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<meta name="keywords" content="C0238397, anatomical abnormality, artery stenoses, pulmonary, artery stenosis, pulmonary, narrowing of lung artery, pulmonary artery stenoses, pulmonary artery stenosis, stenoses, pulmonary artery, stenosis, pulmonary artery, 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="An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Pulmonary artery stenosis (Concept Id: C0238397)
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<!--
UID=65965
ConceptID=C0238397
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Pulmonary artery stenosis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65965</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)&#10;Click for more information.">C0238397</a></dd><dt><span class="dotprefix"></span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Artery Stenoses, Pulmonary; Artery Stenosis, Pulmonary; Pulmonary Artery Stenoses; Pulmonary Artery Stenosis; Stenoses, Pulmonary Artery; Stenosis, Pulmonary Artery</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Pulmonary artery stenosis (95441000)</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:0004415">HP:0004415</a></td></tr>
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<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">An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet 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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0238397[DISCUI]&amp;test_type=Clinical&amp;redirect=true" ref="ncbi_uid=65965">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=65965" ref="ncbi_uid=65965">V</a></span></span><span class="TLline">Pulmonary artery stenosis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/116727" ref="tree=MeSH" title="MedGen record for Abnormality of the cardiovascular system">Abnormality of the cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/892473" ref="tree=MeSH" title="MedGen record for Abnormal cardiovascular system morphology">Abnormal cardiovascular system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/927608" ref="tree=MeSH" title="MedGen record for Abnormal vascular morphology">Abnormal vascular morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1778737" ref="tree=MeSH" title="MedGen record for Abnormal blood vessel morphology">Abnormal blood vessel morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1375454" ref="tree=MeSH" title="MedGen record for Abnormal morphology of the great vessels">Abnormal morphology of the great vessels</a></span><ul><li><span class="TLline"><a href="/medgen/1379288" ref="tree=MeSH" title="MedGen record for Abnormal pulmonary artery morphology">Abnormal pulmonary artery morphology</a></span><ul><li><span class="matched_ds">Pulmonary artery stenosis</span><ul><li><span class="TLline"><a href="/medgen/473521" ref="tree=MeSH" title="MedGen record for Branch Pulmonary Artery Stenosis">Branch Pulmonary Artery Stenosis</a></span></li><li><span class="TLline"><a href="/medgen/472996" ref="tree=MeSH" title="MedGen record for Congenital stenosis of pulmonary artery">Congenital stenosis of pulmonary artery</a></span></li><li><span class="TLline"><a href="/medgen/138014" ref="tree=MeSH" title="MedGen record for Peripheral pulmonary artery stenosis">Peripheral pulmonary artery stenosis</a></span></li><li><span class="TLline"><a href="/medgen/760489" ref="tree=MeSH" title="MedGen record for Supravalvular Pulmonary Artery Stenosis">Supravalvular Pulmonary Artery Stenosis</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_2001"><div><strong>Supravalvar aortic stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2001</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)&#10;Click for more information.">C0003499</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). Some people with SVAS also have defects in other blood vessels, most commonly stenosis of the artery from the heart to the lungs (the pulmonary artery). An abnormal heart sound during a heartbeat (heart murmur) can often be heard during a chest exam. If SVAS is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and ultimately heart failure.\n\nThe severity of SVAS varies considerably, even among family members. Some affected individuals die in infancy, while others never experience symptoms of the disorder.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2001">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_4385"><div><strong>Down syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4385</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)&#10;Click for more information.">C0013080</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate.\n\nPeople with Down syndrome often have a characteristic facial appearance that includes a flattened appearance to the face, outside corners of the eyes that point upward (upslanting palpebral fissures), small ears, a short neck, and a tongue that tends to stick out of the mouth. Affected individuals may have a variety of birth defects. Many people with Down syndrome have small hands and feet and a single crease across the palms of the hands. About half of all affected children are born with a heart defect. Digestive abnormalities, such as a blockage of the intestine, are less common.\n\nIndividuals with Down syndrome have an increased risk of developing several medical conditions. These include gastroesophageal reflux, which is a backflow of acidic stomach contents into the esophagus, and celiac disease, which is an intolerance of a wheat protein called gluten. About 15 percent of people with Down syndrome have an underactive thyroid gland (hypothyroidism). The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. Individuals with Down syndrome also have an increased risk of hearing and vision problems. Additionally, a small percentage of children with Down syndrome develop cancer of blood-forming cells (leukemia).\n\nDelayed development and behavioral problems are often reported in children with Down syndrome. Affected individuals can have growth problems and their speech and language develop later and more slowly than in children without Down syndrome. Additionally, speech may be difficult to understand in individuals with Down syndrome. Behavioral issues can include attention problems, obsessive/compulsive behavior, and stubbornness or tantrums. A small percentage of people with Down syndrome are also diagnosed with developmental conditions called autism spectrum disorders, which affect communication and social interaction.\n\nPeople with Down syndrome often experience a gradual decline in thinking ability (cognition) as they age, usually starting around age 50. Down syndrome is also associated with an increased risk of developing Alzheimer's disease, a brain disorder that results in a gradual loss of memory, judgment, and ability to function. Approximately half of adults with Down syndrome develop Alzheimer's disease. Although Alzheimer's disease is usually a disorder that occurs in older adults, people with Down syndrome commonly develop this condition earlier, in their fifties or sixties.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/4385">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_208652"><div><strong>Cholestasis-pigmentary retinopathy-cleft palate syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208652</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)&#10;Click for more information.">C0795969</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. HS has been described in females with cleft lip and/or cleft palate, biliary and liver anomalies, intestinal malrotation, pigmentary retinopathy, and coarctation of the aorta. Developmental and cognitive concerns have not been reported in females with HS. Pathogenic variants in MED12 have been reported in an increasing number of males and females with NSID, with affected individuals often having clinical features identified in other MED12-related disorders.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/208652">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341214"><div><strong>CHIME syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341214</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)&#10;Click for more information.">C1848392</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">CHIME syndrome, also known as Zunich neuroectodermal syndrome, is an extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME). Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties (summary by Ng et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.&#13; For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341214">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_340513"><div><strong>Autosomal recessive omodysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340513</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)&#10;Click for more information.">C1850318</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Omodysplasia-1 (OMOD1) is a rare autosomal recessive skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin. Variable findings are cryptorchidism, hernias, congenital heart defects, and cognitive delay (Elcioglu et al., 2004; Albano et al., 2007).&#13; Genetic Heterogeneity of Omodysplasia&#13; Also see omodysplasia-2 (OMOD2; 164745), an autosomal dominant form of the disorder in which abnormalities are limited to the upper limbs. The facial changes and typical growth defect of the distal humerus with complex deformity of the elbows appear to be similar in both entities (Baxova et al., 1994).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/340513">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_344290"><div><strong>Noonan syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344290</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)&#10;Click for more information.">C1854469</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/344290">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341067"><div><strong>Mowat-Wilson syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341067</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)&#10;Click for more information."><span class="highlight" style="background-color:">C1856113</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with a central depression), congenital heart defects with predilection for abnormalities of the pulmonary arteries and/or valves, Hirschsprung disease or chronic constipation, genitourinary anomalies (particularly hypospadias in males), and hypogenesis or agenesis of the corpus callosum. Most affected individuals have moderate-to-severe intellectual disability. Speech is typically limited to a few words or is absent, with relative preservation of receptive language skills. Growth restriction with microcephaly and seizure disorder are also common. Most affected people have a happy demeanor and a wide-based gait that can sometimes be confused with Angelman syndrome.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341067">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_347942"><div><strong>Arterial tortuosity syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347942</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)&#10;Click for more information.">C1859726</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Arterial tortuosity syndrome (ATS) is characterized by widespread elongation and tortuosity of the aorta and mid-sized arteries as well as focal stenosis of segments of the pulmonary arteries and/or aorta combined with findings of a generalized connective tissue disorder, which may include soft or doughy hyperextensible skin, joint hypermobility, inguinal hernia, and diaphragmatic hernia. Skeletal findings include pectus excavatum or carinatum, arachnodactyly, scoliosis, knee/elbow contractures, and camptodactyly. The cardiovascular system is the major source of morbidity and mortality with increased risk at any age for aneurysm formation and dissection both at the aortic root and throughout the arterial tree, and for ischemic vascular events involving cerebrovascular circulation (resulting in non-hemorrhagic stroke) and the abdominal arteries (resulting in infarctions of abdominal organs).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/347942">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_393406"><div><strong>Compton-North congenital myopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393406</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)&#10;Click for more information.">C2675527</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Congenital myopathy-12 (CMYO12) is an autosomal recessive disorder characterized by severe neonatal hypotonia resulting in feeding difficulties and respiratory failure within the first months of life. There is evidence of the disorder in utero, with decreased fetal movements and polyhydramnios. Additional features may include high-arched palate and contractures. Skeletal muscle biopsy shows myopathic changes with disrupted sarcomeres and minicore-like structures (Compton et al., 2008).&#13; For a discussion of genetic heterogeneity of congenital myopathy, see CMYO1A (117000).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/393406">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_394528"><div><strong>SERKAL syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394528</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)&#10;Click for more information.">C2678492</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Syndrome that has characteristics of female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. The syndrome is lethal and has been described in three fetuses. It is caused by homozygous missense mutations in the WNT4 gene. It is transmitted as an autosomal recessive trait.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/394528">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)&#10;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)&#10;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_477078"><div><strong>Ogden syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477078</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)&#10;Click for more information.">C3275447</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Ogden syndrome (OGDNS) is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Many patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/477078">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_482415"><div><strong>Ventricular septal defect 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482415</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)&#10;Click for more information.">C3280785</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14 to 16% of cardiac defects that require invasive treatment within the first year of life. Congenital VSDs may occur alone or in combination with other cardiac malformations. Large VSDs that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death (summary by Wang et al., 2011, 2011).&#13; Other congenital cardiac defects caused by mutation in the NKX2-5 gene include atrial septal defect with or without atrioventricular conduction defects (ASD7; 108900), tetralogy of Fallot (see TOF, 187500), conotruncal malformations (see 217095), and hypoplastic left heart syndrome (HLHS2; 614435).&#13; For a discussion of genetic heterogeneity of ventricular septal defect, see VSD1 (614429).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/482415">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_761920"><div><strong>Primary ciliary dyskinesia 20</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>761920</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)&#10;Click for more information.">C3540844</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">CILD20 is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from immotile cilia and defective clearance. Patients may also have situs inversus or cardiac anomalies. Electron microscopy of respiratory epithelial cells shows absence of the outer dynein arms. Unlike other forms of CILD, patients with CILD20 do not appear to be infertile.&#13; For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/761920">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_903483"><div><strong>Acrofacial dysostosis Cincinnati type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>903483</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)&#10;Click for more information.">C4225317</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015). In addition, a significant number of neurologic abnormalities have been reported, ranging from mild delays to refractory epilepsy, as well as an increased incidence of congenital heart defects, primarily septal in nature (Smallwood et al., 2023).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/903483">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_930741"><div><strong>X-linked intellectual disability, van Esch type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>930741</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)&#10;Click for more information.">C4305072</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Van Esch-O'Driscoll syndrome (VEODS) is characterized by varying degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations (Van Esch et al., 2019).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/930741">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934623"><div><strong>Immunodeficiency 49</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934623</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)&#10;Click for more information.">C4310656</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934623">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1392054"><div><strong>Intellectual disability, X-linked, syndromic, 35</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1392054</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)&#10;Click for more information.">C4478383</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/1392054">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1635567"><div><strong>Adams-Oliver syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1635567</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)&#10;Click for more information.">C4551482</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Adams-Oliver syndrome is a rare condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in people with Adams-Oliver syndrome.\n\nMost people with Adams-Oliver syndrome have aplasia cutis congenita, a condition characterized by localized areas of missing skin typically occurring on the top of the head (the skull vertex). In some cases, the bone under the skin is also underdeveloped. Individuals with this condition commonly have scarring and an absence of hair growth in the affected area.\n\nAbnormalities of the hands and feet are also common in people with Adams-Oliver syndrome. These most often involve the fingers and toes and can include abnormal nails, fingers or toes that are fused together (syndactyly), and abnormally short or missing fingers or toes (brachydactyly or oligodactyly). In some cases, other bones in the hands, feet, or lower limbs are malformed or missing.\n\nIn some cases, people with Adams-Oliver syndrome have neurological problems, such as developmental delay, learning disabilities, or abnormalities in the structure of the brain.\n\nSome affected infants have a condition called cutis marmorata telangiectatica congenita. This disorder of the blood vessels causes a reddish or purplish net-like pattern on the skin. In addition, people with Adams-Oliver syndrome can develop high blood pressure in the blood vessels between the heart and the lungs (pulmonary hypertension), which can be life-threatening. Other blood vessel problems and heart defects can occur in affected individuals.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1635567">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1846991"><div><strong>Developmental and epileptic encephalopathy 111</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1846991</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)&#10;Click for more information.">C5882690</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Developmental and epileptic encephalopathy-111 (DEE111) is an autosomal recessive severe neurologic disorder characterized by early-onset refractory seizures, global developmental delay, hypotonia, impaired gross motor development, impaired intellectual development, and absent speech. Most patients have macrocephaly. Brain imaging shows frontal, parietal, and perisylvian polymicrogyria, dysmorphic basal ganglia and corpus callosum, and hypoplastic pons. Additional features may include feeding difficulties, poor vision with ocular anomalies, congenital cardiac abnormalities, and recurrent infections associated with neutropenia. Death in early childhood may occur (Ververi et al., 2023).&#13; For a discussion of genetic heterogeneity of DEE, see 308350.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1846991">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1855399"><div><strong>Seckel syndrome 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1855399</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)&#10;Click for more information.">C5935595</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Seckel syndrome-11 (SCKL11) is characterized by severe primary microcephaly, short stature, developmental delay, impaired intellectual development, facial dysmorphisms, and digital abnormalities (Li et al., 2024).&#13; For a general phenotypic description and discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1855399">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_903483" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrofacial dysostosis Cincinnati type</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344290" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 2</a></div>
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<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/32081565">Treatment approach to unilateral branch pulmonary artery stenosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hiremath G,
Qureshi AM,
Meadows J,
Aggarwal V</span><br />
<span class="medgenPMjournal">Trends Cardiovasc Med</span>
2021 Apr;31(3):179-184.
Epub 2020 Feb 10
doi: 10.1016/j.tcm.2020.02.001.
<span class="bold">PMID: </span><a href="/pubmed/32081565" target="_blank">32081565</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32053544">Treatment of Peripheral Pulmonary Artery Stenosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kim CW,
Aronow WS,
Dutta T,
Spevack DM,
Frishman WH</span><br />
<span class="medgenPMjournal">Cardiol Rev</span>
2021 May-Jun 01;29(3):115-119.
doi: 10.1097/CRD.0000000000000300.
<span class="bold">PMID: </span><a href="/pubmed/32053544" target="_blank">32053544</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21934706">Alagille syndrome: pathogenesis, diagnosis and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Turnpenny PD,
Ellard S</span><br />
<span class="medgenPMjournal">Eur J Hum Genet</span>
2012 Mar;20(3):251-7.
Epub 2011 Sep 21
doi: 10.1038/ejhg.2011.181.
<span class="bold">PMID: </span><a href="/pubmed/21934706" target="_blank">21934706</a><a href="/pmc/articles/PMC3283172" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22pulmonary%20artery%20stenosis%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 (34)</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/38123291">Special Considerations and Techniques of Interventions in Lung Transplant Recipients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kim DH,
Gilyard S,
Suh R</span><br />
<span class="medgenPMjournal">Tech Vasc Interv Radiol</span>
2023 Dec;26(4):100926.
Epub 2023 Oct 22
doi: 10.1016/j.tvir.2023.100926.
<span class="bold">PMID: </span><a href="/pubmed/38123291" target="_blank">38123291</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37718587">Multimodality imaging and hybrid treatment of pulmonary artery stenosis in a patient with high risk of airway compression.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Szeliga J,
Kołcz J,
Piwowarczyk B,
Góreczny S</span><br />
<span class="medgenPMjournal">Kardiol Pol</span>
2023;81(11):1151-1152.
Epub 2023 Sep 18
doi: 10.33963/v.kp.97211.
<span class="bold">PMID: </span><a href="/pubmed/37718587" target="_blank">37718587</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34014807">Bedside Detection and Follow-Up of Pulmonary Artery Stenosis after Lung Transplantation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zarantonello F,
Sella N,
Pettenuzzo T,
Andreatta G,
Dell'Amore A,
Giraudo C,
Rea F,
Navalesi P</span><br />
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
2021 Nov 1;204(9):1100-1102.
doi: 10.1164/rccm.202101-0229IM.
<span class="bold">PMID: </span><a href="/pubmed/34014807" target="_blank">34014807</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30790443">Catheter based treatments for fibrosing mediastinitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fender EA,
Widmer RJ,
Knavel Koepsel EM,
Welby JP,
Kern R,
Peikert T,
Bjarnason H,
Holmes DR Jr</span><br />
<span class="medgenPMjournal">Catheter Cardiovasc Interv</span>
2019 Nov 15;94(6):878-885.
Epub 2019 Feb 21
doi: 10.1002/ccd.28152.
<span class="bold">PMID: </span><a href="/pubmed/30790443" target="_blank">30790443</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21444051">Aortopulmonary window.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Barnes ME,
Mitchell ME,
Tweddell JS</span><br />
<span class="medgenPMjournal">Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu</span>
2011;14(1):67-74.
doi: 10.1053/j.pcsu.2011.01.017.
<span class="bold">PMID: </span><a href="/pubmed/21444051" target="_blank">21444051</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pulmonary%20artery%20stenosis%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 (414)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/34235716">When Takayasu mimics pulmonary hypertension - severe pulmonary artery stenosis - what to do?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Polak M,
Grabka M,
Wróbel W,
Woźniak-Skowerska I,
Mizia-Stec K</span><br />
<span class="medgenPMjournal">Kardiol Pol</span>
2021;79(9):1046-1047.
Epub 2021 Jul 8
doi: 10.33963/KP.a2021.0059.
<span class="bold">PMID: </span><a href="/pubmed/34235716" target="_blank">34235716</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31831301">Ductal stenting and pulmonary artery stenosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Betrián Blasco P,
Marti Aguasca G,
Ferrer Menduiña Q</span><br />
<span class="medgenPMjournal">Rev Esp Cardiol (Engl Ed)</span>
2020 Jul;73(7):578.
Epub 2019 Dec 10
doi: 10.1016/j.rec.2019.10.014.
<span class="bold">PMID: </span><a href="/pubmed/31831301" target="_blank">31831301</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30449420">Pulmonary Artery Stenting.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zablah JE,
Morgan GJ</span><br />
<span class="medgenPMjournal">Interv Cardiol Clin</span>
2019 Jan;8(1):33-46.
Epub 2018 Oct 25
doi: 10.1016/j.iccl.2018.08.005.
<span class="bold">PMID: </span><a href="/pubmed/30449420" target="_blank">30449420</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21934706">Alagille syndrome: pathogenesis, diagnosis and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Turnpenny PD,
Ellard S</span><br />
<span class="medgenPMjournal">Eur J Hum Genet</span>
2012 Mar;20(3):251-7.
Epub 2011 Sep 21
doi: 10.1038/ejhg.2011.181.
<span class="bold">PMID: </span><a href="/pubmed/21934706" target="_blank">21934706</a><a href="/pmc/articles/PMC3283172" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21444051">Aortopulmonary window.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Barnes ME,
Mitchell ME,
Tweddell JS</span><br />
<span class="medgenPMjournal">Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu</span>
2011;14(1):67-74.
doi: 10.1053/j.pcsu.2011.01.017.
<span class="bold">PMID: </span><a href="/pubmed/21444051" target="_blank">21444051</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pulmonary%20artery%20stenosis%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 (357)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/39056453">Invited Commentary: Pulmonary Artery Stenosis After the Arterial Switch Operation: Ounces of Prevention Better Than Pounds of Cure.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hermenson JL,
Anagnostopoulos PV</span><br />
<span class="medgenPMjournal">World J Pediatr Congenit Heart Surg</span>
2024 Jul;15(4):430-431.
doi: 10.1177/21501351241249111.
<span class="bold">PMID: </span><a href="/pubmed/39056453" target="_blank">39056453</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38123291">Special Considerations and Techniques of Interventions in Lung Transplant Recipients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kim DH,
Gilyard S,
Suh R</span><br />
<span class="medgenPMjournal">Tech Vasc Interv Radiol</span>
2023 Dec;26(4):100926.
Epub 2023 Oct 22
doi: 10.1016/j.tvir.2023.100926.
<span class="bold">PMID: </span><a href="/pubmed/38123291" target="_blank">38123291</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38043991">3D Transesophageal Echocardiography and Pseudo Pulmonary Artery Stenosis in Lung Transplantation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Allen WL,
Fritz AV,
Martin AK</span><br />
<span class="medgenPMjournal">Mayo Clin Proc</span>
2023 Dec;98(12):1753-1754.
doi: 10.1016/j.mayocp.2023.06.012.
<span class="bold">PMID: </span><a href="/pubmed/38043991" target="_blank">38043991</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34014807">Bedside Detection and Follow-Up of Pulmonary Artery Stenosis after Lung Transplantation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zarantonello F,
Sella N,
Pettenuzzo T,
Andreatta G,
Dell'Amore A,
Giraudo C,
Rea F,
Navalesi P</span><br />
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
2021 Nov 1;204(9):1100-1102.
doi: 10.1164/rccm.202101-0229IM.
<span class="bold">PMID: </span><a href="/pubmed/34014807" target="_blank">34014807</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30790443">Catheter based treatments for fibrosing mediastinitis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fender EA,
Widmer RJ,
Knavel Koepsel EM,
Welby JP,
Kern R,
Peikert T,
Bjarnason H,
Holmes DR Jr</span><br />
<span class="medgenPMjournal">Catheter Cardiovasc Interv</span>
2019 Nov 15;94(6):878-885.
Epub 2019 Feb 21
doi: 10.1002/ccd.28152.
<span class="bold">PMID: </span><a href="/pubmed/30790443" target="_blank">30790443</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pulmonary%20artery%20stenosis%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 (220)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36120760">Numerical analysis of hemodynamics in pulmonary artery stenosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">He F,
Wang X,
Hua L,
Guo T</span><br />
<span class="medgenPMjournal">Biomed Mater Eng</span>
2023;34(3):235-246.
doi: 10.3233/BME-221418.
<span class="bold">PMID: </span><a href="/pubmed/36120760" target="_blank">36120760</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34014807">Bedside Detection and Follow-Up of Pulmonary Artery Stenosis after Lung Transplantation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zarantonello F,
Sella N,
Pettenuzzo T,
Andreatta G,
Dell'Amore A,
Giraudo C,
Rea F,
Navalesi P</span><br />
<span class="medgenPMjournal">Am J Respir Crit Care Med</span>
2021 Nov 1;204(9):1100-1102.
doi: 10.1164/rccm.202101-0229IM.
<span class="bold">PMID: </span><a href="/pubmed/34014807" target="_blank">34014807</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32461258">Imaging large arteries after arterial switch operation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">van Broekhoven I,
Kroft LJM,
van der Palen RLF</span><br />
<span class="medgenPMjournal">Heart</span>
2020 Jun;106(12):891-950.
doi: 10.1136/heartjnl-2019-316504.
<span class="bold">PMID: </span><a href="/pubmed/32461258" target="_blank">32461258</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29448832">Bland or tumor pulmonary artery stump thrombosis?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gorospe L,
Jover-Díaz R,
Muñoz-Molina GM</span><br />
<span class="medgenPMjournal">Asian Cardiovasc Thorac Ann</span>
2018 Feb;26(2):164-165.
Epub 2018 Feb 15
doi: 10.1177/0218492318759351.
<span class="bold">PMID: </span><a href="/pubmed/29448832" target="_blank">29448832</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21444051">Aortopulmonary window.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Barnes ME,
Mitchell ME,
Tweddell JS</span><br />
<span class="medgenPMjournal">Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu</span>
2011;14(1):67-74.
doi: 10.1053/j.pcsu.2011.01.017.
<span class="bold">PMID: </span><a href="/pubmed/21444051" target="_blank">21444051</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pulmonary%20artery%20stenosis%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 (280)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38777780">RNF213-Related Vasculopathy: Various Systemic Vascular Diseases Involving RNF213 Gene Mutations: Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Murai Y,
Matano F,
Kubota A,
Nounaka Y,
Ishisaka E,
Shirokane K,
Koketsu K,
Nakae R,
Tamaki T</span><br />
<span class="medgenPMjournal">J Nippon Med Sch</span>
2024;91(2):140-145.
doi: 10.1272/jnms.JNMS.2024_91-215.
<span class="bold">PMID: </span><a href="/pubmed/38777780" target="_blank">38777780</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38061784">Adult-onset idiopathic peripheral pulmonary artery stenosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tamura Y,
Tamura Y,
Shigeta A,
Hosokawa K,
Taniguchi Y,
Inami T,
Adachi S,
Tsujino I,
Nakanishi N,
Sato K,
Sakamoto J,
Tanabe N,
Takama N,
Nakamura K,
Kubota K,
Komura N,
Kato S,
Yamashita J,
Takei M,
Joho S,
Ishii S,
Takemura R,
Sugimura K,
Tatsumi K</span><br />
<span class="medgenPMjournal">Eur Respir J</span>
2023 Dec;62(6)
Epub 2023 Dec 21
doi: 10.1183/13993003.00763-2023.
<span class="bold">PMID: </span><a href="/pubmed/38061784" target="_blank">38061784</a><a href="/pmc/articles/PMC10733597" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32740377">An update on sarcoidosis-associated pulmonary hypertension.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bandyopadhyay D,
Humbert M</span><br />
<span class="medgenPMjournal">Curr Opin Pulm Med</span>
2020 Sep;26(5):582-590.
doi: 10.1097/MCP.0000000000000701.
<span class="bold">PMID: </span><a href="/pubmed/32740377" target="_blank">32740377</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32461258">Imaging large arteries after arterial switch operation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">van Broekhoven I,
Kroft LJM,
van der Palen RLF</span><br />
<span class="medgenPMjournal">Heart</span>
2020 Jun;106(12):891-950.
doi: 10.1136/heartjnl-2019-316504.
<span class="bold">PMID: </span><a href="/pubmed/32461258" target="_blank">32461258</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29448832">Bland or tumor pulmonary artery stump thrombosis?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gorospe L,
Jover-Díaz R,
Muñoz-Molina GM</span><br />
<span class="medgenPMjournal">Asian Cardiovasc Thorac Ann</span>
2018 Feb;26(2):164-165.
Epub 2018 Feb 15
doi: 10.1177/0218492318759351.
<span class="bold">PMID: </span><a href="/pubmed/29448832" target="_blank">29448832</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pulmonary%20artery%20stenosis%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 (143)</a></div></div>
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<div class="portlet mgSection" id="ID_104">
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<div class="nl"><a target="_blank" href="/pubmed/38258453">The effects of percutaneous branch pulmonary artery interventions on exercise capacity, lung perfusion, and right ventricular function in biventricular CHD: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Joosen RS,
Frissen JPB,
van den Hoogen A,
Krings GJ,
Voskuil M,
Slieker MG,
Breur JMPJ</span><br />
<span class="medgenPMjournal">Cardiol Young</span>
2024 Mar;34(3):473-482.
Epub 2024 Jan 23
doi: 10.1017/S1047951124000015.
<span class="bold">PMID: </span><a href="/pubmed/38258453" target="_blank">38258453</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37724575">Treatment of hypoplastic left heart syndrome: a systematic review and meta-analysis of randomised controlled trials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kim AY,
Woo W,
Saxena A,
Tanidir IC,
Yao A,
Kurniawati Y,
Thakur V,
Shin YR,
Shin JI,
Jung JW,
Barron DJ;
International HLHS research network collaborators</span><br />
<span class="medgenPMjournal">Cardiol Young</span>
2024 Mar;34(3):659-666.
Epub 2023 Sep 19
doi: 10.1017/S1047951123002986.
<span class="bold">PMID: </span><a href="/pubmed/37724575" target="_blank">37724575</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33947262">Refractory pleural effusion as a rare complication of pulmonary vascular stenosis induced by fibrosing mediastinitis: a case report and literature review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yang S,
Wang J,
Li J,
Huang K,
Yang Y</span><br />
<span class="medgenPMjournal">J Int Med Res</span>
2021 May;49(5):3000605211010073.
doi: 10.1177/03000605211010073.
<span class="bold">PMID: </span><a href="/pubmed/33947262" target="_blank">33947262</a><a href="/pmc/articles/PMC8113940" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33760790">Evaluating the Impact of Pulmonary Artery Obstruction After Lung Transplant Surgery: A Systematic Review and Meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar N,
Hussain N,
Kumar J,
Essandoh MK,
Bhatt AM,
Awad H,
Perez WJ,
Whitson BA,
Ganapathi AM,
Mokadam NA,
Gorelik L,
Turner K,
Iyer MH</span><br />
<span class="medgenPMjournal">Transplantation</span>
2021 Apr 1;105(4):711-722.
doi: 10.1097/TP.0000000000003407.
<span class="bold">PMID: </span><a href="/pubmed/33760790" target="_blank">33760790</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30732204">Pulmonary vascular involvement of IgG4-related disease: Case series with a PRISMA-compliant systemic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou Y,
Shao L,
Ruan W,
Jin J,
Xu H,
Ying K,
Wu X</span><br />
<span class="medgenPMjournal">Medicine (Baltimore)</span>
2019 Feb;98(6):e14437.
doi: 10.1097/MD.0000000000014437.
<span class="bold">PMID: </span><a href="/pubmed/30732204" target="_blank">30732204</a><a href="/pmc/articles/PMC6380675" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pulmonary%20artery%20stenosis%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 (5)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0238397%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
<li><a href="/gtr/tests?term=C0238397%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Pulmonary%20artery%20stenosis" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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