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<meta name="keywords" content="C5774226, adamts19, cardiac valvular dysplasia 2, cvdp2, disease or syndrome, 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="Cardiac valvular dysplasia-2 (CVDP2) is characterized primarily by congenital stenosis and insufficiency of the semilunar valves, although mild insufficiency of the atrioventricular valves has been observed as well. Other features include subaortic stenosis and dilation of the ascending aorta and/or pulmonary artery in some patients (Wunnemann et al., 2020; Massadeh et al., 2020).&#13; For a discussion of genetic heterogeneity of CVDP, see CVDP1 (212093)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Cardiac valvular dysplasia 2 (Concept Id: C5774226)
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<!--
UID=1823999
ConceptID=C5774226
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cardiac valvular dysplasia 2<span class="h1sub">(CVDP2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823999</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:">C5774226</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>CVDP2</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
Gene(s) directly associated with<br />
this condition or phenotype.</div></td>
<td><a target="_blank" title="ADAMTS19 - ID: 171019 - NCBI Gene" href="/gene/171019" class="medgenPMinfo">ADAMTS19</a> (5q23.3)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0859572" target="_blank">MONDO:0859572</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/620067" target="_blank">620067</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">Cardiac valvular dysplasia-2 (CVDP2) is characterized primarily by congenital stenosis and insufficiency of the semilunar valves, although mild insufficiency of the atrioventricular valves has been observed as well. Other features include subaortic stenosis and dilation of the ascending aorta and/or pulmonary artery in some patients (Wunnemann et al., 2020; Massadeh et al., 2020).&#13; For a discussion of genetic heterogeneity of CVDP, see CVDP1 (212093). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_2992"><div><strong>Chest pain</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2992</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.">C0008031</a></dd><dt><span class="dotprefix"></span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2992">Feature record</a> | <a href="/medgen?term=%22Chest%20pain%22%5BClinical%20Features%5D%20OR%202992%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_8153"><div><strong>Aortic regurgitation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8153</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.">C0003504</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/8153">Feature record</a> | <a href="/medgen?term=%22Aortic%20regurgitation%22%5BClinical%20Features%5D%20OR%208153%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_9171"><div><strong>Heart murmur</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9171</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.">C0018808</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/9171">Feature record</a> | <a href="/medgen?term=%22Heart%20murmur%22%5BClinical%20Features%5D%20OR%209171%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_14579"><div><strong>Palpitations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14579</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.">C0030252</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/14579">Feature record</a> | <a href="/medgen?term=%22Palpitations%22%5BClinical%20Features%5D%20OR%2014579%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_11031"><div><strong>Pulmonary valve insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11031</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.">C0034088</a></dd><dt><span class="dotprefix"></span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/11031">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20valve%20insufficiency%22%5BClinical%20Features%5D%20OR%2011031%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_11911"><div><strong>Tricuspid regurgitation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11911</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.">C0040961</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/11911">Feature record</a> | <a href="/medgen?term=%22Tricuspid%20regurgitation%22%5BClinical%20Features%5D%20OR%2011911%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57436"><div><strong>Bicuspid aortic valve</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57436</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.">C0149630</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta (Tan et al., 2012; Luyckx et al., 2019; Park et al., 2019).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57436">Feature record</a> | <a href="/medgen?term=%22Bicuspid%20aortic%20valve%22%5BClinical%20Features%5D%20OR%2057436%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_115909"><div><strong>Systolic heart murmur</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115909</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.">C0232257</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/115909">Feature record</a> | <a href="/medgen?term=%22Systolic%20heart%20murmur%22%5BClinical%20Features%5D%20OR%20115909%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_90950"><div><strong>Subvalvular aortic stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90950</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.">C0340375</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/90950">Feature record</a> | <a href="/medgen?term=%22Subvalvular%20aortic%20stenosis%22%5BClinical%20Features%5D%20OR%2090950%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_140900"><div><strong>Pulmonary artery dilatation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140900</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.">C0428851</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal widening of the diameter of the pulmonary artery.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/140900">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20artery%20dilatation%22%5BClinical%20Features%5D%20OR%20140900%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_163631"><div><strong>Ascending tubular aorta aneurysm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163631</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.">C0856747</a></dd><dt><span class="dotprefix"></span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/163631">Feature record</a> | <a href="/medgen?term=%22Ascending%20tubular%20aorta%20aneurysm%22%5BClinical%20Features%5D%20OR%20163631%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_696562"><div><strong>Left ventricular diastolic dysfunction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>696562</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.">C1273070</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Abnormal function of the left ventricule during left ventricular relaxation and filling.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/696562">Feature record</a> | <a href="/medgen?term=%22Left%20ventricular%20diastolic%20dysfunction%22%5BClinical%20Features%5D%20OR%20696562%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_355656"><div><strong>Dysplastic aortic valve</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355656</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.">C1866207</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A congenital malformation of the aortic valve characterized by leaflet deformation.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/355656">Feature record</a> | <a href="/medgen?term=%22Dysplastic%20aortic%20valve%22%5BClinical%20Features%5D%20OR%20355656%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_408291"><div><strong>Pulmonic stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>408291</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.">C1956257</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/408291">Feature record</a> | <a href="/medgen?term=%22Pulmonic%20stenosis%22%5BClinical%20Features%5D%20OR%20408291%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1660169"><div><strong>Increased left ventricular end-diastolic volume</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1660169</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.">C4748648</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1660169">Feature record</a> | <a href="/medgen?term=%22Increased%20left%20ventricular%20end-diastolic%20volume%22%5BClinical%20Features%5D%20OR%201660169%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_636837"><div><strong>Central cyanosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>636837</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.">C0521800</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Generalized bluish discoloration of the body and the visible mucous membranes, which occurs due to inadequate oxygenation secondary to conditions that lead to an increase in deoxygenated hemoglobin or presence of abnormal hemoglobin.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/636837">Feature record</a> | <a href="/medgen?term=%22Central%20cyanosis%22%5BClinical%20Features%5D%20OR%20636837%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8153" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aortic regurgitation</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163631" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ascending tubular aorta aneurysm</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57436" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bicuspid aortic valve</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_355656" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysplastic aortic valve</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9171" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heart murmur</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1660169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased left ventricular end-diastolic volume</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_696562" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Left ventricular diastolic dysfunction</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14579" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Palpitations</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140900" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary artery dilatation</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11031" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary valve insufficiency</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_408291" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonic stenosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_90950" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Subvalvular aortic stenosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115909" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Systolic heart murmur</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11911" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tricuspid regurgitation</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_636837" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Central cyanosis</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2992" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chest pain</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<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="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1003688" ref="tree=GTR&amp;ncbi_uid=1003688&amp;link_uid=1003688" title="View MedGen record for 'Cardiac valvular defect'">Cardiac valvular defect</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5774175[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1823949">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1823949" target="_blank" href="/omim/212093">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1823949" ref="ncbi_uid=1823949">V</a></span></span><span class="TLline"><a href="/medgen/1823949" ref="tree=GTR&amp;ncbi_uid=1823949&amp;link_uid=1823949" title="View MedGen record for 'Cardiac valvular defect, developmental'">Cardiac valvular defect, developmental</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1823999" target="_blank" href="/omim/607513">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1823999" ref="ncbi_uid=1823999">V</a></span></span><span class="TLline">Cardiac valvular dysplasia 2</span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1003688" ref="tree=MeSH" title="MedGen record for Cardiac valvular defect">Cardiac valvular defect</a></span><ul><li><span class="matched_ds">Cardiac valvular dysplasia 2</span></li></ul></li></ul></div></div></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/34643321">Genotype-cardiac phenotype correlations in a large single-center cohort of patients affected by RASopathies: Clinical implications and literature review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Leoni C,
Blandino R,
Delogu AB,
De Rosa G,
Onesimo R,
Verusio V,
Marino MV,
Lanza GA,
Rigante D,
Tartaglia M,
Zampino G</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2022 Feb;188(2):431-445.
Epub 2021 Oct 13
doi: 10.1002/ajmg.a.62529.
<span class="bold">PMID: </span><a href="/pubmed/34643321" target="_blank">34643321</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22965402">Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term outcome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Latchford AR,
Neale K,
Phillips RK,
Clark SK</span><br />
<span class="medgenPMjournal">Dis Colon Rectum</span>
2012 Oct;55(10):1038-43.
doi: 10.1097/DCR.0b013e31826278b3.
<span class="bold">PMID: </span><a href="/pubmed/22965402" target="_blank">22965402</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21415077">Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Allali S,
Le Goff C,
Pressac-Diebold I,
Pfennig G,
Mahaut C,
Dagoneau N,
Alanay Y,
Brady AF,
Crow YJ,
Devriendt K,
Drouin-Garraud V,
Flori E,
Geneviève D,
Hennekam RC,
Hurst J,
Krakow D,
Le Merrer M,
Lichtenbelt KD,
Lynch SA,
Lyonnet S,
MacDermot K,
Mansour S,
Megarbané A,
Santos HG,
Splitt M,
Superti-Furga A,
Unger S,
Williams D,
Munnich A,
Cormier-Daire V</span><br />
<span class="medgenPMjournal">J Med Genet</span>
2011 Jun;48(6):417-21.
Epub 2011 Mar 17
doi: 10.1136/jmg.2010.087544.
<span class="bold">PMID: </span><a href="/pubmed/21415077" target="_blank">21415077</a><a href="/pmc/articles/PMC4413937" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(cardiac%20valvular%20dysplasia%202)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (3)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/34643321">Genotype-cardiac phenotype correlations in a large single-center cohort of patients affected by RASopathies: Clinical implications and literature review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Leoni C,
Blandino R,
Delogu AB,
De Rosa G,
Onesimo R,
Verusio V,
Marino MV,
Lanza GA,
Rigante D,
Tartaglia M,
Zampino G</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2022 Feb;188(2):431-445.
Epub 2021 Oct 13
doi: 10.1002/ajmg.a.62529.
<span class="bold">PMID: </span><a href="/pubmed/34643321" target="_blank">34643321</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33899201">Immediate results of balloon valvuloplasty in congenital pulmonary valve stenosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bouhlel I,
Ajmi H,
Slim M,
Gribaa R,
Naffati E</span><br />
<span class="medgenPMjournal">Tunis Med</span>
2021 Feb;99(2):291-297.
<span class="bold">PMID: </span><a href="/pubmed/33899201" target="_blank">33899201</a><a href="/pmc/articles/PMC8715795" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23647591">Functional tricuspid regurgitation: an underestimated issue.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Di Mauro M,
Bezante GP,
Di Baldassarre A,
Clemente D,
Cardinali A,
Acitelli A,
Salerni S,
Penco M,
Calafiore AM,
Gallina S;
Italian Study Group on Valvular Heart Disease Italian Society of Cardiology</span><br />
<span class="medgenPMjournal">Int J Cardiol</span>
2013 Sep 30;168(2):707-15.
Epub 2013 May 3
doi: 10.1016/j.ijcard.2013.04.043.
<span class="bold">PMID: </span><a href="/pubmed/23647591" target="_blank">23647591</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21879649">Preoperative preparation of patients with cardiomyopathies in non-cardiac surgery.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bradić Z,
Ivanović B,
Marković D,
Simić D,
Janković R,
Kalezić N</span><br />
<span class="medgenPMjournal">Acta Chir Iugosl</span>
2011;58(2):39-43.
doi: 10.2298/aci1102039b.
<span class="bold">PMID: </span><a href="/pubmed/21879649" target="_blank">21879649</a></div>
<div class="nl"><a target="_blank" href="/pubmed/145833">Surgical management of congenital pulmonary valve dysplasia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Watkins L Jr,
Donahoo JS,
Harrington D,
Haller JA Jr,
Neill CA</span><br />
<span class="medgenPMjournal">Ann Thorac Surg</span>
1977 Dec;24(6):498-507.
doi: 10.1016/s0003-4975(10)63448-0.
<span class="bold">PMID: </span><a href="/pubmed/145833" target="_blank">145833</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiac%20valvular%20dysplasia%202%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 (22)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/34643321">Genotype-cardiac phenotype correlations in a large single-center cohort of patients affected by RASopathies: Clinical implications and literature review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Leoni C,
Blandino R,
Delogu AB,
De Rosa G,
Onesimo R,
Verusio V,
Marino MV,
Lanza GA,
Rigante D,
Tartaglia M,
Zampino G</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2022 Feb;188(2):431-445.
Epub 2021 Oct 13
doi: 10.1002/ajmg.a.62529.
<span class="bold">PMID: </span><a href="/pubmed/34643321" target="_blank">34643321</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33063582">Tricuspid Valve Dysplasia at Fetal Autopsy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Shanmugam S,
Sennaiyan UN,
Krishna MR</span><br />
<span class="medgenPMjournal">Fetal Pediatr Pathol</span>
2022 Jun;41(3):529-532.
Epub 2020 Oct 16
doi: 10.1080/15513815.2020.1831665.
<span class="bold">PMID: </span><a href="/pubmed/33063582" target="_blank">33063582</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23647591">Functional tricuspid regurgitation: an underestimated issue.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Di Mauro M,
Bezante GP,
Di Baldassarre A,
Clemente D,
Cardinali A,
Acitelli A,
Salerni S,
Penco M,
Calafiore AM,
Gallina S;
Italian Study Group on Valvular Heart Disease Italian Society of Cardiology</span><br />
<span class="medgenPMjournal">Int J Cardiol</span>
2013 Sep 30;168(2):707-15.
Epub 2013 May 3
doi: 10.1016/j.ijcard.2013.04.043.
<span class="bold">PMID: </span><a href="/pubmed/23647591" target="_blank">23647591</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21879649">Preoperative preparation of patients with cardiomyopathies in non-cardiac surgery.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bradić Z,
Ivanović B,
Marković D,
Simić D,
Janković R,
Kalezić N</span><br />
<span class="medgenPMjournal">Acta Chir Iugosl</span>
2011;58(2):39-43.
doi: 10.2298/aci1102039b.
<span class="bold">PMID: </span><a href="/pubmed/21879649" target="_blank">21879649</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11225599">Exercise-induced neurocardiogenic syncope: clinical data, pathophysiological aspects, and potential role of tilt table testing.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kosinski D,
Grubb BP,
Karas BJ,
Frederick S</span><br />
<span class="medgenPMjournal">Europace</span>
2000 Jan;2(1):77-82.
doi: 10.1053/eupc.1999.0065.
<span class="bold">PMID: </span><a href="/pubmed/11225599" target="_blank">11225599</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiac%20valvular%20dysplasia%202%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 (20)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/32657137">Long-Term Outcome After Ventricular Tachycardia Ablation in Nonischemic Cardiomyopathy: Late Potential Abolition and VT Noninducibility.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Okubo K,
Gigli L,
Trevisi N,
Foppoli L,
Radinovic A,
Bisceglia C,
Frontera A,
D'Angelo G,
Cireddu M,
Paglino G,
Mazzone P,
Della Bella P</span><br />
<span class="medgenPMjournal">Circ Arrhythm Electrophysiol</span>
2020 Aug;13(8):e008307.
Epub 2020 Jul 12
doi: 10.1161/CIRCEP.119.008307.
<span class="bold">PMID: </span><a href="/pubmed/32657137" target="_blank">32657137</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30380204">Melody valve in mitral position: Complete fracture causing acute mitral stenosis in a child.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Morrical BD,
Dearani JA,
Cabalka AK</span><br />
<span class="medgenPMjournal">Catheter Cardiovasc Interv</span>
2019 Feb 1;93(2):E101-E104.
Epub 2018 Oct 31
doi: 10.1002/ccd.27683.
<span class="bold">PMID: </span><a href="/pubmed/30380204" target="_blank">30380204</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27363399">Identification of fetal cardiac anatomy and hemodynamics: a novel enhanced screening protocol.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Y,
Cai AL,
Ren WD,
Guo YJ,
Zhang DY,
Sun W,
Wang Y,
Wang L,
Qin Y,
Huang LP</span><br />
<span class="medgenPMjournal">BMC Pregnancy Childbirth</span>
2016 Jun 30;16:145.
doi: 10.1186/s12884-016-0933-9.
<span class="bold">PMID: </span><a href="/pubmed/27363399" target="_blank">27363399</a><a href="/pmc/articles/PMC4928259" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23124041">A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lee T,
Takeshima Y,
Okizuka Y,
Hamahira K,
Kusunoki N,
Awano H,
Yagi M,
Sakai N,
Matsuo M,
Iijima K</span><br />
<span class="medgenPMjournal">Gene</span>
2013 Jan 10;512(2):456-9.
Epub 2012 Nov 2
doi: 10.1016/j.gene.2012.10.060.
<span class="bold">PMID: </span><a href="/pubmed/23124041" target="_blank">23124041</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18672167">Functional status after operation for Ebstein anomaly: the Mayo Clinic experience.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Brown ML,
Dearani JA,
Danielson GK,
Cetta F,
Connolly HM,
Warnes CA,
Li Z,
Hodge DO,
Driscoll DJ</span><br />
<span class="medgenPMjournal">J Am Coll Cardiol</span>
2008 Aug 5;52(6):460-6.
doi: 10.1016/j.jacc.2008.03.064.
<span class="bold">PMID: </span><a href="/pubmed/18672167" target="_blank">18672167</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiac%20valvular%20dysplasia%202%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 (7)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/33899201">Immediate results of balloon valvuloplasty in congenital pulmonary valve stenosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bouhlel I,
Ajmi H,
Slim M,
Gribaa R,
Naffati E</span><br />
<span class="medgenPMjournal">Tunis Med</span>
2021 Feb;99(2):291-297.
<span class="bold">PMID: </span><a href="/pubmed/33899201" target="_blank">33899201</a><a href="/pmc/articles/PMC8715795" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24251637">Novel mutations in geleophysic dysplasia type 1.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Porayette P,
Fruitman D,
Lauzon JL,
Le Goff C,
Cormier-Daire V,
Sanders SP,
Pinto-Rojas A,
Perez-Atayde AR</span><br />
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
2014 May-Jun;17(3):209-16.
Epub 2013 Nov 19
doi: 10.2350/13-08-1370-CR.1.
<span class="bold">PMID: </span><a href="/pubmed/24251637" target="_blank">24251637</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9158161">Atrio-ventricular valve dysplasia in 22 newborn infants.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bonnet D,
Saygili A,
Bonhoeffer P,
Fermont L,
Sidi D,
Kachaner J</span><br />
<span class="medgenPMjournal">Int J Cardiol</span>
1997 Apr 18;59(2):113-8.
doi: 10.1016/s0167-5273(97)02937-9.
<span class="bold">PMID: </span><a href="/pubmed/9158161" target="_blank">9158161</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8834693">Time-domain signal-averaged electrocardiogram in nonischemic ventricular tachycardia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fauchier JP,
Fauchier L,
Babuty D,
Cosnay P</span><br />
<span class="medgenPMjournal">Pacing Clin Electrophysiol</span>
1996 Feb;19(2):231-44.
doi: 10.1111/j.1540-8159.1996.tb03315.x.
<span class="bold">PMID: </span><a href="/pubmed/8834693" target="_blank">8834693</a></div>
<div class="nl"><a target="_blank" href="/pubmed/7681563">Clinical efficacy and safety of the new cardioverter defibrillator systems.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Trappe HJ,
Klein H,
Fieguth HG,
Kielblock B,
Wenzlaff P,
Lichtlen PR</span><br />
<span class="medgenPMjournal">Pacing Clin Electrophysiol</span>
1993 Jan;16(1 Pt 2):153-8.
doi: 10.1111/j.1540-8159.1993.tb01553.x.
<span class="bold">PMID: </span><a href="/pubmed/7681563" target="_blank">7681563</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiac%20valvular%20dysplasia%202%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 (14)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/34643321">Genotype-cardiac phenotype correlations in a large single-center cohort of patients affected by RASopathies: Clinical implications and literature review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Leoni C,
Blandino R,
Delogu AB,
De Rosa G,
Onesimo R,
Verusio V,
Marino MV,
Lanza GA,
Rigante D,
Tartaglia M,
Zampino G</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2022 Feb;188(2):431-445.
Epub 2021 Oct 13
doi: 10.1002/ajmg.a.62529.
<span class="bold">PMID: </span><a href="/pubmed/34643321" target="_blank">34643321</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33899201">Immediate results of balloon valvuloplasty in congenital pulmonary valve stenosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bouhlel I,
Ajmi H,
Slim M,
Gribaa R,
Naffati E</span><br />
<span class="medgenPMjournal">Tunis Med</span>
2021 Feb;99(2):291-297.
<span class="bold">PMID: </span><a href="/pubmed/33899201" target="_blank">33899201</a><a href="/pmc/articles/PMC8715795" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32657137">Long-Term Outcome After Ventricular Tachycardia Ablation in Nonischemic Cardiomyopathy: Late Potential Abolition and VT Noninducibility.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Okubo K,
Gigli L,
Trevisi N,
Foppoli L,
Radinovic A,
Bisceglia C,
Frontera A,
D'Angelo G,
Cireddu M,
Paglino G,
Mazzone P,
Della Bella P</span><br />
<span class="medgenPMjournal">Circ Arrhythm Electrophysiol</span>
2020 Aug;13(8):e008307.
Epub 2020 Jul 12
doi: 10.1161/CIRCEP.119.008307.
<span class="bold">PMID: </span><a href="/pubmed/32657137" target="_blank">32657137</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8834693">Time-domain signal-averaged electrocardiogram in nonischemic ventricular tachycardia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fauchier JP,
Fauchier L,
Babuty D,
Cosnay P</span><br />
<span class="medgenPMjournal">Pacing Clin Electrophysiol</span>
1996 Feb;19(2):231-44.
doi: 10.1111/j.1540-8159.1996.tb03315.x.
<span class="bold">PMID: </span><a href="/pubmed/8834693" target="_blank">8834693</a></div>
<div class="nl"><a target="_blank" href="/pubmed/2632827">Mechanism and prediction of sudden cardiac death in arrhythmia patients using electrophysiological studies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kasanuki H,
Ohnishi S,
Tanaka E,
Hirosawa K</span><br />
<span class="medgenPMjournal">Jpn Circ J</span>
1989 Dec;53(12):1565-70.
doi: 10.1253/jcj.53.1565.
<span class="bold">PMID: </span><a href="/pubmed/2632827" target="_blank">2632827</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiac%20valvular%20dysplasia%202%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 (11)</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=(cardiac%20valvular%20dysplasia%202)%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(%22Cardiac%20valvular%20dysplasia%202%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></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/cardiac_valvular_dysplasia_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Cardiac%20valvular%20dysplasia%202" target="_blank">MedlinePlus</a></li></ul></div>
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