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<meta name="keywords" content="C0013481, anomaly, ebstein, anomaly, ebstein's, congenital abnormality, ebstein anomaly, ebstein anomaly (disease), ebstein anomaly of the tricuspid valve, ebstein anomaly of tricuspid valve, ebstein malformation, ebstein malformation of the tricuspid valve, ebstein's anomaly, ebstein's anomaly (disorder) [ambiguous], ebstein's anomaly of common atrioventricular valve, ebstein's anomaly of right atrioventricular valve, ebstein's anomaly of the tricuspid valve, ebstein's anomaly of tricuspid valve, ebstein's malformation, ebstein's malformation of tricuspid valve, ebsteins anomaly, ebsteins malformation, malformation, ebstein's, 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="Ebstein anomaly is characterized by downward displacement of variable severity of the tricuspid valve into the right ventricle. The valve leaflets may be dysplastic, and a variable portion of the proximal part of the right ventricle is in continuity with the right atrium ('atrialized'), because of the abnormally positioned tricuspid valve. The severity of this defect includes a spectrum ranging from severe disturbance in fetal and neonatal life to virtually asymptomatic survival to adult life. Associated extracardiac anomalies in the setting of chromosomal or mendelian disorders occur in about 20% of patients with Ebstein anomaly. Nonsyndromic Ebstein anomaly can occur as a sporadic or a familial defect (summary by Digilio et al., 2011)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=4435
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ConceptID=C0013481
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Ebstein anomaly</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4435</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013481</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Ebstein anomaly of the tricuspid valve; Ebstein's anomaly; Ebstein's anomaly of the tricuspid valve</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Ebstein anomaly of tricuspid valve (204357006); Ebsteins anomaly (204357006); Ebstein's anomaly (204357006); Ebstein's anomaly of tricuspid valve (204357006); Ebstein's malformation of tricuspid valve (204357006)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0010316">HP:0010316</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009144" target="_blank">MONDO:0009144</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/224700" target="_blank">224700</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1880">ORPHA1880</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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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">Ebstein anomaly is characterized by downward displacement of variable severity of the tricuspid valve into the right ventricle. The valve leaflets may be dysplastic, and a variable portion of the proximal part of the right ventricle is in continuity with the right atrium ('atrialized'), because of the abnormally positioned tricuspid valve. The severity of this defect includes a spectrum ranging from severe disturbance in fetal and neonatal life to virtually asymptomatic survival to adult life. Associated extracardiac anomalies in the setting of chromosomal or mendelian disorders occur in about 20% of patients with Ebstein anomaly. Nonsyndromic Ebstein anomaly can occur as a sporadic or a familial defect (summary by Digilio et al., 2011). [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_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.<br /><br />Although babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.<br /><br />Some people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.<br /><br />Each of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.<br /><br />People with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus. <a target="_blank" href="https://medlineplus.gov/genetics/condition/critical-congenital-heart-disease">https://medlineplus.gov/genetics/condition/critical-congenital-heart-disease</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<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_38841"><div><strong>Sudden cardiac death</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>38841</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0085298</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/38841">Feature record</a> | <a href="/medgen?term=%22Sudden%20cardiac%20death%22%5BClinical%20Features%5D%20OR%2038841%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_445"><div><strong>Atrial fibrillation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>445</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0004238</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/445">Feature record</a> | <a href="/medgen?term=%22Atrial%20fibrillation%22%5BClinical%20Features%5D%20OR%20445%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4435"><div><strong>Ebstein anomaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4435</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013481</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ebstein anomaly is characterized by downward displacement of variable severity of the tricuspid valve into the right ventricle. The valve leaflets may be dysplastic, and a variable portion of the proximal part of the right ventricle is in continuity with the right atrium ('atrialized'), because of the abnormally positioned tricuspid valve. The severity of this defect includes a spectrum ranging from severe disturbance in fetal and neonatal life to virtually asymptomatic survival to adult life. Associated extracardiac anomalies in the setting of chromosomal or mendelian disorders occur in about 20% of patients with Ebstein anomaly. Nonsyndromic Ebstein anomaly can occur as a sporadic or a familial defect (summary by Digilio et al., 2011).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/4435">Feature record</a> | <a href="/medgen?term=%22Ebstein%20anomaly%22%5BClinical%20Features%5D%20OR%204435%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_6753"><div><strong>Atrial septal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6753</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0018817</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/6753">Feature record</a> | <a href="/medgen?term=%22Atrial%20septal%20defect%22%5BClinical%20Features%5D%20OR%206753%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_88445"><div><strong>Right bundle branch block</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88445</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0085615</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/88445">Feature record</a> | <a href="/medgen?term=%22Right%20bundle%20branch%20block%22%5BClinical%20Features%5D%20OR%2088445%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_639047"><div><strong>Atrial standstill</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>639047</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0541782</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
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<div class="spaceAbove">Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/639047">Feature record</a> | <a href="/medgen?term=%22Atrial%20standstill%22%5BClinical%20Features%5D%20OR%20639047%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107848"><div><strong>Ventricular preexcitation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107848</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0559106</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/107848">Feature record</a> | <a href="/medgen?term=%22Ventricular%20preexcitation%22%5BClinical%20Features%5D%20OR%20107848%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_445" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial fibrillation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial septal defect</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_639047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial standstill</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4435" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ebstein anomaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_88445" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Right bundle branch block</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107848" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular preexcitation</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_38841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sudden cardiac death</a></span></li></ul></li></ul></div></div>
|
||
</div>
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|
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<div class="portlet mgSection" id="ID_118">
|
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<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><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0013481[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=4435">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=4435" target="_blank" href="/omim/224700">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=4435" ref="ncbi_uid=4435">V</a></span></span><span class="TLline">Ebstein anomaly</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">Ebstein anomaly</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=485&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Ebstein anomaly</span> in Orphanet.</div></div></div>
|
||
</div>
|
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|
||
<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>
|
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<div class="portlet_content ln clinfeat">
|
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<div class="divPopper rprt" id="rdis_4385"><div><strong>Down syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4385</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013080</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate.\n\nPeople with Down syndrome often have a characteristic facial appearance that includes a flattened appearance to the face, outside corners of the eyes that point upward (upslanting palpebral fissures), small ears, a short neck, and a tongue that tends to stick out of the mouth. Affected individuals may have a variety of birth defects. Many people with Down syndrome have small hands and feet and a single crease across the palms of the hands. About half of all affected children are born with a heart defect. Digestive abnormalities, such as a blockage of the intestine, are less common.\n\nIndividuals with Down syndrome have an increased risk of developing several medical conditions. These include gastroesophageal reflux, which is a backflow of acidic stomach contents into the esophagus, and celiac disease, which is an intolerance of a wheat protein called gluten. About 15 percent of people with Down syndrome have an underactive thyroid gland (hypothyroidism). The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. Individuals with Down syndrome also have an increased risk of hearing and vision problems. Additionally, a small percentage of children with Down syndrome develop cancer of blood-forming cells (leukemia).\n\nDelayed development and behavioral problems are often reported in children with Down syndrome. Affected individuals can have growth problems and their speech and language develop later and more slowly than in children without Down syndrome. Additionally, speech may be difficult to understand in individuals with Down syndrome. Behavioral issues can include attention problems, obsessive/compulsive behavior, and stubbornness or tantrums. A small percentage of people with Down syndrome are also diagnosed with developmental conditions called autism spectrum disorders, which affect communication and social interaction.\n\nPeople with Down syndrome often experience a gradual decline in thinking ability (cognition) as they age, usually starting around age 50. Down syndrome is also associated with an increased risk of developing Alzheimer's disease, a brain disorder that results in a gradual loss of memory, judgment, and ability to function. Approximately half of adults with Down syndrome develop Alzheimer's disease. Although Alzheimer's disease is usually a disorder that occurs in older adults, people with Down syndrome commonly develop this condition earlier, in their fifties or sixties.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/4385">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_4435"><div><strong>Ebstein anomaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4435</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0013481</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ebstein anomaly is characterized by downward displacement of variable severity of the tricuspid valve into the right ventricle. The valve leaflets may be dysplastic, and a variable portion of the proximal part of the right ventricle is in continuity with the right atrium ('atrialized'), because of the abnormally positioned tricuspid valve. The severity of this defect includes a spectrum ranging from severe disturbance in fetal and neonatal life to virtually asymptomatic survival to adult life. Associated extracardiac anomalies in the setting of chromosomal or mendelian disorders occur in about 20% of patients with Ebstein anomaly. Nonsyndromic Ebstein anomaly can occur as a sporadic or a familial defect (summary by Digilio et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4435">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_371831"><div><strong>Dilated cardiomyopathy 1S</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371831</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1834481</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/371831">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_334629"><div><strong>Chromosome 1p36 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334629</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1842870</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental retardation (Shapira et al., 1997). Monosomy 1p36 is the most common terminal deletion syndrome in humans, occurring in 1 in 5,000 births (Shaffer and Lupski, 2000; Heilstedt et al., 2003). See also neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH; 616975), which shows overlapping features and is caused by heterozygous mutation in the RERE gene (605226) on proximal chromosome 1p36. See also Radio-Tartaglia syndrome (RATARS; 619312), caused by mutation in the SPEN gene (613484) on chromosome 1p36, which shows overlapping features.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/334629">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_437215"><div><strong>Dilated cardiomyopathy 1Y</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>437215</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2678476</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Dilated cardiomyopathy-1Y (CMD1Y) is characterized by severe progressive cardiac failure, resulting in death in the third to sixth decades of life in some patients. Electron microscopy shows an abnormal sarcomere structure (Olson et al., 2001). In left ventricular noncompaction-9 (LVNC9), patients may present with cardiac failure or may be asymptomatic. Echocardiography shows noncompaction of the apex and midventricular wall of the left ventricle (Probst et al., 2011). Some patients also exhibit Ebstein anomaly of the tricuspid valve (Kelle et al., 2016) and some have mitral valve insufficiency (Nijak et al., 2018).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/437215">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_413305"><div><strong>BNAR syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413305</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2750433</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">FREM1 autosomal recessive disorders include Manitoba oculotrichoanal (MOTA) syndrome, bifid nose with or without anorectal and renal anomalies (BNAR syndrome), and isolated congenital anomalies of kidney and urinary tract (CAKUT). MOTA syndrome is characterized by an aberrant hairline (unilateral or bilateral wedge-shaped extension of the anterior hairline from the temple region to the ipsilateral eye) and anomalies of the eyes (widely spaced eyes, anophthalmia/microphthalmia and/or cryptophthalmos, colobomas of the upper eyelid, and corneopalpebral synechiae), nose (bifid or broad nasal tip), abdominal wall (omphalocele or umbilical hernia), and anus (stenosis and/or anterior displacement of the anal opening). The manifestations and degree of severity vary even among affected members of the same family. Growth and psychomotor development are normal. BNAR syndrome is characterized by a bifid or wide nasal tip, anorectal anomalies, and renal malformations (e.g., renal agenesis, renal dysplasia). Typically the eye manifestations of MOTA syndrome are absent. FREM1-CAKUT was identified in one individual with bilateral vesicoureteral reflux (VUR) and a second individual with VUR and renal hypodysplasia.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/413305">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1794180"><div><strong>Cardiomyopathy, dilated, 2E</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794180</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5561970</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">CMD2E is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation (Vasilescu et al., 2018; Jones et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794180">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413305" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">BNAR syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794180" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomyopathy, dilated, 2E</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334629" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 1p36 deletion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371831" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dilated cardiomyopathy 1S</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_437215" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dilated cardiomyopathy 1Y</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_4385" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Down syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_4435" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ebstein anomaly</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/38685467">The American Association for Thoracic Surgery (AATS) 2024 expert consensus document: Management of neonates and infants with Ebstein anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Konstantinov IE,
|
||
Chai P,
|
||
Bacha E,
|
||
Caldarone CA,
|
||
Da Silva JP,
|
||
Da Fonseca Da Silva L,
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||
Dearani J,
|
||
Hornberger L,
|
||
Knott-Craig C,
|
||
Del Nido P,
|
||
Qureshi M,
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||
Sarris G,
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Starnes V,
|
||
Tsang V</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
2024 Aug;168(2):311-324.
|
||
Epub 2024 Apr 27
|
||
doi: 10.1016/j.jtcvs.2024.04.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38685467" target="_blank">38685467</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35460862">Canadian Cardiovascular Society 2022 Guidelines for Cardiovascular Interventions in Adults With Congenital Heart Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marelli A,
|
||
Beauchesne L,
|
||
Colman J,
|
||
Ducas R,
|
||
Grewal J,
|
||
Keir M,
|
||
Khairy P,
|
||
Oechslin E,
|
||
Therrien J,
|
||
Vonder Muhll IF,
|
||
Wald RM,
|
||
Silversides C,
|
||
Barron DJ,
|
||
Benson L,
|
||
Bernier PL,
|
||
Horlick E,
|
||
Ibrahim R,
|
||
Martucci G,
|
||
Nair K,
|
||
Poirier NC,
|
||
Ross HJ,
|
||
Baumgartner H,
|
||
Daniels CJ,
|
||
Gurvitz M,
|
||
Roos-Hesselink JW,
|
||
Kovacs AH,
|
||
McLeod CJ,
|
||
Mulder BJ,
|
||
Warnes CA,
|
||
Webb GD</span><br />
|
||
<span class="medgenPMjournal">Can J Cardiol</span>
|
||
2022 Jul;38(7):862-896.
|
||
Epub 2022 Apr 20
|
||
doi: 10.1016/j.cjca.2022.03.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35460862" target="_blank">35460862</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23422019">Contemporary management of tricuspid regurgitation: an updated clinical review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taylor JT,
|
||
Chidsey G,
|
||
Disalvo TG,
|
||
Byrne JG,
|
||
Maltais S</span><br />
|
||
<span class="medgenPMjournal">Cardiol Rev</span>
|
||
2013 Jul-Aug;21(4):174-83.
|
||
doi: 10.1097/CRD.0b013e3182880751.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23422019" target="_blank">23422019</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22ebstein%20anomaly%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (9)</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/37559388">The epidemiology of CHD in Malta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grech V,
|
||
Gatt M,
|
||
Calleja N</span><br />
|
||
<span class="medgenPMjournal">Cardiol Young</span>
|
||
2024 Mar;34(3):547-551.
|
||
Epub 2023 Aug 10
|
||
doi: 10.1017/S1047951123003062.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37559388" target="_blank">37559388</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37487694">Ebstein's anomaly in children and adults: multidisciplinary insights into imaging and therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pasqualin G,
|
||
Boccellino A,
|
||
Chessa M,
|
||
Ciconte G,
|
||
Marcolin C,
|
||
Micaglio E,
|
||
Pappone C,
|
||
Sturla F,
|
||
Giamberti A</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2024 Jan 29;110(4):235-244.
|
||
doi: 10.1136/heartjnl-2023-322420.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37487694" target="_blank">37487694</a><a href="/pmc/articles/PMC10850734" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35460366">Ebstein's Anomaly: From Fetus to Adult-Literature Review and Pathway for Patient Care.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramcharan TKW,
|
||
Goff DA,
|
||
Greenleaf CE,
|
||
Shebani SO,
|
||
Salazar JD,
|
||
Corno AF</span><br />
|
||
<span class="medgenPMjournal">Pediatr Cardiol</span>
|
||
2022 Oct;43(7):1409-1428.
|
||
Epub 2022 Apr 23
|
||
doi: 10.1007/s00246-022-02908-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35460366" target="_blank">35460366</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28457246">Arrhythmia Surgery for Adults with Congenital Heart Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deal BJ,
|
||
Mavroudis C</span><br />
|
||
<span class="medgenPMjournal">Card Electrophysiol Clin</span>
|
||
2017 Jun;9(2):329-340.
|
||
doi: 10.1016/j.ccep.2017.02.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28457246" target="_blank">28457246</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6695743">Ebstein's anomaly and pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Waickman LA,
|
||
Skorton DJ,
|
||
Varner MW,
|
||
Ehmke DA,
|
||
Goplerud CP</span><br />
|
||
<span class="medgenPMjournal">Am J Cardiol</span>
|
||
1984 Jan 15;53(2):357-8.
|
||
doi: 10.1016/0002-9149(84)90466-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6695743" target="_blank">6695743</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ebstein%20anomaly%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (497)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38289561">Ebstein's anomaly: an electrophysiological perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta A,
|
||
Prabhu MA,
|
||
Anderson RD,
|
||
Prasad SB,
|
||
Campbell T,
|
||
Turnbull S,
|
||
Lee G,
|
||
Skinner JR,
|
||
Kalman J,
|
||
Kumar S</span><br />
|
||
<span class="medgenPMjournal">J Interv Card Electrophysiol</span>
|
||
2024 Jun;67(4):887-900.
|
||
Epub 2024 Jan 30
|
||
doi: 10.1007/s10840-024-01744-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38289561" target="_blank">38289561</a><a href="/pmc/articles/PMC11166840" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34436755">Ebstein's anomaly associated with biventricular noncompaction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aydın C,
|
||
Engin M</span><br />
|
||
<span class="medgenPMjournal">J Echocardiogr</span>
|
||
2023 Mar;21(1):53-58.
|
||
Epub 2021 Aug 26
|
||
doi: 10.1007/s12574-021-00548-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34436755" target="_blank">34436755</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30106198">Electro-vectorcardiographic and electrophysiological aspects of Ebstein's anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pérez-Riera AR,
|
||
Barbosa-Barros R,
|
||
Daminello-Raimundo R,
|
||
de Abreu LC,
|
||
Nikus K</span><br />
|
||
<span class="medgenPMjournal">Ann Noninvasive Electrocardiol</span>
|
||
2019 May;24(3):e12590.
|
||
Epub 2018 Aug 14
|
||
doi: 10.1111/anec.12590.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30106198" target="_blank">30106198</a><a href="/pmc/articles/PMC6931749" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25165895">Understanding Ebstein's malformation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anderson RH</span><br />
|
||
<span class="medgenPMjournal">Cardiol Young</span>
|
||
2015 Jan;25(1):137-8.
|
||
Epub 2014 Aug 28
|
||
doi: 10.1017/S1047951114001565.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25165895" target="_blank">25165895</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17521066">Ebstein's anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pashia SE</span><br />
|
||
<span class="medgenPMjournal">Neonatal Netw</span>
|
||
2007 May-Jun;26(3):197-208.
|
||
doi: 10.1891/0730-0832.26.3.197.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17521066" target="_blank">17521066</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ebstein%20anomaly%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (736)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38685467">The American Association for Thoracic Surgery (AATS) 2024 expert consensus document: Management of neonates and infants with Ebstein anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Konstantinov IE,
|
||
Chai P,
|
||
Bacha E,
|
||
Caldarone CA,
|
||
Da Silva JP,
|
||
Da Fonseca Da Silva L,
|
||
Dearani J,
|
||
Hornberger L,
|
||
Knott-Craig C,
|
||
Del Nido P,
|
||
Qureshi M,
|
||
Sarris G,
|
||
Starnes V,
|
||
Tsang V</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
2024 Aug;168(2):311-324.
|
||
Epub 2024 Apr 27
|
||
doi: 10.1016/j.jtcvs.2024.04.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38685467" target="_blank">38685467</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38217614">Fetal circular shunt in Ebstein's anomaly and non-steroidal anti-inflammatory treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peña FL,
|
||
Emanuelson TW,
|
||
Todman SH,
|
||
Jones RC,
|
||
Mahajan S</span><br />
|
||
<span class="medgenPMjournal">J Neonatal Perinatal Med</span>
|
||
2024;17(1):63-69.
|
||
doi: 10.3233/NPM-230040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38217614" target="_blank">38217614</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/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 class="nl"><a target="_blank" href="/pubmed/22189609">Ebstein's anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atik E</span><br />
|
||
<span class="medgenPMjournal">Arq Bras Cardiol</span>
|
||
2011 Nov;97(5):363-4.
|
||
doi: 10.1590/s0066-782x2011001400001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22189609" target="_blank">22189609</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ebstein%20anomaly%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (227)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39146690">A predictable electrocardiogram.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wolfe SB,
|
||
Reddy SCB</span><br />
|
||
<span class="medgenPMjournal">J Electrocardiol</span>
|
||
2024 Sep-Oct;86:153775.
|
||
Epub 2024 Aug 10
|
||
doi: 10.1016/j.jelectrocard.2024.153775.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39146690" target="_blank">39146690</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37559388">The epidemiology of CHD in Malta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grech V,
|
||
Gatt M,
|
||
Calleja N</span><br />
|
||
<span class="medgenPMjournal">Cardiol Young</span>
|
||
2024 Mar;34(3):547-551.
|
||
Epub 2023 Aug 10
|
||
doi: 10.1017/S1047951123003062.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37559388" target="_blank">37559388</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37487694">Ebstein's anomaly in children and adults: multidisciplinary insights into imaging and therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pasqualin G,
|
||
Boccellino A,
|
||
Chessa M,
|
||
Ciconte G,
|
||
Marcolin C,
|
||
Micaglio E,
|
||
Pappone C,
|
||
Sturla F,
|
||
Giamberti A</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2024 Jan 29;110(4):235-244.
|
||
doi: 10.1136/heartjnl-2023-322420.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37487694" target="_blank">37487694</a><a href="/pmc/articles/PMC10850734" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23422019">Contemporary management of tricuspid regurgitation: an updated clinical review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taylor JT,
|
||
Chidsey G,
|
||
Disalvo TG,
|
||
Byrne JG,
|
||
Maltais S</span><br />
|
||
<span class="medgenPMjournal">Cardiol Rev</span>
|
||
2013 Jul-Aug;21(4):174-83.
|
||
doi: 10.1097/CRD.0b013e3182880751.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23422019" target="_blank">23422019</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17521066">Ebstein's anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pashia SE</span><br />
|
||
<span class="medgenPMjournal">Neonatal Netw</span>
|
||
2007 May-Jun;26(3):197-208.
|
||
doi: 10.1891/0730-0832.26.3.197.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17521066" target="_blank">17521066</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ebstein%20anomaly%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (408)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39146690">A predictable electrocardiogram.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wolfe SB,
|
||
Reddy SCB</span><br />
|
||
<span class="medgenPMjournal">J Electrocardiol</span>
|
||
2024 Sep-Oct;86:153775.
|
||
Epub 2024 Aug 10
|
||
doi: 10.1016/j.jelectrocard.2024.153775.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39146690" target="_blank">39146690</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37559388">The epidemiology of CHD in Malta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grech V,
|
||
Gatt M,
|
||
Calleja N</span><br />
|
||
<span class="medgenPMjournal">Cardiol Young</span>
|
||
2024 Mar;34(3):547-551.
|
||
Epub 2023 Aug 10
|
||
doi: 10.1017/S1047951123003062.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37559388" target="_blank">37559388</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37487694">Ebstein's anomaly in children and adults: multidisciplinary insights into imaging and therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pasqualin G,
|
||
Boccellino A,
|
||
Chessa M,
|
||
Ciconte G,
|
||
Marcolin C,
|
||
Micaglio E,
|
||
Pappone C,
|
||
Sturla F,
|
||
Giamberti A</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2024 Jan 29;110(4):235-244.
|
||
doi: 10.1136/heartjnl-2023-322420.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37487694" target="_blank">37487694</a><a href="/pmc/articles/PMC10850734" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33503679">Commentary: Predictors of postoperative adverse events after cone reconstruction for Ebstein's anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rotar EP,
|
||
Kron IL</span><br />
|
||
<span class="medgenPMjournal">J Card Surg</span>
|
||
2021 Mar;36(3):1018-1019.
|
||
Epub 2021 Jan 27
|
||
doi: 10.1111/jocs.15376.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33503679" target="_blank">33503679</a><a href="/pmc/articles/PMC8115025" target="_blank" class="PubMedFree">Free PMC Article</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ebstein%20anomaly%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (225)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37902170">Transplacental non-steroidal anti-inflammatory drugs versus expectant management in fetal Ebstein anomaly with circular shunt: Systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mustafa HJ,
|
||
Aghajani F,
|
||
Bairmani ZA,
|
||
Khalil A</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2024 Jun;44(6-7):773-782.
|
||
Epub 2023 Oct 30
|
||
doi: 10.1002/pd.6446.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37902170" target="_blank">37902170</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37473409">Prenatal Exposure to Cannabis and Risk of Major Structural Birth Defects: A Systematic Review and Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Delker E,
|
||
Hayes S,
|
||
Kelly AE,
|
||
Jones KL,
|
||
Chambers C,
|
||
Bandoli G</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol</span>
|
||
2023 Aug 1;142(2):269-283.
|
||
Epub 2023 Jul 5
|
||
doi: 10.1097/AOG.0000000000005252.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37473409" target="_blank">37473409</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30980206">Clinical and genetic insights into non-compaction: a meta-analysis and systematic review on 7598 individuals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kayvanpour E,
|
||
Sedaghat-Hamedani F,
|
||
Gi WT,
|
||
Tugrul OF,
|
||
Amr A,
|
||
Haas J,
|
||
Zhu F,
|
||
Ehlermann P,
|
||
Uhlmann L,
|
||
Katus HA,
|
||
Meder B</span><br />
|
||
<span class="medgenPMjournal">Clin Res Cardiol</span>
|
||
2019 Nov;108(11):1297-1308.
|
||
Epub 2019 Apr 12
|
||
doi: 10.1007/s00392-019-01465-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30980206" target="_blank">30980206</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29049811">Effect of cone reconstruction on right ventricular function in patients with Ebstein's anomaly: a meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li D,
|
||
Hirata Y,
|
||
Zhou X,
|
||
Masuzawa A,
|
||
Ono M,
|
||
An Q</span><br />
|
||
<span class="medgenPMjournal">Interact Cardiovasc Thorac Surg</span>
|
||
2018 Feb 1;26(2):301-306.
|
||
doi: 10.1093/icvts/ivx312.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29049811" target="_blank">29049811</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23330581">Complex Ebstein's malformation: defining preoperative cardiac anatomy and function.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Negoi RI,
|
||
Ispas AT,
|
||
Ghiorghiu I,
|
||
Filipoiu F,
|
||
Negoi I,
|
||
Hostiuc M,
|
||
Hostiuc S,
|
||
Ginghina C</span><br />
|
||
<span class="medgenPMjournal">J Card Surg</span>
|
||
2013 Jan;28(1):70-81.
|
||
doi: 10.1111/jocs.12032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23330581" target="_blank">23330581</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ebstein%20anomaly%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0013481%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0013481%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0013481%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=224700" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1880" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Ebstein%20anomaly" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22ebstein%20anomaly%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">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(%22Ebstein%20anomaly%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://catalog.coriell.org/Search?q=224700" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Ebstein%27s+Anomaly/2431" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/ebstein_anomaly" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Ebstein%20anomaly" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/critical-congenital-heart-disease" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/6313/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed?term=Ebstein%20anomaly%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=4435" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0013481[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0013481[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=4435" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=4435" ref="log$=recordlinks">OMIM</a>
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<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=4435" ref="log$=recordlinks">PMC Articles</a>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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