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<meta name="keywords" content="C0241654, abnormal heart valve morphology, abnormality of the heart valves, finding, valvular abnormalities, valvular abnormality, valvular heart disease, 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="Any structural abnormality of a cardiac valve." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Abnormal heart valve morphology (Concept Id: C0241654)
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<!--
UID=892837
ConceptID=C0241654
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal heart valve morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892837</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.">C0241654</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>Valvular abnormalities</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:0001654">HP:0001654</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">Any structural abnormality of a cardiac valve. [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="TLline">Abnormal heart valve morphology</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/2848" ref="tree=MeSH" title="MedGen record for Disorder of cardiovascular system">Disorder of cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/116727" ref="tree=MeSH" title="MedGen record for Abnormality of the cardiovascular system">Abnormality of the cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/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/6748" ref="tree=MeSH" title="MedGen record for Abnormal heart morphology">Abnormal heart morphology</a></span><ul><li><span class="matched_ds">Abnormal heart valve morphology</span><ul><li><span class="TLline"><a href="/medgen/488999" ref="tree=MeSH" title="MedGen record for Abnormal aortic valve morphology">Abnormal aortic valve morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1623463" ref="tree=MeSH" title="MedGen record for Abnormal aortic valve cusp morphology">Abnormal aortic valve cusp morphology</a></span><ul><li><span class="TLline"><a href="/medgen/756741" ref="tree=MeSH" title="MedGen record for Absent aortic valve cusps">Absent aortic valve cusps</a></span></li><li><span class="TLline"><a href="/medgen/57436" ref="tree=MeSH" title="MedGen record for Bicuspid aortic valve">Bicuspid aortic valve</a></span></li><li><span class="TLline"><a href="/medgen/576685" ref="tree=MeSH" title="MedGen record for Quadricuspid aortic valve">Quadricuspid aortic valve</a></span></li><li><span class="TLline"><a href="/medgen/1613159" ref="tree=MeSH" title="MedGen record for Thickened aortic valve cusp">Thickened aortic valve cusp</a></span></li><li><span class="TLline"><a href="/medgen/576684" ref="tree=MeSH" title="MedGen record for Unicuspid aortic valve">Unicuspid aortic valve</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/451016" ref="tree=MeSH" title="MedGen record for Aortic valve atresia">Aortic valve atresia</a></span></li><li><span class="TLline"><a href="/medgen/1619" ref="tree=MeSH" title="MedGen record for Aortic valve prolapse">Aortic valve prolapse</a></span></li><li><span class="TLline"><a href="/medgen/355656" ref="tree=MeSH" title="MedGen record for Dysplastic aortic valve">Dysplastic aortic valve</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870547" ref="tree=MeSH" title="MedGen record for Abnormal atrioventricular valve morphology">Abnormal atrioventricular valve morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871272" ref="tree=MeSH" title="MedGen record for Abnormal mitral valve morphology">Abnormal mitral valve morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1625860" ref="tree=MeSH" title="MedGen record for Abnormal mitral valve annulus morphology">Abnormal mitral valve annulus morphology</a></span></li><li><span class="TLline"><a href="/medgen/1615176" ref="tree=MeSH" title="MedGen record for Abnormal mitral valve leaflet morphology">Abnormal mitral valve leaflet morphology</a></span></li><li><span class="TLline"><a href="/medgen/1381439" ref="tree=MeSH" title="MedGen record for Abnormal morphology of the chordae tendinae of the mitral valve">Abnormal morphology of the chordae tendinae of the mitral valve</a></span></li><li><span class="TLline"><a href="/medgen/1626683" ref="tree=MeSH" title="MedGen record for Dilatation of the mitral annulus">Dilatation of the mitral annulus</a></span></li><li><span class="TLline"><a href="/medgen/488869" ref="tree=MeSH" title="MedGen record for Double orifice mitral valve">Double orifice mitral valve</a></span></li><li><span class="TLline"><a href="/medgen/866791" ref="tree=MeSH" title="MedGen record for Mitral valve arcade">Mitral valve arcade</a></span></li><li><span class="TLline"><a href="/medgen/7671" ref="tree=MeSH" title="MedGen record for Mitral valve prolapse">Mitral valve prolapse</a></span></li><li><span class="TLline"><a href="/medgen/866790" ref="tree=MeSH" title="MedGen record for Supramitral ring">Supramitral ring</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/871267" ref="tree=MeSH" title="MedGen record for Abnormal tricuspid valve morphology">Abnormal tricuspid valve morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1623683" ref="tree=MeSH" title="MedGen record for Abnormal tricuspid chordae tendinae morphology">Abnormal tricuspid chordae tendinae morphology</a></span></li><li><span class="TLline"><a href="/medgen/1623542" ref="tree=MeSH" title="MedGen record for Abnormal tricuspid valve annulus morphology">Abnormal tricuspid valve annulus morphology</a></span></li><li><span class="TLline"><a href="/medgen/1624499" ref="tree=MeSH" title="MedGen record for Abnormal tricuspid valve leaflet morphology">Abnormal tricuspid valve leaflet morphology</a></span></li><li><span class="TLline"><a href="/medgen/901243" ref="tree=MeSH" title="MedGen record for Dysplastic tricuspid valve">Dysplastic tricuspid valve</a></span></li><li><span class="TLline"><a href="/medgen/4435" ref="tree=MeSH" title="MedGen record for Ebstein anomaly">Ebstein anomaly</a></span></li><li><span class="TLline"><a href="/medgen/472995" ref="tree=MeSH" title="MedGen record for Hypoplastic tricuspid valve">Hypoplastic tricuspid valve</a></span></li><li><span class="TLline"><a href="/medgen/1053063" ref="tree=MeSH" title="MedGen record for Thickened tricuspid valve cusp">Thickened tricuspid valve cusp</a></span></li><li><span class="TLline"><a href="/medgen/67034" ref="tree=MeSH" title="MedGen record for Tricuspid atresia">Tricuspid atresia</a></span></li><li><span class="TLline"><a href="/medgen/11912" ref="tree=MeSH" title="MedGen record for Tricuspid valve prolapse">Tricuspid valve prolapse</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868882" ref="tree=MeSH" title="MedGen record for Imperforate atrioventricular valve">Imperforate atrioventricular valve</a></span><ul><li><span class="TLline"><a href="/medgen/868881" ref="tree=MeSH" title="MedGen record for Imperforate tricuspid valve">Imperforate tricuspid valve</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/488998" ref="tree=MeSH" title="MedGen record for Abnormal pulmonary valve morphology">Abnormal pulmonary valve morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1623853" ref="tree=MeSH" title="MedGen record for Abnormal pulmonary valve cusp morphology">Abnormal pulmonary valve cusp morphology</a></span><ul><li><span class="TLline"><a href="/medgen/87493" ref="tree=MeSH" title="MedGen record for Bicuspid pulmonary valve">Bicuspid pulmonary valve</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78575" ref="tree=MeSH" title="MedGen record for Absence of the pulmonary valve">Absence of the pulmonary valve</a></span><ul><li><span class="TLline"><a href="/medgen/488963" ref="tree=MeSH" title="MedGen record for Tetralogy of Fallot with absent pulmonary valve">Tetralogy of Fallot with absent pulmonary valve</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/576665" ref="tree=MeSH" title="MedGen record for Dysplastic pulmonary valve">Dysplastic pulmonary valve</a></span></li><li><span class="TLline"><a href="/medgen/116684" ref="tree=MeSH" title="MedGen record for Pulmonary valve atresia">Pulmonary valve atresia</a></span><ul><li><span class="TLline"><a href="/medgen/87491" ref="tree=MeSH" title="MedGen record for Pulmonary atresia with intact ventricular septum">Pulmonary atresia with intact ventricular septum</a></span></li><li><span class="TLline"><a href="/medgen/87492" ref="tree=MeSH" title="MedGen record for Pulmonary atresia with ventricular septal defect">Pulmonary atresia with ventricular septal defect</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/348039" ref="tree=MeSH" title="MedGen record for Pulmonary valve defects">Pulmonary valve defects</a></span></li><li><span class="TLline"><a href="/medgen/870554" ref="tree=MeSH" title="MedGen record for Pulmonic valve myxoma">Pulmonic valve myxoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1864342" ref="tree=MeSH" title="MedGen record for Cardiac valve vegetations">Cardiac valve vegetations</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_7734"><div><strong>Mucopolysaccharidosis, MPS-II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7734</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:">C0026705</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation. The vast majority of affected individuals are male; on rare occasion heterozygous females manifest findings. Age of onset, disease severity, and rate of progression vary significantly among affected males. In those with the neuronopathic phenotype, central nervous system (CNS) involvement (manifesting primarily as progressive cognitive deterioration), progressive airway disease, and cardiac disease usually results in death in the first or second decade of life. In those with the non-neuronopathic phenotype, the CNS is minimally or not affected. However, the effect of GAG accumulation on other organ systems can be severe. Survival into the early adult years with normal intelligence is common in the non-neuronopathic phenotype. Additional findings in neuronopathic and non-neuronopathic MPS II include: short stature, macrocephaly with or without communicating hydrocephalus, macroglossia, hoarse voice, conductive and sensorineural hearing loss, dysostosis multiplex, spinal stenosis, carpal tunnel syndrome, and hepatosplenomegaly.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/7734">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_43108"><div><strong>Mucopolysaccharidosis type 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43108</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.">C0085132</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Individuals with mucopolysaccharidosis type VII (MPS VII) can present perinatally with early demise, nonimmune hydrops fetalis, cholestatic jaundice, and hepatosplenomegaly, or in early childhood with developmental delay and characteristic musculoskeletal features (e.g., short neck, short-trunk short stature, pectus deformity, gibbus, and joint stiffness/contractures) and craniofacial features (e.g., macrocephaly, coarse hair, coarse facies, corneal clouding, and macroglossia). Skeletal survey shows features of dysostosis multiplex including thickened cortical bone, abnormal J-shaped sella turcica, paddle- or oar-shaped ribs, short, thickened clavicles, platyspondyly with anterior beaking of the lower thoracic and lumbar vertebrae, and proximal pointing of the metacarpals and metatarsals. Complications include developmental delay, intellectual disability, hepatosplenomegaly, spinal stenosis, recurrent otitis media, hearing loss, pulmonary disease, obstructive sleep apnea, hernias, feeding difficulties, and heart valve disease.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/43108">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_43375"><div><strong>Mucopolysaccharidosis, MPS-IV-A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43375</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.">C0086651</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The phenotypic spectrum of mucopolysaccharidosis IVA (MPS IVA) is a continuum that ranges from a severe and rapidly progressive early-onset form to a slowly progressive later-onset form. Children with MPS IVA typically have no distinctive clinical findings at birth. The severe form is usually apparent between ages one and three years, often first manifesting as kyphoscoliosis, genu valgum (knock-knee), and pectus carinatum; the slowly progressive form may not become evident until late childhood or adolescence, often first manifesting as hip problems (pain, stiffness, and Legg Perthes disease). Progressive bone and joint involvement leads to short stature, and eventually to disabling pain and arthritis. Involvement of other organ systems can lead to significant morbidity, including respiratory compromise, obstructive sleep apnea, valvular heart disease, hearing impairment, visual impairment from corneal clouding, dental abnormalities, and hepatomegaly. Compression of the spinal cord is a common complication that results in neurologic impairment. Children with MPS IVA have normal intellectual abilities at the outset of the disease.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/43375">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_75665"><div><strong>Infantile GM1 gangliosidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75665</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.">C0268271</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">GLB1-related disorders comprise two phenotypically distinct lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharidosis type IVB (MPS IVB). The phenotype of GM1 gangliosidosis constitutes a spectrum ranging from severe (infantile) to intermediate (late-infantile and juvenile) to mild (chronic/adult). Type I (infantile) GM1 gangliosidosis begins before age 12 months. Prenatal manifestations may include nonimmune hydrops fetalis, intrauterine growth restriction, and placental vacuolization; congenital dermal melanocytosis (Mongolian spots) may be observed. Macular cherry-red spot is detected on eye exam. Progressive central nervous system dysfunction leads to spasticity and rapid regression; blindness, deafness, decerebrate rigidity, seizures, feeding difficulties, and oral secretions are observed. Life expectancy is two to three years. Type II can be subdivided into the late-infantile (onset age 1-3 years) and juvenile (onset age 3-10 years) phenotypes. Central nervous system dysfunction manifests as progressive cognitive, motor, and speech decline as measured by psychometric testing. There may be mild corneal clouding, hepatosplenomegaly, and/or cardiomyopathy; the typical course is characterized by progressive neurologic decline, progressive skeletal disease in some individuals (including kyphosis and avascular necrosis of the femoral heads), and progressive feeding difficulties leading to aspiration risk. Type III begins in late childhood to the third decade with generalized dystonia leading to unsteady gait and speech disturbance followed by extrapyramidal signs including akinetic-rigid parkinsonism. Cardiomyopathy develops in some and skeletal involvement occurs in most. Intellectual impairment is common late in the disease with prognosis directly related to the degree of neurologic impairment. MPS IVB is characterized by skeletal dysplasia with specific findings of axial and appendicular dysostosis multiplex, short stature (below 15th centile in adults), kyphoscoliosis, coxa/genu valga, joint laxity, platyspondyly, and odontoid hypoplasia. First signs and symptoms may be apparent at birth. Bony involvement is progressive, with more than 84% of adults requiring ambulation aids; life span does not appear to be limited. Corneal clouding is detected in some individuals and cardiac valvular disease may develop.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/75665">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75665" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile GM1 gangliosidosis</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_43108" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis type 7</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_7734" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis, MPS-II</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_43375" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis, MPS-IV-A</a></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/36829083">Calcific aortic valve disease: mechanisms, prevention and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Moncla LM,
Briend M,
Bossé Y,
Mathieu P</span><br />
<span class="medgenPMjournal">Nat Rev Cardiol</span>
2023 Aug;20(8):546-559.
Epub 2023 Feb 24
doi: 10.1038/s41569-023-00845-7.
<span class="bold">PMID: </span><a href="/pubmed/36829083" target="_blank">36829083</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32022400">Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Linglart L,
Gelb BD</span><br />
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
2020 Mar;184(1):73-80.
Epub 2020 Feb 5
doi: 10.1002/ajmg.c.31765.
<span class="bold">PMID: </span><a href="/pubmed/32022400" target="_blank">32022400</a><a href="/pmc/articles/PMC7682536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30971417">Heartbeat: Primary care delays in heart failure diagnosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Otto CM</span><br />
<span class="medgenPMjournal">Heart</span>
2019 May;105(9):661-662.
doi: 10.1136/heartjnl-2019-315117.
<span class="bold">PMID: </span><a href="/pubmed/30971417" target="_blank">30971417</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20heart%20valve%20morphology)%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 (197)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.nice.org.uk/guidance/ng208" target="_blank">UK NICE Guideline NG208, Heart valve disease presenting in adults: investigation and management, 2021</a></h3>
</div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/38253300">Bicuspid aortic valve: The most frequent and not so benign congenital heart disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Thiene G,
Rizzo S,
Basso C</span><br />
<span class="medgenPMjournal">Cardiovasc Pathol</span>
2024 May-Jun;70:107604.
Epub 2024 Jan 20
doi: 10.1016/j.carpath.2024.107604.
<span class="bold">PMID: </span><a href="/pubmed/38253300" target="_blank">38253300</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35264416">Bicuspid aortic valve: evolving knowledge and new questions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sun BJ,
Song JK</span><br />
<span class="medgenPMjournal">Heart</span>
2022 Dec 13;109(1):10-17.
doi: 10.1136/heartjnl-2021-320008.
<span class="bold">PMID: </span><a href="/pubmed/35264416" target="_blank">35264416</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32599026">Genetics in bicuspid aortic valve disease: Where are we?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bravo-Jaimes K,
Prakash SK</span><br />
<span class="medgenPMjournal">Prog Cardiovasc Dis</span>
2020 Jul-Aug;63(4):398-406.
Epub 2020 Jun 27
doi: 10.1016/j.pcad.2020.06.005.
<span class="bold">PMID: </span><a href="/pubmed/32599026" target="_blank">32599026</a><a href="/pmc/articles/PMC7530017" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32592707">Transcatheter aortic valve replacement in bicuspid aortic valve stenosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yoon SH,
Webb JG,
Leon MB,
Makkar R</span><br />
<span class="medgenPMjournal">Prog Cardiovasc Dis</span>
2020 Jul-Aug;63(4):482-487.
Epub 2020 Jun 25
doi: 10.1016/j.pcad.2020.06.007.
<span class="bold">PMID: </span><a href="/pubmed/32592707" target="_blank">32592707</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20579534">Bicuspid aortic valve disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Siu SC,
Silversides CK</span><br />
<span class="medgenPMjournal">J Am Coll Cardiol</span>
2010 Jun 22;55(25):2789-800.
doi: 10.1016/j.jacc.2009.12.068.
<span class="bold">PMID: </span><a href="/pubmed/20579534" target="_blank">20579534</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20heart%20valve%20morphology%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 (4169)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39117383">Management of bicuspid aortic valve disease in the transcatheter aortic valve implantation era.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jahangiri M,
Prendergast B</span><br />
<span class="medgenPMjournal">Heart</span>
2024 Oct 28;110(22):1291-1297.
doi: 10.1136/heartjnl-2024-324054.
<span class="bold">PMID: </span><a href="/pubmed/39117383" target="_blank">39117383</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32599026">Genetics in bicuspid aortic valve disease: Where are we?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bravo-Jaimes K,
Prakash SK</span><br />
<span class="medgenPMjournal">Prog Cardiovasc Dis</span>
2020 Jul-Aug;63(4):398-406.
Epub 2020 Jun 27
doi: 10.1016/j.pcad.2020.06.005.
<span class="bold">PMID: </span><a href="/pubmed/32599026" target="_blank">32599026</a><a href="/pmc/articles/PMC7530017" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32592707">Transcatheter aortic valve replacement in bicuspid aortic valve stenosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yoon SH,
Webb JG,
Leon MB,
Makkar R</span><br />
<span class="medgenPMjournal">Prog Cardiovasc Dis</span>
2020 Jul-Aug;63(4):482-487.
Epub 2020 Jun 25
doi: 10.1016/j.pcad.2020.06.007.
<span class="bold">PMID: </span><a href="/pubmed/32592707" target="_blank">32592707</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30447516">Vascular malformation in a bicuspid aortic valve.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cotier P,
Bruneval P,
Amemiya K</span><br />
<span class="medgenPMjournal">Cardiovasc Pathol</span>
2019 Jan-Feb;38:39-41.
Epub 2018 Oct 24
doi: 10.1016/j.carpath.2018.10.006.
<span class="bold">PMID: </span><a href="/pubmed/30447516" target="_blank">30447516</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30274614">Transcatheter Aortic Valve Replacement for Bicuspid Aortic Valve: Challenges and Pitfalls.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yoon SH,
Makkar R</span><br />
<span class="medgenPMjournal">Interv Cardiol Clin</span>
2018 Oct;7(4):477-488.
Epub 2018 Aug 14
doi: 10.1016/j.iccl.2018.06.006.
<span class="bold">PMID: </span><a href="/pubmed/30274614" target="_blank">30274614</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20heart%20valve%20morphology%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 (4798)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/38747246">Transcatheter aortic valve implantation in low-risk tricuspid or bicuspid aortic stenosis: the NOTION-2 trial.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jørgensen TH,
Thyregod HGH,
Savontaus M,
Willemen Y,
Bleie Ø,
Tang M,
Niemela M,
Angerås O,
Gudmundsdóttir IJ,
Sartipy U,
Dagnegaard H,
Laine M,
Rück A,
Piuhola J,
Petursson P,
Christiansen EH,
Malmberg M,
Olsen PS,
Haaverstad R,
Sondergaard L,
De Backer O;
NOTION-2 investigators</span><br />
<span class="medgenPMjournal">Eur Heart J</span>
2024 Oct 5;45(37):3804-3814.
doi: 10.1093/eurheartj/ehae331.
<span class="bold">PMID: </span><a href="/pubmed/38747246" target="_blank">38747246</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35726019">Transcatheter aortic valve implantation in patients with bicuspid valve morphology: a roadmap towards standardization.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Xiong TY,
Ali WB,
Feng Y,
Hayashida K,
Jilaihawi H,
Latib A,
Lee MK,
Leon MB,
Makkar RR,
Modine T,
Naber C,
Peng Y,
Piazza N,
Reardon MJ,
Redwood S,
Seth A,
Sondergaard L,
Tay E,
Tchetche D,
Yin WH,
Chen M,
Prendergast B,
Mylotte D</span><br />
<span class="medgenPMjournal">Nat Rev Cardiol</span>
2023 Jan;20(1):52-67.
Epub 2022 Jun 20
doi: 10.1038/s41569-022-00734-5.
<span class="bold">PMID: </span><a href="/pubmed/35726019" target="_blank">35726019</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31384377">Ebstein's Anomaly.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Holst KA,
Connolly HM,
Dearani JA</span><br />
<span class="medgenPMjournal">Methodist Debakey Cardiovasc J</span>
2019 Apr-Jun;15(2):138-144.
doi: 10.14797/mdcj-15-2-138.
<span class="bold">PMID: </span><a href="/pubmed/31384377" target="_blank">31384377</a><a href="/pmc/articles/PMC6668741" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30391499">Aortic Valve Interventions in Pediatric Patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bouhout I,
Ba PS,
El-Hamamsy I,
Poirier N</span><br />
<span class="medgenPMjournal">Semin Thorac Cardiovasc Surg</span>
2019 Summer;31(2):277-287.
Epub 2018 Nov 2
doi: 10.1053/j.semtcvs.2018.10.009.
<span class="bold">PMID: </span><a href="/pubmed/30391499" target="_blank">30391499</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28958645">Neonatal Ebstein Anomaly.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar TKS,
Boston US,
Knott-Craig CJ</span><br />
<span class="medgenPMjournal">Semin Thorac Cardiovasc Surg</span>
2017 Autumn;29(3):331-337.
Epub 2017 Sep 25
doi: 10.1053/j.semtcvs.2017.09.006.
<span class="bold">PMID: </span><a href="/pubmed/28958645" target="_blank">28958645</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20heart%20valve%20morphology%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 (1340)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38253300">Bicuspid aortic valve: The most frequent and not so benign congenital heart disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Thiene G,
Rizzo S,
Basso C</span><br />
<span class="medgenPMjournal">Cardiovasc Pathol</span>
2024 May-Jun;70:107604.
Epub 2024 Jan 20
doi: 10.1016/j.carpath.2024.107604.
<span class="bold">PMID: </span><a href="/pubmed/38253300" target="_blank">38253300</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34304896">International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Michelena HI,
Della Corte A,
Evangelista A,
Maleszewski JJ,
Edwards WD,
Roman MJ,
Devereux RB,
Fernández B,
Asch FM,
Barker AJ,
Sierra-Galan LM,
De Kerchove L,
Fernandes SM,
Fedak PWM,
Girdauskas E,
Delgado V,
Abbara S,
Lansac E,
Prakash SK,
Bissell MM,
Popescu BA,
Hope MD,
Sitges M,
Thourani VH,
Pibarot P,
Chandrasekaran K,
Lancellotti P,
Borger MA,
Forrest JK,
Webb J,
Milewicz DM,
Makkar R,
Leon MB,
Sanders SP,
Markl M,
Ferrari VA,
Roberts WC,
Song JK,
Blanke P,
White CS,
Siu S,
Svensson LG,
Braverman AC,
Bavaria J,
Sundt TM,
El Khoury G,
De Paulis R,
Enriquez-Sarano M,
Bax JJ,
Otto CM,
Schäfers HJ</span><br />
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
2021 Sep;162(3):e383-e414.
Epub 2021 Jul 22
doi: 10.1016/j.jtcvs.2021.06.019.
<span class="bold">PMID: </span><a href="/pubmed/34304896" target="_blank">34304896</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29409687">Cardiac imaging in Ebstein anomaly.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Qureshi MY,
O'Leary PW,
Connolly HM</span><br />
<span class="medgenPMjournal">Trends Cardiovasc Med</span>
2018 Aug;28(6):403-409.
Epub 2018 Jan 12
doi: 10.1016/j.tcm.2018.01.002.
<span class="bold">PMID: </span><a href="/pubmed/29409687" target="_blank">29409687</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26634032">Quadricuspid Aortic Valve.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schutt RC,
Maragiannis D,
Shah G</span><br />
<span class="medgenPMjournal">Methodist Debakey Cardiovasc J</span>
2015 Jul-Sep;11(3):196.
doi: 10.14797/mdcj-11-3-196.
<span class="bold">PMID: </span><a href="/pubmed/26634032" target="_blank">26634032</a><a href="/pmc/articles/PMC4666431" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20579534">Bicuspid aortic valve disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Siu SC,
Silversides CK</span><br />
<span class="medgenPMjournal">J Am Coll Cardiol</span>
2010 Jun 22;55(25):2789-800.
doi: 10.1016/j.jacc.2009.12.068.
<span class="bold">PMID: </span><a href="/pubmed/20579534" target="_blank">20579534</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38253300">Bicuspid aortic valve: The most frequent and not so benign congenital heart disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Thiene G,
Rizzo S,
Basso C</span><br />
<span class="medgenPMjournal">Cardiovasc Pathol</span>
2024 May-Jun;70:107604.
Epub 2024 Jan 20
doi: 10.1016/j.carpath.2024.107604.
<span class="bold">PMID: </span><a href="/pubmed/38253300" target="_blank">38253300</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37611071">Bicuspid aortic valve: long-term morbidity and mortality.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yang LT,
Ye Z,
Wajih Ullah M,
Maleszewski JJ,
Scott CG,
Padang R,
Pislaru SV,
Nkomo VT,
Mankad SV,
Pellikka PA,
Oh JK,
Roger VL,
Enriquez-Sarano M,
Michelena HI</span><br />
<span class="medgenPMjournal">Eur Heart J</span>
2023 Nov 14;44(43):4549-4562.
doi: 10.1093/eurheartj/ehad477.
<span class="bold">PMID: </span><a href="/pubmed/37611071" target="_blank">37611071</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32592707">Transcatheter aortic valve replacement in bicuspid aortic valve stenosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yoon SH,
Webb JG,
Leon MB,
Makkar R</span><br />
<span class="medgenPMjournal">Prog Cardiovasc Dis</span>
2020 Jul-Aug;63(4):482-487.
Epub 2020 Jun 25
doi: 10.1016/j.pcad.2020.06.007.
<span class="bold">PMID: </span><a href="/pubmed/32592707" target="_blank">32592707</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31384377">Ebstein's Anomaly.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Holst KA,
Connolly HM,
Dearani JA</span><br />
<span class="medgenPMjournal">Methodist Debakey Cardiovasc J</span>
2019 Apr-Jun;15(2):138-144.
doi: 10.14797/mdcj-15-2-138.
<span class="bold">PMID: </span><a href="/pubmed/31384377" target="_blank">31384377</a><a href="/pmc/articles/PMC6668741" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29409687">Cardiac imaging in Ebstein anomaly.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Qureshi MY,
O'Leary PW,
Connolly HM</span><br />
<span class="medgenPMjournal">Trends Cardiovasc Med</span>
2018 Aug;28(6):403-409.
Epub 2018 Jan 12
doi: 10.1016/j.tcm.2018.01.002.
<span class="bold">PMID: </span><a href="/pubmed/29409687" target="_blank">29409687</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20heart%20valve%20morphology%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 (2131)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/30391499">Aortic Valve Interventions in Pediatric Patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bouhout I,
Ba PS,
El-Hamamsy I,
Poirier N</span><br />
<span class="medgenPMjournal">Semin Thorac Cardiovasc Surg</span>
2019 Summer;31(2):277-287.
Epub 2018 Nov 2
doi: 10.1053/j.semtcvs.2018.10.009.
<span class="bold">PMID: </span><a href="/pubmed/30391499" target="_blank">30391499</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29399873">Bicuspid aortic valve morphology and its impact on aortic diameters-A systematic review with meta-analysis and meta-regression.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Miśkowiec D,
Lipiec P,
Szymczyk E,
Wejner-Mik P,
Michalski B,
Kupczyńska K,
Wierzbowska-Drabik K,
Kasprzak JD</span><br />
<span class="medgenPMjournal">Echocardiography</span>
2018 May;35(5):667-677.
Epub 2018 Feb 4
doi: 10.1111/echo.13818.
<span class="bold">PMID: </span><a href="/pubmed/29399873" target="_blank">29399873</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29017405">Outcomes of transcatheter aortic valve replacement for bicuspid aortic stenosis - a systematic review of existing literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Patel SV,
Sonani R,
Singh V,
Patel P,
Badheka A</span><br />
<span class="medgenPMjournal">Expert Rev Pharmacoecon Outcomes Res</span>
2017 Dec;17(6):579-585.
Epub 2017 Oct 16
doi: 10.1080/14737167.2017.1391692.
<span class="bold">PMID: </span><a href="/pubmed/29017405" target="_blank">29017405</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27194004">Impact of Valve Morphology on the Prevalence of Coronary Artery Disease: A Systematic Review and Meta-Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Poggio P,
Cavallotti L,
Songia P,
Di Minno A,
Ambrosino P,
Mammana L,
Parolari A,
Alamanni F,
Tremoli E,
Di Minno MN</span><br />
<span class="medgenPMjournal">J Am Heart Assoc</span>
2016 May 18;5(5)
doi: 10.1161/JAHA.116.003200.
<span class="bold">PMID: </span><a href="/pubmed/27194004" target="_blank">27194004</a><a href="/pmc/articles/PMC4889190" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26353926">Multimodality Imaging Assessment of Prosthetic Heart Valves.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Suchá D,
Symersky P,
Tanis W,
Mali WP,
Leiner T,
van Herwerden LA,
Budde RP</span><br />
<span class="medgenPMjournal">Circ Cardiovasc Imaging</span>
2015 Sep;8(9):e003703.
doi: 10.1161/CIRCIMAGING.115.003703.
<span class="bold">PMID: </span><a href="/pubmed/26353926" target="_blank">26353926</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20heart%20valve%20morphology%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 (37)</a></div></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20heart%20valve%20morphology)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Abnormal%20heart%20valve%20morphology%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.nice.org.uk/guidance/ng208">NICE, 2021</a><div>UK NICE Guideline NG208, Heart valve disease presenting in adults: investigation and management, 2021</div></li></ul></div>
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