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<meta name="keywords" content="C4551903, anomalous pulmonary venous return, congenital abnormality, congenital total pulmonary venous return anomaly, disease or syndrome, pulmonary venolobar syndrome, pulmonary venous return anomaly, scimitar anomaly, scimitar syndrome, tapvc - total anomalous pulmonary venous connection, tapvd - total anomalous pulmonary venous drainage, tapvr, tapvr - total anomalous pulmonary venous return, tapvr1, total anomalous pulmonary venous connection, total anomalous pulmonary venous drainage, total anomalous pulmonary venous return, total anomalous pulmonary venous return 1, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Total anomalous pulmonary venous return (TAPVR) is a cyanotic form of congenital heart defect in which the pulmonary veins fail to enter the left atrium and instead drain into the right atrium or one of the venous tributaries (summary by Bleyl et al., 1994)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1648157
|
||
ConceptID=C4551903
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital total pulmonary venous return anomaly<span class="h1sub">(TAPVR1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648157</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C4551903</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality; Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Pulmonary venous return anomaly; TAPVR1; Total anomalous pulmonary venous return; TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Total anomalous pulmonary venous connection (111323005); Total anomalous pulmonary venous return (111323005); TAPVC - total anomalous pulmonary venous connection (111323005); TAPVD - total anomalous pulmonary venous drainage (111323005); TAPVR - total anomalous pulmonary venous return (111323005)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<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_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:0005160">HP:0005160</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007130" target="_blank">MONDO:0007130</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/106700" target="_blank">106700</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=99125">ORPHA99125</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">Total anomalous pulmonary venous return (TAPVR) is a cyanotic form of congenital heart defect in which the pulmonary veins fail to enter the left atrium and instead drain into the right atrium or one of the venous tributaries (summary by Bleyl et al., 1994). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_4255"><div><strong>Dextrocardia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4255</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.">C0011813</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4255">Feature record</a> | <a href="/medgen?term=%22Dextrocardia%22%5BClinical%20Features%5D%20OR%204255%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_425404"><div><strong>Pulmonary arterial hypertension</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>425404</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.">C2973725</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/425404">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20arterial%20hypertension%22%5BClinical%20Features%5D%20OR%20425404%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1648157"><div><strong>Congenital total pulmonary venous return anomaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648157</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C4551903</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Total anomalous pulmonary venous return (TAPVR) is a cyanotic form of congenital heart defect in which the pulmonary veins fail to enter the left atrium and instead drain into the right atrium or one of the venous tributaries (summary by Bleyl et al., 1994).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648157">Feature record</a> | <a href="/medgen?term=%22Congenital%20total%20pulmonary%20venous%20return%20anomaly%22%5BClinical%20Features%5D%20OR%201648157%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_812812"><div><strong>Recurrent respiratory infections</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812812</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.">C3806482</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/812812">Feature record</a> | <a href="/medgen?term=%22Recurrent%20respiratory%20infections%22%5BClinical%20Features%5D%20OR%20812812%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1648157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital total pulmonary venous return anomaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4255" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dextrocardia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_425404" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary arterial hypertension</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_812812" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent respiratory infections</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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="TLline">Congenital total pulmonary venous return anomaly</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/2848" ref="tree=MeSH" title="MedGen record for Disorder of cardiovascular system">Disorder of cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/116727" ref="tree=MeSH" title="MedGen record for Abnormality of the cardiovascular system">Abnormality of the cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/66032" ref="tree=MeSH" title="MedGen record for Abnormality of the vasculature">Abnormality of the vasculature</a></span><ul><li><span class="TLline"><a href="/medgen/870814" ref="tree=MeSH" title="MedGen record for Abnormality of the pulmonary vasculature">Abnormality of the pulmonary vasculature</a></span><ul><li><span class="TLline"><a href="/medgen/539575" ref="tree=MeSH" title="MedGen record for Abnormality of the pulmonary veins">Abnormality of the pulmonary veins</a></span><ul><li><span class="matched_ds">Congenital total pulmonary venous return anomaly</span><ul><li><span class="TLline"><a href="/medgen/866779" ref="tree=MeSH" title="MedGen record for Cardiac total anomalous pulmonary venous connection">Cardiac total anomalous pulmonary venous connection</a></span></li><li><span class="TLline"><a href="/medgen/866778" ref="tree=MeSH" title="MedGen record for Infracardiac total anomalous pulmonary venous connection">Infracardiac total anomalous pulmonary venous connection</a></span></li><li><span class="TLline"><a href="/medgen/866777" ref="tree=MeSH" title="MedGen record for Mixed total anomalous pulmonary venous connection">Mixed total anomalous pulmonary venous connection</a></span></li><li><span class="TLline"><a href="/medgen/866780" ref="tree=MeSH" title="MedGen record for Supracardiac total anomalous pulmonary venous connection">Supracardiac total anomalous pulmonary venous connection</a></span></li><li><span class="TLline"><a href="/medgen/475906" ref="tree=MeSH" title="MedGen record for Type I Total Anomalous Pulmonary Venous Return">Type I Total Anomalous Pulmonary Venous Return</a></span></li><li><span class="TLline"><a href="/medgen/475908" ref="tree=MeSH" title="MedGen record for Type II Total Anomalous Pulmonary Venous Return">Type II Total Anomalous Pulmonary Venous Return</a></span></li><li><span class="TLline"><a href="/medgen/475913" ref="tree=MeSH" title="MedGen record for Type III Total Anomalous Pulmonary Venous Return">Type III Total Anomalous Pulmonary Venous Return</a></span></li><li><span class="TLline"><a href="/medgen/475914" ref="tree=MeSH" title="MedGen record for Type IV Total Anomalous Pulmonary Venous Return">Type IV Total Anomalous Pulmonary Venous Return</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<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>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_120543"><div><strong>Cat eye syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120543</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.">C0265493</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/120543">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_162917"><div><strong>Simpson-Golabi-Behmel syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162917</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.">C0796154</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacial features (including macrocephaly, coarse facial features, macrostomia, macroglossia, and palate abnormalities); and, commonly, mild-to-severe intellectual disability with or without structural brain anomalies. Other variable findings include supernumerary nipples, diastasis recti / umbilical hernia, congenital heart defects, diaphragmatic hernia, genitourinary defects, and gastrointestinal issues. Skeletal anomalies can include vertebral fusion, scoliosis, rib anomalies, and congenital hip dislocation. Hand anomalies can include large hands and postaxial polydactyly. Affected individuals are at increased risk for embryonal tumors including Wilms tumor, hepatoblastoma, adrenal neuroblastoma, gonadoblastoma, hepatocellular carcinoma, and medulloblastoma.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/162917">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_336609"><div><strong>Heterotaxy, visceral, 1, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336609</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.">C1844020</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Heterotaxy Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart Defects Congenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). Reviews Obler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral Heterotaxy See also HTX2 (605376), caused by mutation in the CFC1 gene (605194) on chromosome 2q21; HTX3 (606325), which maps to chromosome 6q21; HTX4 (613751), caused by mutation in the ACVR2B gene (602730) on chromosome 3p22; HTX5 (270100), caused by mutation in the NODAL gene (601265) on chromosome 10q22; HTX6 (614779), caused by mutation in the CCDC11 gene (614759) on chromosome 18q21; HTX7 (616749), caused by mutation in the MMP21 gene (608416) on chromosome 10q26; HTX8 (617205), caused by mutation in the PKD1L1 gene (609721) on chromosome 7p12; HTX9 (618948), caused by mutation in the MNS1 gene (610766) on chromosome 15q21; HTX10 (619607), caused by mutation in the CFAP52 gene (609804) on chromosome 17p13; HTX11 (619608), caused by mutation in the CFAP45 gene (605152) on chromosome 1q23; HTX12 (619702), caused by mutation in the CIROP gene (619703) on chromosome 14q11; HTX13 (621079), caused by mutation in the DAND5 gene (609068) on chromosome 19p13; and HTX14 (621080), caused by mutation in the CIROZ gene (619700) on chromosome 1p36. Genetic Heterogeneity of Multiple Types of Congenital Heart Defects An X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (614980) is caused by mutation in the TAB2 gene (605101) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3; 614954) has been mapped to chromosome 9q31. CHTD4 (615779) is caused by mutation in the NR2F2 gene (107773) on chromosome 15q26. CHTD5 (617912) is caused by mutation in the GATA5 gene (611496) on chromosome 20q13. CHTD6 (613854) is caused by mutation in the GDF1 gene (602880) on chromosome 19p13. CHTD7 (618780) is caused by mutation in the FLT4 gene (136352) on chromosome 5q35. CHTD8 (619657) is caused by mutation in the SMAD2 gene (601366) on chromosome 18q21. CHTD9 (620294) is caused by mutation in the PLXND1 gene (604282) on chromosome 3q22.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/336609">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_355340"><div><strong>Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355340</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.">C1864965</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/355340">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_400801"><div><strong>Desmosterolosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400801</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.">C1865596</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells (summary by Waterham et al., 2001).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/400801">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_462407"><div><strong>Heterotaxy, visceral, 4, autosomal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462407</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.">C3151057</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/462407">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_462571"><div><strong>Congenital heart defects, multiple types, 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462571</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.">C3151221</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Multiple types of congenital heart defects are associated with mutation in the GDF1 gene, including tetralogy of fallot (TOF), transposition of the great arteries (TGA), double-outlet right ventricle (DORV), total anomalous pulmonary venous return (TAPVR), pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect (VSD), and hypoplastic left or right ventricle (Jin et al., 2017). For a discussion of genetic heterogeneity of multiple types of congenital heart defects, see 306955.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/462571">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_465274"><div><strong>Right atrial isomerism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>465274</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.">C3178806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/465274">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_501198"><div><strong>Heterotaxy, visceral, 5, autosomal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501198</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.">C3495537</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/501198">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_766590"><div><strong>Heterotaxy, visceral, 6, autosomal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766590</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.">C3553676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Visceral heterotaxy-6 (HTX6) is characterized by dextrocardia with or without accompanying complex cardiovascular defects, as well as variable manifestations of visceral heterotaxy, including situs inversus totalis (Perles et al., 2012).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/766590">Condition Record</a></div></div>
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<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>
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<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>
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<div class="spaceAbove nowrap">See: <a href="/medgen/902629">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1648157"><div><strong>Congenital total pulmonary venous return anomaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648157</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C4551903</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Total anomalous pulmonary venous return (TAPVR) is a cyanotic form of congenital heart defect in which the pulmonary veins fail to enter the left atrium and instead drain into the right atrium or one of the venous tributaries (summary by Bleyl et al., 1994).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1648157">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1674961"><div><strong>Diamond-Blackfan anemia 20</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1674961</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.">C5193022</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1674961">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1852921"><div><strong>Ciliary dyskinesia, primary, 52</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1852921</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.">C5882714</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Primary ciliary dyskinesia-52 (CILD52) is an autosomal recessive disorder characterized by laterality defects and mild respiratory symptoms due to subtle ciliary beating defects (summary by Leslie et al., 2022). For a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1852921">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355340" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120543" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cat eye syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1852921" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ciliary dyskinesia, primary, 52</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462571" 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, 6</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital total pulmonary venous return anomaly</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (14)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400801" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Desmosterolosis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1674961" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 20</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336609" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 1, X-linked</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462407" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 4, autosomal</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501198" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 5, autosomal</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766590" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 6, autosomal</a></div>
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<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_465274" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Right atrial isomerism</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Simpson-Golabi-Behmel syndrome type 1</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/33398887">Prenatal diagnosis of total anomalous pulmonary venous connection: 2D and 3D echocardiographic findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bravo-Valenzuela NJM,
|
||
Peixoto AB,
|
||
Araujo Júnior E</span><br />
|
||
<span class="medgenPMjournal">J Clin Ultrasound</span>
|
||
2021 Mar;49(3):240-247.
|
||
Epub 2021 Jan 4
|
||
doi: 10.1002/jcu.22973.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33398887" target="_blank">33398887</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31270117">Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bakker MK,
|
||
Bergman JEH,
|
||
Krikov S,
|
||
Amar E,
|
||
Cocchi G,
|
||
Cragan J,
|
||
de Walle HEK,
|
||
Gatt M,
|
||
Groisman B,
|
||
Liu S,
|
||
Nembhard WN,
|
||
Pierini A,
|
||
Rissmann A,
|
||
Chidambarathanu S,
|
||
Sipek A Jr,
|
||
Szabova E,
|
||
Tagliabue G,
|
||
Tucker D,
|
||
Mastroiacovo P,
|
||
Botto LD</span><br />
|
||
<span class="medgenPMjournal">BMJ Open</span>
|
||
2019 Jul 2;9(7):e028139.
|
||
doi: 10.1136/bmjopen-2018-028139.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31270117" target="_blank">31270117</a><a href="/pmc/articles/PMC6609145" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25474186">Echocardiographic differential diagnosis of the cyanotic newborn.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deeg KH</span><br />
|
||
<span class="medgenPMjournal">Ultraschall Med</span>
|
||
2015 Apr;36(2):104-18; quiz 119-20.
|
||
Epub 2014 Dec 4
|
||
doi: 10.1055/s-0034-1385493.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25474186" target="_blank">25474186</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(congenital%20total%20pulmonary%20venous%20return%20anomaly)%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 (17)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/CCHD-ACT-Sheet.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Hypoxemia, Critical Congenital Heart Disease, 2013</a></h3>
|
||
</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/35570017">Cardiac-type total anomalous pulmonary venous return is not benign.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi G,
|
||
Zhu F,
|
||
Wen C,
|
||
Yan Y,
|
||
Zhang H,
|
||
Zhu Z,
|
||
Chen H</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
2023 Feb;165(2):449-459.e4.
|
||
Epub 2022 Apr 19
|
||
doi: 10.1016/j.jtcvs.2022.03.036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35570017" target="_blank">35570017</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35979734">Application of sutureless technique in total anomalous pulmonary venous connection repair.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Z,
|
||
Ding N,
|
||
Yi H,
|
||
Zhu Y,
|
||
Li Z,
|
||
Yan D,
|
||
Li X,
|
||
Bai S</span><br />
|
||
<span class="medgenPMjournal">J Card Surg</span>
|
||
2022 Nov;37(11):3769-3775.
|
||
Epub 2022 Aug 18
|
||
doi: 10.1111/jocs.16843.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35979734" target="_blank">35979734</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35485638">Invited commentary for: Essential role of cardiac computed tomography for surgical decision making in children with total anomalous pulmonary venous connection and single ventricle.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stevens RM,
|
||
Sun J,
|
||
Throckmorton A,
|
||
Garven E,
|
||
Poletto E</span><br />
|
||
<span class="medgenPMjournal">J Card Surg</span>
|
||
2022 Jul;37(7):2166-2167.
|
||
Epub 2022 Apr 29
|
||
doi: 10.1111/jocs.16497.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35485638" target="_blank">35485638</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34669211">Emergency surgical treatment of total anomalous pulmonary venous connection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu Y,
|
||
Fan X,
|
||
Chen L,
|
||
Wang D,
|
||
Su J,
|
||
Jin C,
|
||
Wang Z</span><br />
|
||
<span class="medgenPMjournal">J Card Surg</span>
|
||
2022 Jan;37(1):47-52.
|
||
Epub 2021 Oct 20
|
||
doi: 10.1111/jocs.16079.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34669211" target="_blank">34669211</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31270117">Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bakker MK,
|
||
Bergman JEH,
|
||
Krikov S,
|
||
Amar E,
|
||
Cocchi G,
|
||
Cragan J,
|
||
de Walle HEK,
|
||
Gatt M,
|
||
Groisman B,
|
||
Liu S,
|
||
Nembhard WN,
|
||
Pierini A,
|
||
Rissmann A,
|
||
Chidambarathanu S,
|
||
Sipek A Jr,
|
||
Szabova E,
|
||
Tagliabue G,
|
||
Tucker D,
|
||
Mastroiacovo P,
|
||
Botto LD</span><br />
|
||
<span class="medgenPMjournal">BMJ Open</span>
|
||
2019 Jul 2;9(7):e028139.
|
||
doi: 10.1136/bmjopen-2018-028139.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31270117" target="_blank">31270117</a><a href="/pmc/articles/PMC6609145" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20total%20pulmonary%20venous%20return%20anomaly%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 (120)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35298854">Laryngeal atresia, esophageal atresia, and total anomalous pulmonary venous return in a monochorionic twin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kimoto Y,
|
||
Takahashi K,
|
||
Usui N,
|
||
Takeuchi M,
|
||
Wada K</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2022 Jan;64(1):e14986.
|
||
doi: 10.1111/ped.14986.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35298854" target="_blank">35298854</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33398887">Prenatal diagnosis of total anomalous pulmonary venous connection: 2D and 3D echocardiographic findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bravo-Valenzuela NJM,
|
||
Peixoto AB,
|
||
Araujo Júnior E</span><br />
|
||
<span class="medgenPMjournal">J Clin Ultrasound</span>
|
||
2021 Mar;49(3):240-247.
|
||
Epub 2021 Jan 4
|
||
doi: 10.1002/jcu.22973.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33398887" target="_blank">33398887</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32445203">Adults forms of scimitar syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mounir R,
|
||
Nya F,
|
||
Mohammed B,
|
||
Ayad A,
|
||
Bamous M</span><br />
|
||
<span class="medgenPMjournal">J Card Surg</span>
|
||
2020 Jul;35(7):1697-1699.
|
||
Epub 2020 May 22
|
||
doi: 10.1111/jocs.14625.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32445203" target="_blank">32445203</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31270117">Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bakker MK,
|
||
Bergman JEH,
|
||
Krikov S,
|
||
Amar E,
|
||
Cocchi G,
|
||
Cragan J,
|
||
de Walle HEK,
|
||
Gatt M,
|
||
Groisman B,
|
||
Liu S,
|
||
Nembhard WN,
|
||
Pierini A,
|
||
Rissmann A,
|
||
Chidambarathanu S,
|
||
Sipek A Jr,
|
||
Szabova E,
|
||
Tagliabue G,
|
||
Tucker D,
|
||
Mastroiacovo P,
|
||
Botto LD</span><br />
|
||
<span class="medgenPMjournal">BMJ Open</span>
|
||
2019 Jul 2;9(7):e028139.
|
||
doi: 10.1136/bmjopen-2018-028139.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31270117" target="_blank">31270117</a><a href="/pmc/articles/PMC6609145" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28107801">Surgical Considerations in Total Anomalous Pulmonary Venous Connection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shaw FR,
|
||
Chen JM</span><br />
|
||
<span class="medgenPMjournal">Semin Cardiothorac Vasc Anesth</span>
|
||
2017 Jun;21(2):132-137.
|
||
Epub 2017 Jan 20
|
||
doi: 10.1177/1089253216688535.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28107801" target="_blank">28107801</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20total%20pulmonary%20venous%20return%20anomaly%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 (130)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35979734">Application of sutureless technique in total anomalous pulmonary venous connection repair.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Z,
|
||
Ding N,
|
||
Yi H,
|
||
Zhu Y,
|
||
Li Z,
|
||
Yan D,
|
||
Li X,
|
||
Bai S</span><br />
|
||
<span class="medgenPMjournal">J Card Surg</span>
|
||
2022 Nov;37(11):3769-3775.
|
||
Epub 2022 Aug 18
|
||
doi: 10.1111/jocs.16843.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35979734" target="_blank">35979734</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35726661">Total anomalous pulmonary venous connection: 16 years of surgical results in a single center.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cervantes-Salazar JL,
|
||
Calderón-Colmenero J,
|
||
Martínez-Guzmán A,
|
||
García-Montes JA,
|
||
Rivera-Buendía F,
|
||
Ortega-Zhindón DB</span><br />
|
||
<span class="medgenPMjournal">J Card Surg</span>
|
||
2022 Oct;37(10):2980-2987.
|
||
Epub 2022 Jun 21
|
||
doi: 10.1111/jocs.16699.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35726661" target="_blank">35726661</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33966882">Total anomalous pulmonary venous connection: Influence of heterotaxy and venous obstruction on outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spigel ZA,
|
||
Edmunds EE,
|
||
Caldarone CA,
|
||
Hickey EJ,
|
||
Binsalamah ZM,
|
||
Heinle JS</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
2022 Feb;163(2):387-395.e3.
|
||
Epub 2021 Apr 2
|
||
doi: 10.1016/j.jtcvs.2021.03.058.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33966882" target="_blank">33966882</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28926132">Prenatal diagnosis of total and partial anomalous pulmonary venous connection: multicenter cohort study and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paladini D,
|
||
Pistorio A,
|
||
Wu LH,
|
||
Meccariello G,
|
||
Lei T,
|
||
Tuo G,
|
||
Donarini G,
|
||
Marasini M,
|
||
Xie HN</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2018 Jul;52(1):24-34.
|
||
doi: 10.1002/uog.18907.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28926132" target="_blank">28926132</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27694572">Perioperative and Anesthetic Considerations in Total Anomalous Pulmonary Venous Connection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ross FJ,
|
||
Joffe D,
|
||
Latham GJ</span><br />
|
||
<span class="medgenPMjournal">Semin Cardiothorac Vasc Anesth</span>
|
||
2017 Jun;21(2):138-144.
|
||
Epub 2016 Sep 29
|
||
doi: 10.1177/1089253216672012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27694572" target="_blank">27694572</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20total%20pulmonary%20venous%20return%20anomaly%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 (28)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35570017">Cardiac-type total anomalous pulmonary venous return is not benign.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi G,
|
||
Zhu F,
|
||
Wen C,
|
||
Yan Y,
|
||
Zhang H,
|
||
Zhu Z,
|
||
Chen H</span><br />
|
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<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
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2023 Feb;165(2):449-459.e4.
|
||
Epub 2022 Apr 19
|
||
doi: 10.1016/j.jtcvs.2022.03.036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35570017" target="_blank">35570017</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35652889">Prognosis and related risk factors analysis of total anomalous pulmonary venous connection correction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Z,
|
||
Ding N,
|
||
Yi H,
|
||
Zhu Y,
|
||
Li Z,
|
||
Yan D,
|
||
Li X,
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||
Bai S</span><br />
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<span class="medgenPMjournal">J Card Surg</span>
|
||
2022 Sep;37(9):2524-2535.
|
||
Epub 2022 Jun 2
|
||
doi: 10.1111/jocs.16652.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35652889" target="_blank">35652889</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35630104">Surgical Outcomes of Total Anomalous Pulmonary Venous Connection Repair.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Jaworski R,
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Kansy A,
|
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Friedman-Gruszczynska J,
|
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Bieganowska K,
|
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Mirkowicz-Malek M</span><br />
|
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<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2022 May 23;58(5)
|
||
doi: 10.3390/medicina58050687.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35630104" target="_blank">35630104</a><a href="/pmc/articles/PMC9145912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/34396590">Surgical management of the scimitar syndrome.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Chowdhury UK,
|
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Anderson RH,
|
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Sankhyan LK,
|
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George N,
|
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Pandey NN,
|
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Chauhan AS,
|
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Arora Y,
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Goja S</span><br />
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<span class="medgenPMjournal">J Card Surg</span>
|
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2021 Oct;36(10):3770-3795.
|
||
Epub 2021 Aug 16
|
||
doi: 10.1111/jocs.15857.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34396590" target="_blank">34396590</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24887821">A rare variety of mixed total anomalous pulmonary venous connection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mishra A,
|
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Sharma P,
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Patel R,
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Panchal J,
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Solanki A</span><br />
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<span class="medgenPMjournal">Asian Cardiovasc Thorac Ann</span>
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2014 Sep;22(7):849-51.
|
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Epub 2013 Oct 17
|
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doi: 10.1177/0218492313486120.
|
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<span class="bold">PMID: </span><a href="/pubmed/24887821" target="_blank">24887821</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20total%20pulmonary%20venous%20return%20anomaly%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 (79)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36566530">Anatomical attention-based prediction of postoperative pulmonary venous obstruction via CTA images.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pei Y,
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Shi G,
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Li J,
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Sun D,
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Wen C,
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Li J,
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Huang M,
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Chen H,
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Wang L</span><br />
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<span class="medgenPMjournal">Comput Med Imaging Graph</span>
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2023 Jan;103:102163.
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Epub 2022 Dec 15
|
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doi: 10.1016/j.compmedimag.2022.102163.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36566530" target="_blank">36566530</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35570017">Cardiac-type total anomalous pulmonary venous return is not benign.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shi G,
|
||
Zhu F,
|
||
Wen C,
|
||
Yan Y,
|
||
Zhang H,
|
||
Zhu Z,
|
||
Chen H</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
2023 Feb;165(2):449-459.e4.
|
||
Epub 2022 Apr 19
|
||
doi: 10.1016/j.jtcvs.2022.03.036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35570017" target="_blank">35570017</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35652889">Prognosis and related risk factors analysis of total anomalous pulmonary venous connection correction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Z,
|
||
Ding N,
|
||
Yi H,
|
||
Zhu Y,
|
||
Li Z,
|
||
Yan D,
|
||
Li X,
|
||
Bai S</span><br />
|
||
<span class="medgenPMjournal">J Card Surg</span>
|
||
2022 Sep;37(9):2524-2535.
|
||
Epub 2022 Jun 2
|
||
doi: 10.1111/jocs.16652.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35652889" target="_blank">35652889</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33941300">Total anomalous pulmonary venous connection mimicking hypoplastic left heart syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matsuoka R,
|
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Muneuchi J,
|
||
Ochiai Y</span><br />
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<span class="medgenPMjournal">Cardiol Young</span>
|
||
2021 Nov;31(11):1861-1863.
|
||
Epub 2021 May 4
|
||
doi: 10.1017/S1047951121001670.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33941300" target="_blank">33941300</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28926132">Prenatal diagnosis of total and partial anomalous pulmonary venous connection: multicenter cohort study and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paladini D,
|
||
Pistorio A,
|
||
Wu LH,
|
||
Meccariello G,
|
||
Lei T,
|
||
Tuo G,
|
||
Donarini G,
|
||
Marasini M,
|
||
Xie HN</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2018 Jul;52(1):24-34.
|
||
doi: 10.1002/uog.18907.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28926132" target="_blank">28926132</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20total%20pulmonary%20venous%20return%20anomaly%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 (38)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/35426500">Sutureless Closure Versus Conventional Technique in the Primary Surgery of Total Anomalous Pulmonary Venous Connection: A Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thanh DQL,
|
||
Giau HTN,
|
||
Huong TNG,
|
||
Linh TNU,
|
||
Phuc VM,
|
||
Vuong NL</span><br />
|
||
<span class="medgenPMjournal">Pediatr Cardiol</span>
|
||
2022 Jun;43(5):943-951.
|
||
Epub 2022 Apr 15
|
||
doi: 10.1007/s00246-022-02904-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35426500" target="_blank">35426500</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30196381">Is Sutureless Technique Beneficial in the Primary Repair of Total Anomalous Pulmonary Venous Connection? A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu Y,
|
||
Xin L,
|
||
Zhou Y,
|
||
Kuang H,
|
||
Jin X,
|
||
Li Y,
|
||
Wu C</span><br />
|
||
<span class="medgenPMjournal">Pediatr Cardiol</span>
|
||
2019 Jun;40(5):881-891.
|
||
Epub 2018 Sep 8
|
||
doi: 10.1007/s00246-018-1948-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30196381" target="_blank">30196381</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29907127">Sutureless technique versus conventional surgery in the primary treatment of total anomalous pulmonary venous connection: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu Y,
|
||
Wu Z,
|
||
Zheng J,
|
||
Li Y,
|
||
Zhou Y,
|
||
Kuang H,
|
||
Jin X,
|
||
Wu C</span><br />
|
||
<span class="medgenPMjournal">J Cardiothorac Surg</span>
|
||
2018 Jun 15;13(1):69.
|
||
doi: 10.1186/s13019-018-0756-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29907127" target="_blank">29907127</a><a href="/pmc/articles/PMC6003069" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28926132">Prenatal diagnosis of total and partial anomalous pulmonary venous connection: multicenter cohort study and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paladini D,
|
||
Pistorio A,
|
||
Wu LH,
|
||
Meccariello G,
|
||
Lei T,
|
||
Tuo G,
|
||
Donarini G,
|
||
Marasini M,
|
||
Xie HN</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2018 Jul;52(1):24-34.
|
||
doi: 10.1002/uog.18907.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28926132" target="_blank">28926132</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21127116">Intrauterine exposure to carbamazepine and specific congenital malformations: systematic review and case-control study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jentink J,
|
||
Dolk H,
|
||
Loane MA,
|
||
Morris JK,
|
||
Wellesley D,
|
||
Garne E,
|
||
de Jong-van den Berg L;
|
||
EUROCAT Antiepileptic Study Working Group</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2010 Dec 2;341:c6581.
|
||
doi: 10.1136/bmj.c6581.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21127116" target="_blank">21127116</a><a href="/pmc/articles/PMC2996546" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20total%20pulmonary%20venous%20return%20anomaly%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 (6)</a></div></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=(congenital%20total%20pulmonary%20venous%20return%20anomaly)%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Congenital%20total%20pulmonary%20venous%20return%20anomaly%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/CCHD-ACT-Sheet.pdf">ACMG ACT, 2013</a><div>American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Hypoxemia, Critical Congenital Heart Disease, 2013</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Pulmonary+venous+return+anomaly/6098" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/total_anomalous_pulmonary_venous_return_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Congenital%20total%20pulmonary%20venous%20return%20anomaly" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/16896/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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