth defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mølgaard-Nielsen D,
|
||
Pasternak B,
|
||
Hviid A</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2013 Aug 29;369(9):830-9.
|
||
doi: 10.1056/NEJMoa1301066.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23984730" target="_blank">23984730</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20621311">Impact of evolving strategy on clinical outcomes and central pulmonary artery growth in patients with bilateral superior vena cava undergoing a bilateral bidirectional cavopulmonary shunt.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Honjo O,
|
||
Tran KC,
|
||
Hua Z,
|
||
Sapra P,
|
||
Alghamdi AA,
|
||
Russell JL,
|
||
Caldarone CA,
|
||
Van Arsdell GS</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
2010 Sep;140(3):522-8, 528.e1.
|
||
doi: 10.1016/j.jtcvs.2010.04.036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20621311" target="_blank">20621311</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17059834">Simultaneous enlargement of the pulmonary annulus and the pulmonary cusp with autologous pericardium in right ventricular outflow tract reconstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu XG,
|
||
Wu KH,
|
||
Li XF,
|
||
Shi C,
|
||
Wang ZY,
|
||
Tang Z,
|
||
Shi XQ,
|
||
Liu YL</span><br />
|
||
<span class="medgenPMjournal">J Surg Res</span>
|
||
2006 Dec;136(2):320-4.
|
||
Epub 2006 Oct 23
|
||
doi: 10.1016/j.jss.2006.08.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17059834" target="_blank">17059834</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14689417">Anesthetic management for a hypertensive patent ductus arteriosus (PDA) closure in a patient with surgically uncorrectable long-segment right pulmonary artery hypoplasia and a ventricular septal defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neema PK,
|
||
Unnikrishnan M,
|
||
Sinha PK,
|
||
Rathod RC</span><br />
|
||
<span class="medgenPMjournal">J Cardiothorac Vasc Anesth</span>
|
||
2003 Dec;17(6):740-3.
|
||
doi: 10.1053/j.jvca.2003.09.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14689417" target="_blank">14689417</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12544884">Improved results after heart-lung transplantation: a 17-year experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reichart B,
|
||
Gulbins H,
|
||
Meiser BM,
|
||
Kur F,
|
||
Briegel J,
|
||
Reichenspurner H</span><br />
|
||
<span class="medgenPMjournal">Transplantation</span>
|
||
2003 Jan 15;75(1):127-32.
|
||
doi: 10.1097/00007890-200301150-00023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12544884" target="_blank">12544884</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pulmonary%20artery%20hypoplasia%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 (9)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36039782">Coexistence of transposition of the great arteries, coarctation of the aorta, and bilateral pulmonary artery hypoplasia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kavgacı A,
|
||
Terlemez S,
|
||
Tunç O,
|
||
Kula S</span><br />
|
||
<span class="medgenPMjournal">Cardiol Young</span>
|
||
2023 May;33(5):819-821.
|
||
Epub 2022 Aug 30
|
||
doi: 10.1017/S1047951122002803.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36039782" target="_blank">36039782</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29054305">Scimitar Syndrome in Children and Adults: Natural History, Outcomes, and Risk Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang H,
|
||
Kalfa D,
|
||
Rosenbaum MS,
|
||
Ginns JN,
|
||
Lewis MJ,
|
||
Glickstein JS,
|
||
Bacha EA,
|
||
Chai PJ</span><br />
|
||
<span class="medgenPMjournal">Ann Thorac Surg</span>
|
||
2018 Feb;105(2):592-598.
|
||
Epub 2017 Oct 18
|
||
doi: 10.1016/j.athoracsur.2017.06.061.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29054305" target="_blank">29054305</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18491172">Stent implantation and balloon angioplasty for treatment of branch pulmonary artery stenosis in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baerlocher L,
|
||
Kretschmar O,
|
||
Harpes P,
|
||
Arbenz U,
|
||
Berger F,
|
||
Knirsch W</span><br />
|
||
<span class="medgenPMjournal">Clin Res Cardiol</span>
|
||
2008 May;97(5):310-7.
|
||
Epub 2007 Dec 28
|
||
doi: 10.1007/s00392-007-0631-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18491172" target="_blank">18491172</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17059834">Simultaneous enlargement of the pulmonary annulus and the pulmonary cusp with autologous pericardium in right ventricular outflow tract reconstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu XG,
|
||
Wu KH,
|
||
Li XF,
|
||
Shi C,
|
||
Wang ZY,
|
||
Tang Z,
|
||
Shi XQ,
|
||
Liu YL</span><br />
|
||
<span class="medgenPMjournal">J Surg Res</span>
|
||
2006 Dec;136(2):320-4.
|
||
Epub 2006 Oct 23
|
||
doi: 10.1016/j.jss.2006.08.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17059834" target="_blank">17059834</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12420920">Alagille syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shendge H,
|
||
Tullu MS,
|
||
Shenoy A,
|
||
Chaturvedi R,
|
||
Kamat JR,
|
||
Khare M,
|
||
Joshi A</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2002 Sep;69(9):825-7.
|
||
doi: 10.1007/BF02723701.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12420920" target="_blank">12420920</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pulmonary%20artery%20hypoplasia%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 (19)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38634941">Clinical characteristics, imaging findings, management, and outcomes of patients with scimitar syndrome at a tertiary referral healthcare center in Colombia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aristizabal AM,
|
||
Guzmán-Serrano CA,
|
||
Mondol-Villamil NV,
|
||
Bolaños-Vallejo LM,
|
||
Mejia-Quiñones V,
|
||
Recio-Gómez MA,
|
||
García-Pretelt EC,
|
||
Mejía-González M,
|
||
Alvarez WM,
|
||
Gutiérrez-Gil JA</span><br />
|
||
<span class="medgenPMjournal">Int J Cardiovasc Imaging</span>
|
||
2024 Jun;40(6):1319-1328.
|
||
Epub 2024 Apr 18
|
||
doi: 10.1007/s10554-024-03102-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38634941" target="_blank">38634941</a><a href="/pmc/articles/PMC11213797" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37558375">Pulmonary Artery Hypoplasia in Neonates With Tetralogy of Fallot.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petit CJ,
|
||
Glatz AC,
|
||
Goldstone AB,
|
||
Law MA,
|
||
Romano JC,
|
||
Maskatia SA,
|
||
Chai PJ,
|
||
Zampi JD,
|
||
Meadows JJ,
|
||
Nicholson GT,
|
||
Shahanavaz S,
|
||
Qureshi AM,
|
||
McCracken CE,
|
||
Mascio CE,
|
||
Batlivala SP,
|
||
Asztalos IB,
|
||
Healan SJ,
|
||
Smith JD,
|
||
Pettus JA,
|
||
Beshish A,
|
||
Raulston JEB,
|
||
Hock KM,
|
||
Pajk AL,
|
||
Goldstein BH</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2023 Aug 15;82(7):615-627.
|
||
doi: 10.1016/j.jacc.2023.05.051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37558375" target="_blank">37558375</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30720842">Laron syndrome related to homozygous growth hormone receptor c.784>C mutation in a patient with hypoplastic pulmonary arteries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akinci A,
|
||
Karakurt C,
|
||
Hwa V,
|
||
Dündar I,
|
||
Çamtosun E</span><br />
|
||
<span class="medgenPMjournal">Cardiovasc J Afr</span>
|
||
2019 Mar/Apr 23;30(2):e7-e8.
|
||
Epub 2019 Jan 22
|
||
doi: 10.5830/CVJA-2019-002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30720842" target="_blank">30720842</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23984730">Use of oral fluconazole during pregnancy and the risk of birth defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mølgaard-Nielsen D,
|
||
Pasternak B,
|
||
Hviid A</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2013 Aug 29;369(9):830-9.
|
||
doi: 10.1056/NEJMoa1301066.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23984730" target="_blank">23984730</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7860923">In utero pulmonary artery and aortic growth and potential for progression of pulmonary outflow tract obstruction in tetralogy of Fallot.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hornberger LK,
|
||
Sanders SP,
|
||
Sahn DJ,
|
||
Rice MJ,
|
||
Spevak PJ,
|
||
Benacerraf BR,
|
||
McDonald RW,
|
||
Colan SD</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
1995 Mar 1;25(3):739-45.
|
||
doi: 10.1016/0735-1097(94)00422-M.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7860923" target="_blank">7860923</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pulmonary%20artery%20hypoplasia%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 (13)</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 class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=99083" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Pulmonary%20artery%20hypoplasia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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|
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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=(%22pulmonary%20artery%20hypoplasia%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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|
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<a href="/pubmed/clinical?term=Pulmonary%20artery%20hypoplasia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d683da84f3725e5986be58">Pulmonary artery hypoplasia</a>
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<div class="ralinkpop offscreen_noflow">Pulmonary artery hypoplasia<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d683b184f3725e5986163d">C1867005[conceptid] <span class="number">(1)</span></a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d683a667c23b31e00d45cf">DES desmin [Homo sapiens]</a>
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<div class="ralinkpop offscreen_noflow">DES desmin [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:1674</div></div>
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<div class="tertiary">Gene</div>
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