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1086 lines
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<!--
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||
UID=52867
|
||
ConceptID=C0041207
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Persistent truncus arteriosus<span class="h1sub">(PTA)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52867</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.">C0041207</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Truncus arteriosus; Truncus arteriosus communis</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Common truncus arteriosus (61959006); Persistent truncus arteriosus (61959006); Common aortopulmonary trunk (61959006); Truncus arteriosus communis (61959006); Common arterial trunk (truncus arteriosus) (61959006); Persistent truncus arteriosus (787779000)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></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:0001660">HP:0001660</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018072" target="_blank">MONDO:0018072</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/217095" target="_blank">217095</a>; <a href="https://omim.org/entry/600584" target="_blank">600584</a>; <a href="https://omim.org/entry/601656" target="_blank">601656</a>; <a href="https://omim.org/entry/611770" target="_blank">611770</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=3384">ORPHA3384</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<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">A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
|
||
|
||
<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></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=C0041207[DISCUI]&test_type=Clinical" ref="ncbi_uid=52867">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=52867" target="_blank" href="/omim/217095">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=52867" ref="ncbi_uid=52867">V</a></span></span><span class="TLline">Persistent truncus arteriosus</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/852566" ref="tree=MeSH" title="MedGen record for Congenital malformation of the great arteries">Congenital malformation of the great arteries</a></span><ul><li><span class="TLline"><a href="/medgen/365" ref="tree=MeSH" title="MedGen record for Aortopulmonary window">Aortopulmonary window</a></span><ul><li><span class="matched_ds">Persistent truncus arteriosus</span><ul><li><span class="TLline"><a href="/medgen/322536" ref="tree=MeSH" title="MedGen record for Type I truncus arteriosus">Type I truncus arteriosus</a></span></li><li><span class="TLline"><a href="/medgen/866786" ref="tree=MeSH" title="MedGen record for Type II truncus arteriosus">Type II truncus arteriosus</a></span></li><li><span class="TLline"><a href="/medgen/866785" ref="tree=MeSH" title="MedGen record for Type III truncus arteriosus">Type III truncus arteriosus</a></span></li><li><span class="TLline"><a href="/medgen/866784" ref="tree=MeSH" title="MedGen record for Type IV truncus arteriosus">Type IV truncus arteriosus</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<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_4297"><div><strong>DiGeorge syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4297</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.">C0012236</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4297">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120523"><div><strong>Femoral hypoplasia - unusual facies syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120523</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.">C0265263</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome (FHUFS), is a rare and sporadic multiple congenital anomaly syndrome comprising bilateral femoral hypoplasia and characteristic facial features, such as long philtrum, thin upper lip, micrognathia with or without cleft palate, upward-slanting palpebral fissures, and a short nose with broad tip. Other features, such as renal anomalies, are more variable (summary by Nowaczyk et al., 2010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120523">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_96563"><div><strong>Gillespie syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96563</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.">C0431401</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gillespie syndrome (GLSP) is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by Gerber et al., 2016 and McEntagart et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96563">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_371329"><div><strong>Microcephaly-cardiac defect-lung malsegmentation syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371329</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.">C1832436</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/371329">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_318679"><div><strong>Matthew-Wood syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318679</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.">C1832661</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syndromic microphthalmia-9 (MCOPS9), also referred to as pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect, is characterized by bilateral clinical anophthalmia, pulmonary hypoplasia/aplasia, cardiac malformations, and diaphragmatic defects. The phenotype is variable, ranging from isolated clinical anophthalmia or microphthalmia to complex presentations involving the cardiac, pulmonary, diaphragmatic, and renal systems. At its most severe, infants are born without pulmonary structures and die soon after birth (Marcadier et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/318679">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_323030"><div><strong>Emanuel syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323030</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.">C1836929</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Emanuel syndrome is characterized by pre- and postnatal growth deficiency, microcephaly, hypotonia, severe developmental delays, ear anomalies, preauricular tags or pits, cleft or high-arched palate, congenital heart defects, kidney abnormalities, and genital abnormalities in males.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323030">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341803"><div><strong>Conotruncal heart malformations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341803</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.">C1857586</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341803">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_395171"><div><strong>Verloove Vanhorick-Brubakk syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395171</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.">C1859082</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A multiple congenital anomalies/dysmorphic syndrome with characteristics of multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligo/polysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395171">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_393913"><div><strong>Chromosome 1q21.1 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393913</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.">C2675897</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The 1q21.1 recurrent deletion itself does not lead to a clinically recognizable syndrome, as some persons with the deletion have no obvious clinical findings. Others have variable findings that most commonly include mildly dysmorphic but nonspecific facial features (>75%), mild intellectual disability or learning disabilities (25%), microcephaly (43%), and eye abnormalities (26%). Other findings can include cardiac defects, genitourinary anomalies, skeletal malformations, joint laxity, and seizures (~23%). Psychiatric and behavioral abnormalities can include autism spectrum disorder, attention-deficit/hyperactivity disorder, and sleep disturbances. Sensorineural hearing loss and recurrent infections /otitis media are rare.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393913">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_395634"><div><strong>Chromosome 22q11.2 deletion syndrome, distal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395634</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.">C2678480</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, outside the DiGeorge critical region. The phenotype is characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features present in half of the individuals include microcephaly, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities (low-set ears, tags and pits), hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions including the <i>SMARCB1</i> gene, there is a risk of developing malignant rhabdoid tumours. Most deletions are <i>de novo </i>.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395634">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_444022"><div><strong>Pancreatic hypoplasia-diabetes-congenital heart disease syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>444022</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.">C2931296</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This syndrome has characteristics of partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). It has been described in one Japanese family, in which the mother and at least two of her four children were affected (another two children died shortly after birth). The syndrome appears to be inherited as an autosomal dominant trait.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/444022">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815764"><div><strong>Renal-hepatic-pancreatic dysplasia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815764</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.">C3809434</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Renal-hepatic-pancreatic dysplasia-2 (RHPD2) is an autosomal recessive multisystemic disorder with severe abnormalities apparent in utero and often resulting in fetal death or death in infancy. The main organs affected include the kidney, liver, and pancreas, although other abnormalities, including cardiac, skeletal, and lung defects, may also be present. Affected individuals often have situs inversus. The disorder results from a defect in ciliogenesis and ciliary function, as well as in cell proliferation and epithelial morphogenesis; thus, the clinical manifestations are highly variable (summary by Grampa et al., 2016). For a discussion of genetic heterogeneity of renal-hepatic-pancreatic dysplasia, see RHPD1 (208540).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815764">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816353"><div><strong>8q24.3 microdeletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816353</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.">C3810023</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Verheij syndrome is characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities. Additional variable features may include coloboma, renal defects, and cardiac defects (summary by Verheij et al., 2009 and Dauber et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816353">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_908556"><div><strong>Adams-Oliver syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>908556</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.">C4225271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Adams-Oliver syndrome is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrent findings. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014). For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (100300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/908556">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1387412"><div><strong>Structural heart defects and renal anomalies syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1387412</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.">C4479549</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1387412">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1375936"><div><strong>Stankiewicz-Isidor syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1375936</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.">C4479599</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems (summary by Kury et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1375936">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794252"><div><strong>Congenital heart defects, multiple types, 8, with or without heterotaxy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794252</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.">C5562042</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple types of congenital heart defects-8 (CHTD8) is characterized by cardiac septal defects, double-outlet right ventricle, unbalanced complete atrioventricular canal, and valvular anomalies, as well as vascular anomalies including dextroposition of the great arteries, anomalous pulmonary venous return, and superior vena cava to left atrium defect. Patients may also exhibit laterality defects, including dextrocardia, atrial isomerism, dextrogastria, left-sided gallbladder, and intestinal malrotation (Zaidi et al., 2013; Granadillo et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794252">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841003"><div><strong>Congenital heart defects, multiple types, 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841003</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.">C5830367</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple types of congenital heart defects-9 (CHTD9) is characterized by common arterial trunk (truncus arteriosus communis) in most patients, associated with other cardiac defects, including tetralogy of Fallot, interrupted aortic arch, right aortic arch, ventricular hypoplasia, and hypoplastic left heart, as well as other vascular and valvular anomalies (Ta-Shma et al., 2013; Guimier et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of multiple types of congenital heart defects, see CHTD1 (see 306955).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841003">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1854813"><div><strong>Orofaciodigital syndrome 20</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1854813</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.">C5935578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Orofaciodigital syndrome-20 (OFD20) is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones (Bruel et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of OFD, see OFD1 (311200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1854813">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816353" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">8q24.3 microdeletion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_908556" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adams-Oliver syndrome 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_393913" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 1q21.1 deletion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395634" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 22q11.2 deletion syndrome, distal</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794252" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital heart defects, multiple types, 8, with or without heterotaxy</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (19)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841003" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital heart defects, multiple types, 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341803" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Conotruncal heart malformations</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_4297" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">DiGeorge syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_323030" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Emanuel syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120523" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Femoral hypoplasia - unusual facies syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96563" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gillespie syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_318679" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Matthew-Wood syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371329" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly-cardiac defect-lung malsegmentation syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1854813" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Orofaciodigital syndrome 20</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_444022" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancreatic hypoplasia-diabetes-congenital heart disease syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815764" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal-hepatic-pancreatic dysplasia 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1375936" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stankiewicz-Isidor syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1387412" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Structural heart defects and renal anomalies syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395171" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Verloove Vanhorick-Brubakk syndrome</a></div></span></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/21796729">Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guo T,
|
||
McDonald-McGinn D,
|
||
Blonska A,
|
||
Shanske A,
|
||
Bassett AS,
|
||
Chow E,
|
||
Bowser M,
|
||
Sheridan M,
|
||
Beemer F,
|
||
Devriendt K,
|
||
Swillen A,
|
||
Breckpot J,
|
||
Digilio MC,
|
||
Marino B,
|
||
Dallapiccola B,
|
||
Carpenter C,
|
||
Zheng X,
|
||
Johnson J,
|
||
Chung J,
|
||
Higgins AM,
|
||
Philip N,
|
||
Simon TJ,
|
||
Coleman K,
|
||
Heine-Suner D,
|
||
Rosell J,
|
||
Kates W,
|
||
Devoto M,
|
||
Goldmuntz E,
|
||
Zackai E,
|
||
Wang T,
|
||
Shprintzen R,
|
||
Emanuel B,
|
||
Morrow B;
|
||
International Chromosome 22q11.2 Consortium</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2011 Nov;32(11):1278-89.
|
||
Epub 2011 Sep 16
|
||
doi: 10.1002/humu.21568.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21796729" target="_blank">21796729</a><a href="/pmc/articles/PMC3196824" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16625498">Prenatal diagnosis of conotruncal malformations: diagnostic accuracy, outcome, chromosomal abnormalities, and extracardiac anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sivanandam S,
|
||
Glickstein JS,
|
||
Printz BF,
|
||
Allan LD,
|
||
Altmann K,
|
||
Solowiejczyk DE,
|
||
Simpson L,
|
||
Perez-Delboy A,
|
||
Kleinman CS</span><br />
|
||
<span class="medgenPMjournal">Am J Perinatol</span>
|
||
2006 May;23(4):241-5.
|
||
Epub 2006 Apr 19
|
||
doi: 10.1055/s-2006-939535.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16625498" target="_blank">16625498</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5059345">Persistent truncus arteriosus and pseudotruncus arteriosus. Angiographic criteria for corrective surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klinkhamer AC,
|
||
Verheugt AP</span><br />
|
||
<span class="medgenPMjournal">Radiol Clin Biol</span>
|
||
1972;41(1):36-46.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5059345" target="_blank">5059345</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22persistent%20truncus%20arteriosus%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 (3)</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/36084696">Contemporary Multicenter Outcomes for Truncus Arteriosus With Interrupted Aortic Arch.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buckley JR,
|
||
Costello JM,
|
||
Smerling AJ,
|
||
Sassalos P,
|
||
Amula V,
|
||
Cashen K,
|
||
Riley CM,
|
||
Bakar AM,
|
||
Iliopoulos I,
|
||
Jennings A,
|
||
Narasimhulu SS,
|
||
Mastropietro CW;
|
||
Collaborative Research from the Pediatric Cardiac Intensive Care Society Investigators</span><br />
|
||
<span class="medgenPMjournal">Ann Thorac Surg</span>
|
||
2023 Jan;115(1):144-150.
|
||
Epub 2022 Sep 6
|
||
doi: 10.1016/j.athoracsur.2022.08.040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36084696" target="_blank">36084696</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33726910">Discussion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morell VO</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
2022 Jan;163(1):235-236.
|
||
Epub 2021 Mar 13
|
||
doi: 10.1016/j.jtcvs.2021.01.137.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33726910" target="_blank">33726910</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29923476">Out-of-pocket medical expenses in severe CHD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elhoff JJ,
|
||
McHugh KE,
|
||
Buckley JR,
|
||
Morris SA,
|
||
Simpson KN,
|
||
Scheurer MA</span><br />
|
||
<span class="medgenPMjournal">Cardiol Young</span>
|
||
2018 Aug;28(8):1014-1018.
|
||
Epub 2018 Jun 20
|
||
doi: 10.1017/S1047951118000768.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29923476" target="_blank">29923476</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29590369">Rotation of the outflow tracts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sologashvili T,
|
||
Myers PO,
|
||
Beghetti M,
|
||
Prêtre R</span><br />
|
||
<span class="medgenPMjournal">Interact Cardiovasc Thorac Surg</span>
|
||
2018 Sep 1;27(3):463-464.
|
||
doi: 10.1093/icvts/ivy087.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29590369" target="_blank">29590369</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9917900">Repair of truncus arteriosus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barbero-Marcial ML,
|
||
Tanamati C</span><br />
|
||
<span class="medgenPMjournal">Adv Card Surg</span>
|
||
1998;10:43-73.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9917900" target="_blank">9917900</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Persistent%20truncus%20arteriosus%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 (219)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38976015">Van Praagh type A3 truncus arteriosus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thakur RS,
|
||
Pandey NN,
|
||
Kadiyani L,
|
||
Kumar S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2024 Aug;54(9):1556.
|
||
Epub 2024 Jul 8
|
||
doi: 10.1007/s00247-024-05989-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38976015" target="_blank">38976015</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35072407">Common Arterial Trunk with Interrupted Aortic Arch.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Estephan LMH,
|
||
Aranda AS,
|
||
Marchi CH,
|
||
Croti UA</span><br />
|
||
<span class="medgenPMjournal">Braz J Cardiovasc Surg</span>
|
||
2022 Mar 10;37(1):131-134.
|
||
doi: 10.21470/1678-9741-2021-0008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35072407" target="_blank">35072407</a><a href="/pmc/articles/PMC8973140" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33726910">Discussion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morell VO</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
2022 Jan;163(1):235-236.
|
||
Epub 2021 Mar 13
|
||
doi: 10.1016/j.jtcvs.2021.01.137.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33726910" target="_blank">33726910</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33577148">"Micro-Bentall" procedure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pelouze A,
|
||
Prêtre R,
|
||
Beghetti M,
|
||
Sologashvili T</span><br />
|
||
<span class="medgenPMjournal">Multimed Man Cardiothorac Surg</span>
|
||
2020 Dec 24;2020
|
||
doi: 10.1510/mmcts.2020.079.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33577148" target="_blank">33577148</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29923476">Out-of-pocket medical expenses in severe CHD.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elhoff JJ,
|
||
McHugh KE,
|
||
Buckley JR,
|
||
Morris SA,
|
||
Simpson KN,
|
||
Scheurer MA</span><br />
|
||
<span class="medgenPMjournal">Cardiol Young</span>
|
||
2018 Aug;28(8):1014-1018.
|
||
Epub 2018 Jun 20
|
||
doi: 10.1017/S1047951118000768.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29923476" target="_blank">29923476</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Persistent%20truncus%20arteriosus%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 (268)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36300270">Surgical Repair of Truncus Arteriosus: A Long-Term Hemodynamic Assessment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martín de Miguel I,
|
||
Jain CC,
|
||
Egbe AC,
|
||
Hagler DJ,
|
||
Connolly HM,
|
||
Miranda WR</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr Congenit Heart Surg</span>
|
||
2022 Nov;13(6):716-722.
|
||
doi: 10.1177/21501351221114779.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36300270" target="_blank">36300270</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34968446">Unexpected Septal and Truncal Valve Endocarditis After Transcatheter Pulmonary Valve Replacement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Everett AE,
|
||
Barrios P,
|
||
Karamlou T,
|
||
Phillips A,
|
||
Ahmad M,
|
||
Najm HK</span><br />
|
||
<span class="medgenPMjournal">Ann Thorac Surg</span>
|
||
2022 Sep;114(3):e169-e172.
|
||
Epub 2021 Dec 28
|
||
doi: 10.1016/j.athoracsur.2021.11.057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34968446" target="_blank">34968446</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33726910">Discussion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morell VO</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
2022 Jan;163(1):235-236.
|
||
Epub 2021 Mar 13
|
||
doi: 10.1016/j.jtcvs.2021.01.137.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33726910" target="_blank">33726910</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25233325">Dexmedetomidine attenuates hypoxemia during palliative reconstruction of the right ventricular outflow tract in pediatric patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen Q,
|
||
Wu W,
|
||
Zhang GC,
|
||
Cao H,
|
||
Chen LW,
|
||
Hu YN,
|
||
Chen YD</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2014 Sep;93(13):e69.
|
||
doi: 10.1097/MD.0000000000000069.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25233325" target="_blank">25233325</a><a href="/pmc/articles/PMC4616264" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20957476">Newborn with persistent truncus arteriosus and interrupted aortic arch demonstrating reverse left subclavian artery flow.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chan EL,
|
||
Tacy TA,
|
||
Punn R</span><br />
|
||
<span class="medgenPMjournal">Pediatr Cardiol</span>
|
||
2010 Nov;31(8):1254-6.
|
||
Epub 2010 Oct 19
|
||
doi: 10.1007/s00246-010-9817-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20957476" target="_blank">20957476</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Persistent%20truncus%20arteriosus%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 (47)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23331599">Intensive care management of neonates with d-transposition of the great arteries and common arterial trunk.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shamszad P,
|
||
Moore RA,
|
||
Ghanayem N,
|
||
Cooper DS</span><br />
|
||
<span class="medgenPMjournal">Cardiol Young</span>
|
||
2012 Dec;22(6):755-60.
|
||
doi: 10.1017/S1047951112001965.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23331599" target="_blank">23331599</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23331583">Understanding coronary arterial anatomy in the congenitally malformed heart.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anderson RH,
|
||
Chiu IS,
|
||
Spicer DE,
|
||
Hlavacek AJ</span><br />
|
||
<span class="medgenPMjournal">Cardiol Young</span>
|
||
2012 Dec;22(6):647-54.
|
||
doi: 10.1017/S1047951112001485.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23331583" target="_blank">23331583</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19040408">The Blalock-Taussig shunt.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yuan SM,
|
||
Shinfeld A,
|
||
Raanani E</span><br />
|
||
<span class="medgenPMjournal">J Card Surg</span>
|
||
2009 Mar-Apr;24(2):101-8.
|
||
Epub 2008 Nov 7
|
||
doi: 10.1111/j.1540-8191.2008.00758.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19040408" target="_blank">19040408</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15934704">Techniques for repairing the aortic and truncal valves.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Backer CL</span><br />
|
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<span class="medgenPMjournal">Cardiol Young</span>
|
||
2005 Feb;15 Suppl 1:125-31.
|
||
doi: 10.1017/s1047951105001150.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15934704" target="_blank">15934704</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9917900">Repair of truncus arteriosus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barbero-Marcial ML,
|
||
Tanamati C</span><br />
|
||
<span class="medgenPMjournal">Adv Card Surg</span>
|
||
1998;10:43-73.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9917900" target="_blank">9917900</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Persistent%20truncus%20arteriosus%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 (201)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36084696">Contemporary Multicenter Outcomes for Truncus Arteriosus With Interrupted Aortic Arch.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buckley JR,
|
||
Costello JM,
|
||
Smerling AJ,
|
||
Sassalos P,
|
||
Amula V,
|
||
Cashen K,
|
||
Riley CM,
|
||
Bakar AM,
|
||
Iliopoulos I,
|
||
Jennings A,
|
||
Narasimhulu SS,
|
||
Mastropietro CW;
|
||
Collaborative Research from the Pediatric Cardiac Intensive Care Society Investigators</span><br />
|
||
<span class="medgenPMjournal">Ann Thorac Surg</span>
|
||
2023 Jan;115(1):144-150.
|
||
Epub 2022 Sep 6
|
||
doi: 10.1016/j.athoracsur.2022.08.040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36084696" target="_blank">36084696</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32557823">Outcomes of truncus arteriosus repair and predictors of mortality.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hamzah M,
|
||
Othman HF,
|
||
Daphtary K,
|
||
Komarlu R,
|
||
Aly H</span><br />
|
||
<span class="medgenPMjournal">J Card Surg</span>
|
||
2020 Aug;35(8):1856-1864.
|
||
Epub 2020 Jun 19
|
||
doi: 10.1111/jocs.14730.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32557823" target="_blank">32557823</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32393289">Surgical repair for persistent truncus arteriosus in neonates and older children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alamri RM,
|
||
Dohain AM,
|
||
Arafat AA,
|
||
Elmahrouk AF,
|
||
Ghunaim AH,
|
||
Elassal AA,
|
||
Jamjoom AA,
|
||
Al-Radi OO</span><br />
|
||
<span class="medgenPMjournal">J Cardiothorac Surg</span>
|
||
2020 May 11;15(1):83.
|
||
doi: 10.1186/s13019-020-01114-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32393289" target="_blank">32393289</a><a href="/pmc/articles/PMC7216609" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19040408">The Blalock-Taussig shunt.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yuan SM,
|
||
Shinfeld A,
|
||
Raanani E</span><br />
|
||
<span class="medgenPMjournal">J Card Surg</span>
|
||
2009 Mar-Apr;24(2):101-8.
|
||
Epub 2008 Nov 7
|
||
doi: 10.1111/j.1540-8191.2008.00758.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19040408" target="_blank">19040408</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8775987">The search for genetic mechanisms of congenital heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bristow J</span><br />
|
||
<span class="medgenPMjournal">Cell Mol Biol Res</span>
|
||
1995;41(4):307-19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8775987" target="_blank">8775987</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Persistent%20truncus%20arteriosus%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 (84)</a></div></div>
|
||
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|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37474609">Outcomes in Primary Repair of Truncus Arteriosus with Significant Truncal Valve Insufficiency: A Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mitta A,
|
||
Vogel AD,
|
||
Korte JE,
|
||
Brennan E,
|
||
Bradley SM,
|
||
Kavarana MN,
|
||
Konrad Rajab T,
|
||
Kwon JH</span><br />
|
||
<span class="medgenPMjournal">Pediatr Cardiol</span>
|
||
2023 Dec;44(8):1649-1657.
|
||
Epub 2023 Jul 20
|
||
doi: 10.1007/s00246-023-03231-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37474609" target="_blank">37474609</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36970855">Outcomes of truncal valve replacement in neonates and infants: a meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hardy WA,
|
||
Kang L,
|
||
Turek JW,
|
||
Rajab TK</span><br />
|
||
<span class="medgenPMjournal">Cardiol Young</span>
|
||
2023 May;33(5):673-680.
|
||
Epub 2023 Mar 27
|
||
doi: 10.1017/S1047951123000604.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36970855" target="_blank">36970855</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Persistent%20truncus%20arteriosus%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<li><a href="/gtr/tests?term=C0041207%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=3384" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Persistent%20truncus%20arteriosus" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22persistent%20truncus%20arteriosus%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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<a href="/pubmed/clinical?term=Persistent%20truncus%20arteriosus" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Persistent%20truncus%20arteriosus%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=52867" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0041207[DISCUI]" ref="log$=recordlinks">GTR</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0041207[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<a class="text-white" href="https://www.hhs.gov/">HHS</a>
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||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
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||
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