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<meta name="keywords" content="C0152419, aortic arch interruption, aortic arch obstruction, atretic transverse aortic arch, congenital abnormality, iaa - interrupted aortic arch, interrupted aortic arch, 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="Non-continuity of the arch of aorta with an atretic point or absent segment." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=57773
|
||
ConceptID=C0152419
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Aortic arch interruption</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57773</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:">C0152419</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Interrupted aortic arch</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>IAA - Interrupted aortic arch (218728005); Interrupted aortic arch (218728005)</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:0011611">HP:0011611</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009010" target="_blank">MONDO:0009010</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></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=2299">ORPHA2299</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">Non-continuity of the arch of aorta with an atretic point or absent segment. [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">
|
||
<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 unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=57773" 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=57773" ref="ncbi_uid=57773">V</a></span></span><span class="TLline">Aortic arch interruption</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/871269" ref="tree=MeSH" title="MedGen record for Abnormal aortic morphology">Abnormal aortic morphology</a></span><ul><li><span class="TLline"><a href="/medgen/507002" ref="tree=MeSH" title="MedGen record for Abnormal aortic arch morphology">Abnormal aortic arch morphology</a></span><ul><li><span class="matched_ds">Aortic arch interruption</span><ul><li><span class="TLline"><a href="/medgen/488874" ref="tree=MeSH" title="MedGen record for Interrupted aortic arch type A">Interrupted aortic arch type A</a></span></li><li><span class="TLline"><a href="/medgen/488875" ref="tree=MeSH" title="MedGen record for Interrupted aortic arch type B">Interrupted aortic arch type B</a></span></li><li><span class="TLline"><a href="/medgen/488876" ref="tree=MeSH" title="MedGen record for Interrupted aortic arch type C">Interrupted aortic arch type C</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_65085"><div><strong>Velocardiofacial syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65085</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.">C0220704</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/65085">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162897"><div><strong>Kabuki syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162897</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.">C0796004</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild-to-moderate intellectual disability, and postnatal growth deficiency. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. Functional differences can include: increased susceptibility to infections and autoimmune disorders, seizures, endocrinologic abnormalities (including isolated premature thelarche in females), feeding problems, and hearing loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162897">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162909"><div><strong>Perlman syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162909</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.">C0796113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Perlman syndrome (PRLMNS) is an autosomal recessive congenital overgrowth syndrome with similarities to Beckwith-Wiedemann syndrome (BWS; 130650). Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor, with a 64% incidence in infants surviving beyond the neonatal period. The tumor is diagnosed at an earlier age in these individuals compared with sporadic cases (less than 2 years and 3-4 years of age, respectively), and there is a high frequency of bilateral tumors (55%). Histologic examination of the kidneys in children with Perlman syndrome shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor (summary by Astuti et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162909">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350733"><div><strong>Aortic arch interruption, facial palsy, and retinal coloboma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350733</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.">C1862681</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/350733">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_394716"><div><strong>X-linked intellectual disability-craniofacioskeletal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394716</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.">C2678036</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/394716">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_755478"><div><strong>Alveolar capillary dysplasia with pulmonary venous misalignment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>755478</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.">C2960310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is characterized histologically by failure of formation and ingrowth of alveolar capillaries that then do not make contact with alveolar epithelium, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity (Boggs et al., 1994). Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period (Vassal et al., 1998). Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs (Sen et al., 2004).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/755478">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_902629"><div><strong>Heterotaxy, visceral, 7, autosomal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902629</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225217</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Visceral heterotaxy-7 (HTX7) is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by Guimier et al., 2015). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902629">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934760"><div><strong>Heart and brain malformation syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934760</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.">C4310793</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Heart and brain malformation syndrome (HBMS) is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016). Homozygous mutation in the SMG9 gene can also cause neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies (NEDITPDO; 619995), a less severe neurodevelopmental disorder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934760">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_1637716"><div><strong>Feingold syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1637716</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.">C4551774</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Feingold syndrome 1 (referred to as FS1 in this GeneReview) is characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresias (primarily esophageal and/or duodenal), and mild-to-moderate learning disability.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1637716">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648333"><div><strong>Cardiac-urogenital syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648333</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.">C4748946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MYRF-related cardiac urogenital syndrome (MYRF-CUGS) is primarily characterized by anomalies of the internal and external genitalia, congenital heart defects, and eye anomalies. 46,XY individuals can have a range of anomalies of the genitalia, from isolated unilateral cryptorchidism to ambiguous genitalia to typical-appearing female genitalia. 46,XX individuals can have atypical internal genitalia including absent uterus, absent fallopian tubes, small or absent ovaries, absent vagina, or blind-ending vagina. A number of congenital heart defects have been described, with scimitar syndrome being the most common. Eye issues, present in a vast majority of affected individuals, include high hyperopia and nanophthalmos (an ocular malformation featuring short axial length due to small anterior and posterior segments with thickened choroid and sclera and normal lens volume). Because of the common nature of the eye anomalies, it has been suggested that this condition may be more accurately referred to as "MYRF-related ocular cardiac urogenital syndrome." Other features of the condition include a broad range of developmental delay /intellectual disability (DD/ID), from typical development and cognition to severe DD/ID; pulmonary abnormalities and diaphragmatic issues (congenital diaphragmatic hernia / diaphragmatic eventration); intestinal malrotation; and mild growth and feeding problems.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648333">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_755478" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Alveolar capillary dysplasia with pulmonary venous misalignment</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350733" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aortic arch interruption, facial palsy, and retinal coloboma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648333" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac-urogenital syndrome</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_1637716" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feingold syndrome type 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (13)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934760" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heart and brain malformation syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902629" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 7, autosomal</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162897" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kabuki syndrome</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_162909" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perlman 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_65085" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Velocardiofacial syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394716" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked intellectual disability-craniofacioskeletal 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/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/6763200">Evaluation of alprostadil (prostaglandin E1) in the management of congenital heart disease in infancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heymann MA,
|
||
Clyman RI</span><br />
|
||
<span class="medgenPMjournal">Pharmacotherapy</span>
|
||
1982 May-Jun;2(3):148-55.
|
||
doi: 10.1002/j.1875-9114.1982.tb04522.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6763200" target="_blank">6763200</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7446413">Management of aortic arch interruption with prostaglandin E1 infusion and microporous expanded polytetrafluoroethylene grafts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zahka KG,
|
||
Roland JM,
|
||
Cutilletta AF,
|
||
Gardner TJ,
|
||
Donahoo JS,
|
||
Kidd L</span><br />
|
||
<span class="medgenPMjournal">Am J Cardiol</span>
|
||
1980 Dec 1;46(6):1001-5.
|
||
doi: 10.1016/0002-9149(80)90358-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7446413" target="_blank">7446413</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22aortic%20arch%20interruption%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 (4)</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/39019788">Echocardiographic features and pathological ultrastructural characteristics of fetal interruption of aortic arch.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guan H,
|
||
Wang X,
|
||
Zhou Q,
|
||
Tian L,
|
||
Yang Z,
|
||
Yang S</span><br />
|
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<span class="medgenPMjournal">Zhong Nan Da Xue Xue Bao Yi Xue Ban</span>
|
||
2024 Apr 28;49(4):595-602.
|
||
doi: 10.11817/j.issn.1672-7347.2024.230527.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39019788" target="_blank">39019788</a><a href="/pmc/articles/PMC11255185" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24060690">Favourable anatomy after end-to-side repair of interrupted aortic arch.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu JY,
|
||
Jones B,
|
||
Cheung MM,
|
||
Galati JC,
|
||
Koleff J,
|
||
Konstantinov IE,
|
||
Grigg LE,
|
||
Brizard CP,
|
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d'Udekem Y</span><br />
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<span class="medgenPMjournal">Heart Lung Circ</span>
|
||
2014 Mar;23(3):256-64.
|
||
Epub 2013 Aug 30
|
||
doi: 10.1016/j.hlc.2013.08.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24060690" target="_blank">24060690</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15919313">Repair of truncus arteriosus and aortic arch interruption: outcome analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miyamoto T,
|
||
Sinzobahamvya N,
|
||
Kumpikaite D,
|
||
Asfour B,
|
||
Photiadis J,
|
||
Brecher AM,
|
||
Urban AE</span><br />
|
||
<span class="medgenPMjournal">Ann Thorac Surg</span>
|
||
2005 Jun;79(6):2077-82.
|
||
doi: 10.1016/j.athoracsur.2004.11.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15919313" target="_blank">15919313</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9030796">Repair of aortic arch interruption by direct anastomosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bogers AJ,
|
||
Contant CM,
|
||
Hokken RB,
|
||
Cromme-Dijkhuis AH</span><br />
|
||
<span class="medgenPMjournal">Eur J Cardiothorac Surg</span>
|
||
1997 Jan;11(1):100-4.
|
||
doi: 10.1016/s1010-7940(96)01024-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9030796" target="_blank">9030796</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/46943">A palliative operation for all types of aortic arch interruption in the neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jones EL,
|
||
Plauth WH,
|
||
Hatcher CR Jr</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
1975 Apr;69(4):579-84.
|
||
<span class="bold">PMID: </span><a href="/pubmed/46943" target="_blank">46943</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aortic%20arch%20interruption%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 (21)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29703780">Prenatal Diagnosis of Distal Aortopulmonary Window With Type A Aortic Arch Interruption With 4-Dimensional Spatiotemporal Image Correlation Rendering.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vaidyanathan B,
|
||
Vijayaraghavan A,
|
||
Karmagaraj B,
|
||
Kottayil B</span><br />
|
||
<span class="medgenPMjournal">Circ Cardiovasc Imaging</span>
|
||
2018 May;11(5):e007721.
|
||
doi: 10.1161/CIRCIMAGING.118.007721.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29703780" target="_blank">29703780</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26989996">Induced Pectus Carinatum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maddali MM,
|
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Valliattu J,
|
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Kandachar PS,
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Thomas E,
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Nishant AR</span><br />
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<span class="medgenPMjournal">J Card Surg</span>
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2016 May;31(5):357-60.
|
||
Epub 2016 Mar 16
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doi: 10.1111/jocs.12734.
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<span class="bold">PMID: </span><a href="/pubmed/26989996" target="_blank">26989996</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26141395">An inoperable aortic arch interruption in a patient with differential cyanosis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Fan C,
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Yang J</span><br />
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<span class="medgenPMjournal">Eur Heart J</span>
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2016 Jan 1;37(1):62.
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Epub 2015 Jul 3
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doi: 10.1093/eurheartj/ehv287.
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<span class="bold">PMID: </span><a href="/pubmed/26141395" target="_blank">26141395</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/24135833">Newly diagnosed aortic arch interruption in an adult presenting with heart failure.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rybicka J,
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Dobrowolski P,
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Kusmierczyk M,
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Rózanski J,
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Michalowska I,
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<span class="medgenPMjournal">Eur Heart J</span>
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2014 Mar;35(11):743.
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Epub 2013 Oct 17
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doi: 10.1093/eurheartj/eht440.
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<span class="bold">PMID: </span><a href="/pubmed/24135833" target="_blank">24135833</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21256334">Aortic arch interruption with thoracic aortic dissection.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Li J,
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Zheng M</span><br />
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<span class="medgenPMjournal">Ann Thorac Surg</span>
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2011 Feb;91(2):615.
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doi: 10.1016/j.athoracsur.2010.06.037.
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<span class="bold">PMID: </span><a href="/pubmed/21256334" target="_blank">21256334</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aortic%20arch%20interruption%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 (48)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39019788">Echocardiographic features and pathological ultrastructural characteristics of fetal interruption of aortic arch.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guan H,
|
||
Wang X,
|
||
Zhou Q,
|
||
Tian L,
|
||
Yang Z,
|
||
Yang S</span><br />
|
||
<span class="medgenPMjournal">Zhong Nan Da Xue Xue Bao Yi Xue Ban</span>
|
||
2024 Apr 28;49(4):595-602.
|
||
doi: 10.11817/j.issn.1672-7347.2024.230527.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39019788" target="_blank">39019788</a><a href="/pmc/articles/PMC11255185" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27130951">Reoperation for right ventricular outflow tract obstruction after arterial switch operation for transposition of the great arteries and aortic arch obstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bokenkamp R,
|
||
Aguilar E,
|
||
van der Palen RL,
|
||
Sojak V,
|
||
Bruggemans EF,
|
||
Hruda J,
|
||
Kuipers IM,
|
||
Hazekamp MG</span><br />
|
||
<span class="medgenPMjournal">Eur J Cardiothorac Surg</span>
|
||
2016 May;49(5):e91-6.
|
||
doi: 10.1093/ejcts/ezw026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27130951" target="_blank">27130951</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24060690">Favourable anatomy after end-to-side repair of interrupted aortic arch.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu JY,
|
||
Jones B,
|
||
Cheung MM,
|
||
Galati JC,
|
||
Koleff J,
|
||
Konstantinov IE,
|
||
Grigg LE,
|
||
Brizard CP,
|
||
d'Udekem Y</span><br />
|
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<span class="medgenPMjournal">Heart Lung Circ</span>
|
||
2014 Mar;23(3):256-64.
|
||
Epub 2013 Aug 30
|
||
doi: 10.1016/j.hlc.2013.08.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24060690" target="_blank">24060690</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23223671">Aortic arch reconstruction in newborns with an autologous pericardial patch: contemporary results.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bernabei M,
|
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Margaryan R,
|
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Arcieri L,
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Bianchi G,
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Pak V,
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Murzi B</span><br />
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<span class="medgenPMjournal">Interact Cardiovasc Thorac Surg</span>
|
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2013 Mar;16(3):282-5.
|
||
Epub 2012 Dec 7
|
||
doi: 10.1093/icvts/ivs510.
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<span class="bold">PMID: </span><a href="/pubmed/23223671" target="_blank">23223671</a><a href="/pmc/articles/PMC3568820" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20022521">Pseudo-aneurysm of the left carotid artery after surgery for aortic arch interruption.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu P,
|
||
Sun Y,
|
||
Shu T</span><br />
|
||
<span class="medgenPMjournal">Eur J Cardiothorac Surg</span>
|
||
2010 May;37(5):1231.
|
||
Epub 2009 Dec 21
|
||
doi: 10.1016/j.ejcts.2009.11.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20022521" target="_blank">20022521</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aortic%20arch%20interruption%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 (12)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29703780">Prenatal Diagnosis of Distal Aortopulmonary Window With Type A Aortic Arch Interruption With 4-Dimensional Spatiotemporal Image Correlation Rendering.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vaidyanathan B,
|
||
Vijayaraghavan A,
|
||
Karmagaraj B,
|
||
Kottayil B</span><br />
|
||
<span class="medgenPMjournal">Circ Cardiovasc Imaging</span>
|
||
2018 May;11(5):e007721.
|
||
doi: 10.1161/CIRCIMAGING.118.007721.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29703780" target="_blank">29703780</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24060690">Favourable anatomy after end-to-side repair of interrupted aortic arch.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu JY,
|
||
Jones B,
|
||
Cheung MM,
|
||
Galati JC,
|
||
Koleff J,
|
||
Konstantinov IE,
|
||
Grigg LE,
|
||
Brizard CP,
|
||
d'Udekem Y</span><br />
|
||
<span class="medgenPMjournal">Heart Lung Circ</span>
|
||
2014 Mar;23(3):256-64.
|
||
Epub 2013 Aug 30
|
||
doi: 10.1016/j.hlc.2013.08.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24060690" target="_blank">24060690</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15919313">Repair of truncus arteriosus and aortic arch interruption: outcome analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miyamoto T,
|
||
Sinzobahamvya N,
|
||
Kumpikaite D,
|
||
Asfour B,
|
||
Photiadis J,
|
||
Brecher AM,
|
||
Urban AE</span><br />
|
||
<span class="medgenPMjournal">Ann Thorac Surg</span>
|
||
2005 Jun;79(6):2077-82.
|
||
doi: 10.1016/j.athoracsur.2004.11.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15919313" target="_blank">15919313</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9030796">Repair of aortic arch interruption by direct anastomosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bogers AJ,
|
||
Contant CM,
|
||
Hokken RB,
|
||
Cromme-Dijkhuis AH</span><br />
|
||
<span class="medgenPMjournal">Eur J Cardiothorac Surg</span>
|
||
1997 Jan;11(1):100-4.
|
||
doi: 10.1016/s1010-7940(96)01024-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9030796" target="_blank">9030796</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/46943">A palliative operation for all types of aortic arch interruption in the neonate.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jones EL,
|
||
Plauth WH,
|
||
Hatcher CR Jr</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
1975 Apr;69(4):579-84.
|
||
<span class="bold">PMID: </span><a href="/pubmed/46943" target="_blank">46943</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aortic%20arch%20interruption%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 (23)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39019788">Echocardiographic features and pathological ultrastructural characteristics of fetal interruption of aortic arch.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guan H,
|
||
Wang X,
|
||
Zhou Q,
|
||
Tian L,
|
||
Yang Z,
|
||
Yang S</span><br />
|
||
<span class="medgenPMjournal">Zhong Nan Da Xue Xue Bao Yi Xue Ban</span>
|
||
2024 Apr 28;49(4):595-602.
|
||
doi: 10.11817/j.issn.1672-7347.2024.230527.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39019788" target="_blank">39019788</a><a href="/pmc/articles/PMC11255185" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34797332">Interventional treatment for acute cerebral infarction with large vessel occlusion combined with aortic arch interruption: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang W,
|
||
Xing W,
|
||
Zhu M,
|
||
Zhong X,
|
||
He J</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2021 Nov 19;100(46):e27879.
|
||
doi: 10.1097/MD.0000000000027879.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34797332" target="_blank">34797332</a><a href="/pmc/articles/PMC8601316" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29703780">Prenatal Diagnosis of Distal Aortopulmonary Window With Type A Aortic Arch Interruption With 4-Dimensional Spatiotemporal Image Correlation Rendering.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vaidyanathan B,
|
||
Vijayaraghavan A,
|
||
Karmagaraj B,
|
||
Kottayil B</span><br />
|
||
<span class="medgenPMjournal">Circ Cardiovasc Imaging</span>
|
||
2018 May;11(5):e007721.
|
||
doi: 10.1161/CIRCIMAGING.118.007721.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29703780" target="_blank">29703780</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27130951">Reoperation for right ventricular outflow tract obstruction after arterial switch operation for transposition of the great arteries and aortic arch obstruction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bokenkamp R,
|
||
Aguilar E,
|
||
van der Palen RL,
|
||
Sojak V,
|
||
Bruggemans EF,
|
||
Hruda J,
|
||
Kuipers IM,
|
||
Hazekamp MG</span><br />
|
||
<span class="medgenPMjournal">Eur J Cardiothorac Surg</span>
|
||
2016 May;49(5):e91-6.
|
||
doi: 10.1093/ejcts/ezw026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27130951" target="_blank">27130951</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15919313">Repair of truncus arteriosus and aortic arch interruption: outcome analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miyamoto T,
|
||
Sinzobahamvya N,
|
||
Kumpikaite D,
|
||
Asfour B,
|
||
Photiadis J,
|
||
Brecher AM,
|
||
Urban AE</span><br />
|
||
<span class="medgenPMjournal">Ann Thorac Surg</span>
|
||
2005 Jun;79(6):2077-82.
|
||
doi: 10.1016/j.athoracsur.2004.11.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15919313" target="_blank">15919313</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Aortic%20arch%20interruption%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 (7)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
|
||
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|
||
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|
||
|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2299" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Aortic%20arch%20interruption" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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