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<!--
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UID=1830392
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ConceptID=C5779791
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormal cardiac septum morphology</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830392</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.">C5779791</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Cardiac septal defects; Septal defect; Septal defects</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Cardiac septal defects (253273004); Heart septal defects (253273004)</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:0001671">HP:0001671</a></td></tr>
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">An anomaly of the intra-atrial or intraventricular septum. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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<div class="portlet mgSection" id="ID_118">
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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>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet 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">Abnormal cardiac septum morphology</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/2848" ref="tree=MeSH" title="MedGen record for Disorder of cardiovascular system">Disorder of cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/116727" ref="tree=MeSH" title="MedGen record for Abnormality of the cardiovascular system">Abnormality of the cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/892473" ref="tree=MeSH" title="MedGen record for Abnormal cardiovascular system morphology">Abnormal cardiovascular system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/6748" ref="tree=MeSH" title="MedGen record for Abnormal heart morphology">Abnormal heart morphology</a></span><ul><li><span class="matched_ds">Abnormal cardiac septum morphology</span><ul><li><span class="TLline"><a href="/medgen/488868" ref="tree=MeSH" title="MedGen record for Abnormal atrial septum morphology">Abnormal atrial septum morphology</a></span><ul><li><span class="TLline"><a href="/medgen/6753" ref="tree=MeSH" title="MedGen record for Atrial septal defect">Atrial septal defect</a></span><ul><li><span class="TLline"><a href="/medgen/349495" ref="tree=MeSH" title="MedGen record for Atrial septal defect 1">Atrial septal defect 1</a></span></li><li><span class="TLline"><a href="/medgen/334249" ref="tree=MeSH" title="MedGen record for Atrial septal defect 2">Atrial septal defect 2</a></span></li><li><span class="TLline"><a href="/medgen/481420" ref="tree=MeSH" title="MedGen record for Atrial septal defect 3">Atrial septal defect 3</a></span></li><li><span class="TLline"><a href="/medgen/369556" ref="tree=MeSH" title="MedGen record for Atrial septal defect 4">Atrial septal defect 4</a></span></li><li><span class="TLline"><a href="/medgen/412580" ref="tree=MeSH" title="MedGen record for Atrial septal defect 5">Atrial septal defect 5</a></span></li><li><span class="TLline"><a href="/medgen/414348" ref="tree=MeSH" title="MedGen record for Atrial septal defect 6">Atrial septal defect 6</a></span></li><li><span class="TLline"><a href="/medgen/1825952" ref="tree=MeSH" title="MedGen record for Atrial septal defect, ostium primum type">Atrial septal defect, ostium primum type</a></span></li><li><span class="TLline"><a href="/medgen/91034" ref="tree=MeSH" title="MedGen record for Atrial septal defect, ostium secundum type">Atrial septal defect, ostium secundum type</a></span></li><li><span class="TLline"><a href="/medgen/488986" ref="tree=MeSH" title="MedGen record for Coronary sinus atrial septal defect">Coronary sinus atrial septal defect</a></span></li><li><span class="TLline"><a href="/medgen/9825" ref="tree=MeSH" title="MedGen record for Lutembacher syndrome">Lutembacher syndrome</a></span></li><li><span class="TLline"><a href="/medgen/8891" ref="tree=MeSH" title="MedGen record for Patent foramen ovale">Patent foramen ovale</a></span></li><li><span class="TLline"><a href="/medgen/138011" ref="tree=MeSH" title="MedGen record for Sinus venosus atrial septal defect">Sinus venosus atrial septal defect</a></span></li><li><span class="TLline"><a href="/medgen/1376952" ref="tree=MeSH" title="MedGen record for Swiss cheese atrial septal defect">Swiss cheese atrial septal defect</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1384602" ref="tree=MeSH" title="MedGen record for Atrial septal dilatation">Atrial septal dilatation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/235591" ref="tree=MeSH" title="MedGen record for Atrioventricular canal defect">Atrioventricular canal defect</a></span><ul><li><span class="TLline"><a href="/medgen/65132" ref="tree=MeSH" title="MedGen record for Complete atrioventricular canal">Complete atrioventricular canal</a></span><ul><li><span class="TLline"><a href="/medgen/959993" ref="tree=MeSH" title="MedGen record for Complete atrioventricular canal-left heart obstruction syndrome">Complete atrioventricular canal-left heart obstruction syndrome</a></span></li><li><span class="TLline"><a href="/medgen/768726" ref="tree=MeSH" title="MedGen record for Complete atrioventricular canal-tetralogy of fallot syndrome">Complete atrioventricular canal-tetralogy of fallot syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1842918" ref="tree=MeSH" title="MedGen record for Complete atrioventricular canal-ventricle hypoplasia syndrome">Complete atrioventricular canal-ventricle hypoplasia syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/868880" ref="tree=MeSH" title="MedGen record for Intermediate atrioventricular canal defect">Intermediate atrioventricular canal defect</a></span></li><li><span class="TLline"><a href="/medgen/868879" ref="tree=MeSH" title="MedGen record for Partial atrioventricular canal">Partial atrioventricular canal</a></span></li><li><span class="TLline"><a href="/medgen/83374" ref="tree=MeSH" title="MedGen record for Primum atrial septal defect">Primum atrial septal defect</a></span></li><li><span class="TLline"><a href="/medgen/868878" ref="tree=MeSH" title="MedGen record for Transitional atrioventricular canal defect">Transitional atrioventricular canal defect</a></span></li><li><span class="TLline"><a href="/medgen/482570" ref="tree=MeSH" title="MedGen record for Unbalanced atrioventricular canal defect">Unbalanced atrioventricular canal defect</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_82697"><div><strong>Child syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82697</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.">C0265267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">NSDHL-related disorders include CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, an X-linked disorder that is usually male lethal during gestation and thus predominantly affects females; and CK syndrome, an X-linked disorder that affects males. CHILD syndrome is characterized by unilateral distribution of ichthyosiform skin lesions and ipsilateral limb defects that range from shortening of the metacarpals and phalanges to absence of the entire limb. Intellect is usually normal. The ichthyosiform skin lesions are usually present at birth or in the first weeks of life; new lesions can develop in later life. Onychodystrophy and periungual hyperkeratosis are common. Heart, lung, and kidney malformations can also occur. CK syndrome is characterized by mild-to-severe cognitive impairment and behavior problems (aggression, attention-deficit/hyperactivity disorder [ADHD], and irritability). All reported affected males have developed seizures in infancy and have cerebral cortical malformations and microcephaly. All have distinctive facial features, a thin habitus, and relatively long, thin fingers and toes. Some have scoliosis and kyphosis. Strabismus is common. Optic atrophy is also reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82697">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162915"><div><strong>Acrocallosal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162915</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.">C0796147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162915">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_163225"><div><strong>Toriello-Carey syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163225</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.">C0796184</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Toriello-Carey syndrome is a multiple congenital anomaly disorder with variable systemic manifestations, most commonly including mental retardation, agenesis of the corpus callosum, postnatal growth delay, cardiac defects, usually septal defects, distal limb defects, and urogenital anomalies in affected males. Patients have facial dysmorphic features, micrognathia, including full cheeks, hypertelorism, flattened nasal bridge, anteverted nares, and short neck. Not all features are found in all patients and some patients may have additional features such as anal anomalies or hernias (summary by Toriello et al., 2003). In a review of the Toriello-Carey syndrome, Toriello et al. (2016) stated that while corpus callosum abnormalities and micrognathia with highly arched or cleft palate are seen in most patients, other manifestations are widely variable. They noted that etiologic heterogeneity has been observed in reported patients, with at least 20% of patients having chromosome anomalies, and that no good candidate genes have been identified by exome sequencing. The authors commented that this condition might not be a unitary diagnostic entity. They recommended chromosome microarray for any child suspected of having the condition, followed by standard of care by genetic testing.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163225">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338553"><div><strong>Absent thumb-short stature-immunodeficiency syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338553</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.">C1848818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338553">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_390804"><div><strong>Chromosome 15q26-qter deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>390804</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.">C2675463</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/390804">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_477585"><div><strong>Lung agenesis-heart defect-thumb anomalies syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477585</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.">C3275954</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The Mardini-Nyhan association comprises uni- or bilateral lung agenesis, complex cardiac defects, particularly total anomalous pulmonary venous return (TAPVR), and thumb abnormalities (summary by Hastings et al., 2009).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/477585">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481985"><div><strong>Chromosome 15q25 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481985</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.">C3280355</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481985">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767257"><div><strong>Schuurs-Hoeijmakers syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767257</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.">C3554343</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PACS1 neurodevelopmental disorder (PACS1-NDD) is characterized by mild-to-severe neurodevelopmental delays. Language skills are more severely affected than motor skills. Hypotonia is reported in about a third of individuals and is noted to improve over time. Approximately 60% of individuals are ambulatory. Feeding difficulty is common, with 25% requiring gastrostomy tube to maintain appropriate caloric intake. Other common features include constipation, seizures, behavioral issues, congenital heart anomalies, short stature, and microcephaly. Common facial features include hypertelorism, downslanting palpebral fissures, bulbous nasal tip, low-set and simple ears, smooth philtrum, wide mouth with downturned corners, thin upper vermilion, and wide-spaced teeth. To date approximately 35 individuals with PACS1-NDD have been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767257">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_811346"><div><strong>Meckel syndrome, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811346</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.">C3714506</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel Syndrome See also MKS2 (603194), caused by mutation in the TMEM216 gene (613277) on chromosome 11q12; MKS3 (607361), caused by mutation in the TMEM67 gene (609884) on chromosome 8q; MKS4 (611134), caused by mutation in the CEP290 gene (610142) on chromosome 12q; MKS5 (611561), caused by mutation in the RPGRIP1L gene (610937) on chromosome 16q12; MKS6 (612284), caused by mutation in the CC2D2A gene (612013) on chromosome 4p15; MKS7 (267010), caused by mutation in the NPHP3 (608002) gene on chromosome 3q22; MKS8 (613885), caused by mutation in the TCTN2 gene (613846) on chromosome 12q24; MKS9 (614209), caused by mutation in the B9D1 gene (614144) on chromosome 17p11; MKS10 (614175), caused by mutation in the B9D2 gene (611951) on chromosome 19q13; MKS11 (615397), caused by mutation in the TMEM231 gene (614949) on chromosome 16q23; MKS12 (616258), caused by mutation in the KIF14 gene (611279) on chromosome 1q32; MKS13 (617562), caused by mutation in the TMEM107 gene (616183) on chromosome 17p13; and MKS14 (619879), caused by mutation in the TXNDC15 gene (617778) on chromosome 5q31.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811346">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_902629"><div><strong>Heterotaxy, visceral, 7, autosomal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902629</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225217</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Visceral heterotaxy-7 (HTX7) is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by Guimier et al., 2015). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902629">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_906646"><div><strong>Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>906646</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.">C4225222</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, 163950) (summary by Martinelli et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/906646">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_935015"><div><strong>Chromosome 19q13.11 deletion syndrome, distal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>935015</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.">C4311048</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distal chromosome 19q13.11 deletion syndrome is an autosomal dominant neurodevelopmental disorder characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties. Additional features include dysmorphic facies, signs of ectodermal dysplasia, hand and foot anomalies, and genitourinary anomalies, particularly in males (summary by Chowdhury et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/935015">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1804638"><div><strong>Carey-Fineman-Ziter syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1804638</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.">C5676876</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Carey-Fineman-Ziter syndrome-1 (CFZS1) is a multisystem congenital disorder characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. More variable features include dysmorphic facial features, brain abnormalities, and intellectual disability. It has been postulated that many clinical features in CFZS1 may be secondary effects of muscle weakness during development or brainstem anomalies (summary by Pasetti et al., 2016). Di Gioia et al. (2017) determined that CFZS1 represents a slowly progressive congenital myopathy resulting from a defect in myoblast fusion. Genetic Heterogeneity of Carey-Fineman-Ziter Syndrome Carey-Fineman-Ziter syndrome-2 (CFZS2; 619941) is caused by mutation in the MYMX gene (619912) on chromosome 6p21.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1804638">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338553" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Absent thumb-short stature-immunodeficiency syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162915" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrocallosal syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1804638" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carey-Fineman-Ziter syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82697" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Child syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481985" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 15q25 deletion syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (13)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_390804" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 15q26-qter deletion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_935015" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 19q13.11 deletion syndrome, distal</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902629" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 7, autosomal</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477585" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lung agenesis-heart defect-thumb anomalies syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_906646" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_811346" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meckel syndrome, type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767257" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Schuurs-Hoeijmakers syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163225" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Toriello-Carey syndrome</a></div></span></div></div>
|
||
</div>
|
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|
||
<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/15343577">Evaluation and treatment of abnormalities of the interatrial septum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wahl A,
|
||
Windecker S,
|
||
Meier B</span><br />
|
||
<span class="medgenPMjournal">Catheter Cardiovasc Interv</span>
|
||
2004 Sep;63(1):94-103.
|
||
doi: 10.1002/ccd.20162.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15343577" target="_blank">15343577</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4225808">Diagnosis and surgical treatment of infants with critical pulmonary outflow obstruction. Study of thirty-four infants with pulmonary stenosis or atresia, and intact ventricular septum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gersony WM,
|
||
Bernhard WF,
|
||
Nadas AS,
|
||
Gross RE</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
1967 Apr;35(4):765-76.
|
||
doi: 10.1161/01.cir.35.4.765.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4225808" target="_blank">4225808</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14463666">Endocardial-cushion defects. Diagnosis and surgical treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">LEFEVRE TM,
|
||
MAGIDOSON O,
|
||
KAY JH</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1962 Mar 8;266:480-4.
|
||
doi: 10.1056/NEJM196203082661002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14463666" target="_blank">14463666</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormal%20cardiac%20septum%20morphology)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (58)</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/32113817">Fetal cardiac interventions: Where do we stand?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friedman KG,
|
||
Tworetzky W</span><br />
|
||
<span class="medgenPMjournal">Arch Cardiovasc Dis</span>
|
||
2020 Feb;113(2):121-128.
|
||
Epub 2020 Feb 26
|
||
doi: 10.1016/j.acvd.2019.06.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32113817" target="_blank">32113817</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29150126">Hypertrophic cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santos Mateo JJ,
|
||
Sabater Molina M,
|
||
Gimeno Blanes JR</span><br />
|
||
<span class="medgenPMjournal">Med Clin (Barc)</span>
|
||
2018 Jun 8;150(11):434-442.
|
||
Epub 2017 Nov 14
|
||
doi: 10.1016/j.medcli.2017.09.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29150126" target="_blank">29150126</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26993757">Discontinuous Pulmonary Artery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eltayeb O,
|
||
Mongé MC,
|
||
Popescu AR,
|
||
Sarwark AE,
|
||
Harris T,
|
||
Backer CL</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr Congenit Heart Surg</span>
|
||
2017 Jan;8(1):106-110.
|
||
Epub 2016 Jun 22
|
||
doi: 10.1177/2150135115618871.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26993757" target="_blank">26993757</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27188965">Patent foramen ovale.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Homma S,
|
||
Messé SR,
|
||
Rundek T,
|
||
Sun YP,
|
||
Franke J,
|
||
Davidson K,
|
||
Sievert H,
|
||
Sacco RL,
|
||
Di Tullio MR</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2016 Jan 21;2:15086.
|
||
doi: 10.1038/nrdp.2015.86.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27188965" target="_blank">27188965</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20869644">Hypertrophic cardiomyopathy in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colan SD</span><br />
|
||
<span class="medgenPMjournal">Heart Fail Clin</span>
|
||
2010 Oct;6(4):433-44, vii-iii.
|
||
doi: 10.1016/j.hfc.2010.05.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20869644" target="_blank">20869644</a><a href="/pmc/articles/PMC2946944" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20cardiac%20septum%20morphology%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (978)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29150126">Hypertrophic cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santos Mateo JJ,
|
||
Sabater Molina M,
|
||
Gimeno Blanes JR</span><br />
|
||
<span class="medgenPMjournal">Med Clin (Barc)</span>
|
||
2018 Jun 8;150(11):434-442.
|
||
Epub 2017 Nov 14
|
||
doi: 10.1016/j.medcli.2017.09.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29150126" target="_blank">29150126</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27188965">Patent foramen ovale.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Homma S,
|
||
Messé SR,
|
||
Rundek T,
|
||
Sun YP,
|
||
Franke J,
|
||
Davidson K,
|
||
Sievert H,
|
||
Sacco RL,
|
||
Di Tullio MR</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Dis Primers</span>
|
||
2016 Jan 21;2:15086.
|
||
doi: 10.1038/nrdp.2015.86.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27188965" target="_blank">27188965</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21443547">Intracardiac bronchogenic cyst.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vaideeswar P,
|
||
Agnihotri MA,
|
||
Patwardhan AM</span><br />
|
||
<span class="medgenPMjournal">J Card Surg</span>
|
||
2011 May;26(3):266-8.
|
||
Epub 2011 Mar 28
|
||
doi: 10.1111/j.1540-8191.2011.01206.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21443547" target="_blank">21443547</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20869644">Hypertrophic cardiomyopathy in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colan SD</span><br />
|
||
<span class="medgenPMjournal">Heart Fail Clin</span>
|
||
2010 Oct;6(4):433-44, vii-iii.
|
||
doi: 10.1016/j.hfc.2010.05.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20869644" target="_blank">20869644</a><a href="/pmc/articles/PMC2946944" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3898389">Ventricular septal defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Soto B,
|
||
Bargeron LM Jr,
|
||
Diethelm E</span><br />
|
||
<span class="medgenPMjournal">Semin Roentgenol</span>
|
||
1985 Jul;20(3):200-13.
|
||
doi: 10.1016/0037-198x(85)90004-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3898389" target="_blank">3898389</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20cardiac%20septum%20morphology%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1270)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32113817">Fetal cardiac interventions: Where do we stand?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friedman KG,
|
||
Tworetzky W</span><br />
|
||
<span class="medgenPMjournal">Arch Cardiovasc Dis</span>
|
||
2020 Feb;113(2):121-128.
|
||
Epub 2020 Feb 26
|
||
doi: 10.1016/j.acvd.2019.06.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32113817" target="_blank">32113817</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29150126">Hypertrophic cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Santos Mateo JJ,
|
||
Sabater Molina M,
|
||
Gimeno Blanes JR</span><br />
|
||
<span class="medgenPMjournal">Med Clin (Barc)</span>
|
||
2018 Jun 8;150(11):434-442.
|
||
Epub 2017 Nov 14
|
||
doi: 10.1016/j.medcli.2017.09.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29150126" target="_blank">29150126</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23931102">Patent foramen ovale.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dattilo PB,
|
||
Kim MS,
|
||
Carroll JD</span><br />
|
||
<span class="medgenPMjournal">Cardiol Clin</span>
|
||
2013 Aug;31(3):401-15.
|
||
doi: 10.1016/j.ccl.2013.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23931102" target="_blank">23931102</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20869644">Hypertrophic cardiomyopathy in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Colan SD</span><br />
|
||
<span class="medgenPMjournal">Heart Fail Clin</span>
|
||
2010 Oct;6(4):433-44, vii-iii.
|
||
doi: 10.1016/j.hfc.2010.05.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20869644" target="_blank">20869644</a><a href="/pmc/articles/PMC2946944" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17668307">Cryomap failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reddy VK,
|
||
Villuendas R,
|
||
Rudin A,
|
||
Goldberger JJ,
|
||
Kadish AH</span><br />
|
||
<span class="medgenPMjournal">J Interv Card Electrophysiol</span>
|
||
2007 Aug;19(2):139-41.
|
||
Epub 2007 Aug 1
|
||
doi: 10.1007/s10840-007-9140-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17668307" target="_blank">17668307</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20cardiac%20septum%20morphology%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (273)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32097931">Morphometric Features of Patent Foramen Ovale as a Risk Factor of Cerebrovascular Accidents: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hołda MK,
|
||
Koziej M</span><br />
|
||
<span class="medgenPMjournal">Cerebrovasc Dis</span>
|
||
2020;49(1):1-9.
|
||
Epub 2020 Feb 25
|
||
doi: 10.1159/000506433.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32097931" target="_blank">32097931</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23561812">Pitfalls in repair of conotruncal anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Raisky O,
|
||
Vouhé PR</span><br />
|
||
<span class="medgenPMjournal">Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu</span>
|
||
2013;16(1):7-12.
|
||
doi: 10.1053/j.pcsu.2013.02.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23561812" target="_blank">23561812</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22848022">Left ventricular cleft.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cappai A,
|
||
Malvindi PG,
|
||
Raffa GM,
|
||
Basciu A,
|
||
Monti L</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J Cardiovasc Imaging</span>
|
||
2013 Jan;14(1):14.
|
||
Epub 2012 Jul 29
|
||
doi: 10.1093/ehjci/jes157.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22848022" target="_blank">22848022</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21444047">Impact of fetal cardiac intervention on congenital heart surgery.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bacha EA</span><br />
|
||
<span class="medgenPMjournal">Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu</span>
|
||
2011;14(1):35-7.
|
||
doi: 10.1053/j.pcsu.2011.01.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21444047" target="_blank">21444047</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21443547">Intracardiac bronchogenic cyst.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vaideeswar P,
|
||
Agnihotri MA,
|
||
Patwardhan AM</span><br />
|
||
<span class="medgenPMjournal">J Card Surg</span>
|
||
2011 May;26(3):266-8.
|
||
Epub 2011 Mar 28
|
||
doi: 10.1111/j.1540-8191.2011.01206.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21443547" target="_blank">21443547</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20cardiac%20septum%20morphology%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 (729)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37952949">Prevalence of Left Ventricular Myocardial Crypts in Japanese Patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Watanabe J,
|
||
Kawano H,
|
||
Sueyoshi E,
|
||
Koike H,
|
||
Yoshimuta T,
|
||
Ikeda S,
|
||
Maemura K</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
2024 Jun 15;63(12):1675-1681.
|
||
Epub 2023 Nov 13
|
||
doi: 10.2169/internalmedicine.2771-23.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37952949" target="_blank">37952949</a><a href="/pmc/articles/PMC11239250" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37208449">Arteria lusoria with patent foramen ovale: clinical and embryological significance with literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chandrupatla M,
|
||
Raviteja P,
|
||
Motwani R</span><br />
|
||
<span class="medgenPMjournal">Surg Radiol Anat</span>
|
||
2023 Jul;45(7):807-811.
|
||
Epub 2023 May 19
|
||
doi: 10.1007/s00276-023-03170-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37208449" target="_blank">37208449</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32097931">Morphometric Features of Patent Foramen Ovale as a Risk Factor of Cerebrovascular Accidents: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hołda MK,
|
||
Koziej M</span><br />
|
||
<span class="medgenPMjournal">Cerebrovasc Dis</span>
|
||
2020;49(1):1-9.
|
||
Epub 2020 Feb 25
|
||
doi: 10.1159/000506433.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32097931" target="_blank">32097931</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24843222">Nasal septal deformities in chronic rhinosinusitis patients: clinical and radiological aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Poje G,
|
||
Zinreich JS,
|
||
Skitarelić N,
|
||
Đurić Vuković K,
|
||
Passàli GC,
|
||
Passàli D,
|
||
Mladina R</span><br />
|
||
<span class="medgenPMjournal">Acta Otorhinolaryngol Ital</span>
|
||
2014 Apr;34(2):117-22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24843222" target="_blank">24843222</a><a href="/pmc/articles/PMC4025178" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/20633854">Echocardiographic evaluation of patent foramen ovale prior to device closure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rana BS,
|
||
Thomas MR,
|
||
Calvert PA,
|
||
Monaghan MJ,
|
||
Hildick-Smith D</span><br />
|
||
<span class="medgenPMjournal">JACC Cardiovasc Imaging</span>
|
||
2010 Jul;3(7):749-60.
|
||
doi: 10.1016/j.jcmg.2010.01.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20633854" target="_blank">20633854</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormal%20cardiac%20septum%20morphology%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (583)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/39407145">A preliminary investigation of the left atrial suspended cord and its significance as revealed by coronary CT angiography: an observational study with a systematic literature review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tian H,
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Sun C,
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Liu Y,
|
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Li Y,
|
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He Y,
|
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Wu Y,
|
||
Wu B</span><br />
|
||
<span class="medgenPMjournal">BMC Cardiovasc Disord</span>
|
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2024 Oct 16;24(1):564.
|
||
doi: 10.1186/s12872-024-04243-w.
|
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<span class="bold">PMID: </span><a href="/pubmed/39407145" target="_blank">39407145</a><a href="/pmc/articles/PMC11481241" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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Augustine M,
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Shafique MA,
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Mustafa MS,
|
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Mian ZR,
|
||
Jaimes DCC,
|
||
Gaudani A,
|
||
Shaukat B,
|
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Kumar S,
|
||
Aulakh SS,
|
||
Jami E,
|
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Sharifa M,
|
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Ahuja K,
|
||
Maslamani ANJ,
|
||
Bhudia S</span><br />
|
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<span class="medgenPMjournal">Curr Probl Cardiol</span>
|
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2024 Mar;49(3):102400.
|
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Epub 2024 Jan 15
|
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doi: 10.1016/j.cpcardiol.2024.102400.
|
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<span class="bold">PMID: </span><a href="/pubmed/38232917" target="_blank">38232917</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/32097931">Morphometric Features of Patent Foramen Ovale as a Risk Factor of Cerebrovascular Accidents: A Systematic Review and Meta-Analysis.</a></div>
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|
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Koziej M</span><br />
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<span class="medgenPMjournal">Cerebrovasc Dis</span>
|
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2020;49(1):1-9.
|
||
Epub 2020 Feb 25
|
||
doi: 10.1159/000506433.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32097931" target="_blank">32097931</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26489617">Biventricular repair versus uni-ventricular repair for pulmonary atresia with intact ventrical septum: A systematic review.</a></div>
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|
||
Du XL,
|
||
Chen S</span><br />
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<span class="medgenPMjournal">J Huazhong Univ Sci Technolog Med Sci</span>
|
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2015 Oct;35(5):656-661.
|
||
Epub 2015 Oct 22
|
||
doi: 10.1007/s11596-015-1485-3.
|
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<span class="bold">PMID: </span><a href="/pubmed/26489617" target="_blank">26489617</a></div>
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