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<meta name="keywords" content="C0685707, congenital abnormality, muscular ventricular septal defect, muscular ventricular septum defect, type 4 ventricular septal defect, ventricular septal defect, muscular, ventricular septal defects, muscular, 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="The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=473253
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ConceptID=C0685707
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Muscular ventricular septal defect</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>473253</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.">C0685707</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Ventricular septal defect, muscular; Ventricular septal defects, muscular</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Muscular ventricular septum defect (94706008); Muscular ventricular septal defect (94706008)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0011623">HP:0011623</a></td></tr>
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||
<div class="portlet_content ln">The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle. [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>
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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="TLline">Muscular ventricular septal defect</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/116727" ref="tree=MeSH" title="MedGen record for Abnormality of the cardiovascular system">Abnormality of the cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/892473" ref="tree=MeSH" title="MedGen record for Abnormal cardiovascular system morphology">Abnormal cardiovascular system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/6748" ref="tree=MeSH" title="MedGen record for Abnormal heart morphology">Abnormal heart morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871266" ref="tree=MeSH" title="MedGen record for Abnormal cardiac ventricle morphology">Abnormal cardiac ventricle morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866908" ref="tree=MeSH" title="MedGen record for Abnormal ventricular septum morphology">Abnormal ventricular septum morphology</a></span><ul><li><span class="TLline"><a href="/medgen/42366" ref="tree=MeSH" title="MedGen record for Ventricular septal defect">Ventricular septal defect</a></span><ul><li><span class="matched_ds">Muscular ventricular septal defect</span><ul><li><span class="TLline"><a href="/medgen/868854" ref="tree=MeSH" title="MedGen record for Apical muscular ventricular septal defect">Apical muscular ventricular septal defect</a></span></li><li><span class="TLline"><a href="/medgen/868853" ref="tree=MeSH" title="MedGen record for Multiple muscular ventricular septal defects">Multiple muscular ventricular septal defects</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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||
<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_61232"><div><strong>Sotos syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61232</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.">C0175695</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sotos syndrome is characterized by a distinctive facial appearance (broad and prominent forehead with a dolichocephalic head shape, sparse frontotemporal hair, downslanting palpebral fissures, malar flushing, long and narrow face, long chin); learning disability (early developmental delay, mild-to-severe intellectual impairment); and overgrowth (height and/or head circumference =2 SD above the mean). These three clinical features are considered the cardinal features of Sotos syndrome. Major features of Sotos syndrome include behavioral findings (most notably autistic spectrum disorder), advanced bone age, cardiac anomalies, cranial MRI/CT abnormalities, joint hyperlaxity with or without pes planus, maternal preeclampsia, neonatal complications, renal anomalies, scoliosis, and seizures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/61232">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120524"><div><strong>Holt-Oram syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120524</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.">C0265264</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range from triphalangeal or absent thumb(s) to phocomelia. Other upper-limb malformations can include unequal arm length caused by aplasia or hypoplasia of the radius, fusion or anomalous development of the carpal and thenar bones, abnormal forearm pronation and supination, abnormal opposition of the thumb, sloping shoulders, and restriction of shoulder joint movement. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. A congenital heart malformation is present in 75% of individuals with HOS and most commonly involves the septum. Atrial septal defect and ventricular septal defect can vary in number, size, and location. Complex congenital heart malformations can also occur in individuals with HOS. Individuals with HOS with or without a congenital heart malformation are at risk for cardiac conduction disease. While individuals may present at birth with sinus bradycardia and first-degree atrioventricular (AV) block, AV block can progress unpredictably to a higher grade including complete heart block with and without atrial fibrillation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120524">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98030"><div><strong>Wrinkly skin syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98030</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.">C0406587</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ATP6V0A2-related cutis laxa is characterized by generalized cutis laxa, findings associated with generalized connective tissue disorder, developmental delays, and a variety of neurologic findings including abnormality on brain MRI. At birth, hypotonia, overfolded skin, and distinctive facial features are present and enlarged fontanelles are often observed. During childhood, the characteristic facial features and thick or coarse hair may become quite pronounced. The skin findings decrease with age, although easy bruising and Ehlers-Danlos-like scars have been described in some. In most (not all) affected individuals, cortical and cerebellar malformations are observed on brain MRI. Nearly all affected individuals have developmental delays, seizures, and neurologic regression.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98030">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347149"><div><strong>Osteodysplastic primordial dwarfism, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347149</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.">C1859452</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">RNU4atac-opathy encompasses the phenotypic spectrum of biallelic RNU4ATAC pathogenic variants, including the three historically designated clinical phenotypes microcephalic osteodysplastic primordial dwarfism type I/III (MOPDI), Roifman syndrome, and Lowry-Wood syndrome, as well as varying combinations of the disease features / system involvement that do not match specific defined phenotypes. Findings present in all affected individuals include growth restriction, microcephaly, skeletal dysplasia, and cognitive impairment. Less common but variable findings include brain anomalies, seizures, strokes, immunodeficiency, and cardiac anomalies, as well as ophthalmologic, skin, renal, gastrointestinal, hearing, and endocrine involvement.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347149">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350526"><div><strong>Hypertrophic cardiomyopathy 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350526</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.">C1861862</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">While most people with familial hypertrophic cardiomyopathy are symptom-free or have only mild symptoms, this condition can have serious consequences. It can cause abnormal heart rhythms (arrhythmias) that may be life threatening. People with familial hypertrophic cardiomyopathy have an increased risk of sudden death, even if they have no other symptoms of the condition. A small number of affected individuals develop potentially fatal heart failure, which may require heart transplantation.\n\nNonfamilial hypertrophic cardiomyopathy tends to be milder. This form typically begins later in life than familial hypertrophic cardiomyopathy, and affected individuals have a lower risk of serious cardiac events and sudden death than people with the familial form.\n\nThe symptoms of familial hypertrophic cardiomyopathy are variable, even within the same family. Many affected individuals have no symptoms. Other people with familial hypertrophic cardiomyopathy may experience chest pain; shortness of breath, especially with physical exertion; a sensation of fluttering or pounding in the chest (palpitations); lightheadedness; dizziness; and fainting.\n\nIn familial hypertrophic cardiomyopathy, cardiac thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). In some people, thickening of the interventricular septum impedes the flow of oxygen-rich blood from the heart, which may lead to an abnormal heart sound during a heartbeat (heart murmur) and other signs and symptoms of the condition. Other affected individuals do not have physical obstruction of blood flow, but the pumping of blood is less efficient, which can also lead to symptoms of the condition. Familial hypertrophic cardiomyopathy often begins in adolescence or young adulthood, although it can develop at any time throughout life.\n\nHypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. When multiple members of a family have the condition, it is known as familial hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy also occurs in people with no family history; these cases are considered nonfamilial hypertrophic cardiomyopathy. </div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350526">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_393913"><div><strong>Chromosome 1q21.1 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393913</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.">C2675897</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The 1q21.1 recurrent deletion itself does not lead to a clinically recognizable syndrome, as some persons with the deletion have no obvious clinical findings. Others have variable findings that most commonly include mildly dysmorphic but nonspecific facial features (>75%), mild intellectual disability or learning disabilities (25%), microcephaly (43%), and eye abnormalities (26%). Other findings can include cardiac defects, genitourinary anomalies, skeletal malformations, joint laxity, and seizures (~23%). Psychiatric and behavioral abnormalities can include autism spectrum disorder, attention-deficit/hyperactivity disorder, and sleep disturbances. Sensorineural hearing loss and recurrent infections /otitis media are rare.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393913">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_444060"><div><strong>Cardiospondylocarpofacial syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>444060</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.">C2931461</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cardiospondylocarpofacial syndrome (CSCF) is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion, extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations (summary by Le Goff et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/444060">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482569"><div><strong>Atrioventricular septal defect 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482569</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.">C3280939</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term 'atrioventricular septal defect' (AVSD) covers a spectrum of congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared (summary by Craig, 2006). AVSD, also designated endocardial cushion defect or atrioventricular canal defect (AVCD), is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. The 2 syndromes most frequently associated with AVSD are Down syndrome (190685), in which AVSD is the most frequent congenital heart defect, and Ivemark syndrome (208530) (summary by Carmi et al., 1992). For a discussion of genetic heterogeneity of atrioventricular septal defects, see AVSD1 (606215).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482569">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1677130"><div><strong>Houge-Janssens syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1677130</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.">C5193048</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Houge-Janssens syndrome-3 (HJS3) is characterized by global developmental delay apparent from infancy. The phenotype is highly variable: patients may have hypotonia, behavioral abnormalities, and abnormalities on brain imaging, including enlarged ventricles, thin corpus callosum, and sometimes small brainstem. Many develop seizures, sometimes refractory, and some may have nonspecific dysmorphic features. Intellectual impairment can vary from mild to profound, and some patients may benefit from special education and respond well to speech therapy (summary by Reynhout et al., 2019). For a discussion of genetic heterogeneity of HJS, see HJS1 (616355).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1677130">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684871"><div><strong>Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684871</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.">C5231413</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/1684871">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1718072"><div><strong>Sandestig-stefanova syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1718072</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.">C5394118</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sandestig-Stefanova syndrome (SANDSTEF) is an autosomal recessive developmental syndrome characterized by pre- and postnatal microcephaly, trigonocephaly, congenital cataract, microphthalmia, facial gestalt, camptodactyly, loss of periventricular white matter, thin corpus callosum, delayed myelinization, and poor prognosis (Sandestig et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1718072">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1788069"><div><strong>Vertebral, cardiac, tracheoesophageal, renal, and limb defects</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1788069</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.">C5543189</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">VCTERL syndrome is characterized by anomalies of the vertebrae, heart, trachea, esophagus, kidneys, and limbs. Some patients also exhibit craniofacial abnormalities. Incomplete penetrance and markedly variable disease expression have been observed, including intrafamilial variability (Martin et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1788069">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1782612"><div><strong>Cardiomyopathy, dilated, 2D</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1782612</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.">C5543535</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dilated cardiomyopathy-2D (CMD2D) is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation (Ganapathi et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1782612">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794184"><div><strong>Neurodevelopmental disorder with hypotonia and dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794184</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.">C5561974</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794184">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823949"><div><strong>Cardiac valvular defect, developmental</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823949</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.">C5774175</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cardiac valvular dysplasia-1 (CVDP1) is characterized by congenital malformations of the pulmonic, tricuspid, and mitral valves. Structural cardiac defects, including atrial and ventricular septal defects, single left ventricle, and hypoplastic right ventricle have also been observed in affected individuals (Ta-Shma et al., 2017). Genetic Heterogeneity of Cardiac Valvular Dysplasia CVDP2 (620067) is caused by mutation in the ADAMTS19 gene (607513) on chromosome 5q23.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823949">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823996"><div><strong>Developmental delay with short stature, dysmorphic facial features, and sparse hair 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823996</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.">C5774223</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental delay with short stature, dysmorphic facial features, and sparse hair-2 (DEDSSH2) is an autosomal recessive syndromic disorder characterized by the constellation of these features apparent from infancy. Affected individuals may have other abnormalities, including congenital cardiac defects and distal skeletal anomalies (Hawer et al., 2020). For a discussion of genetic heterogeneity of DEDSSH2, see DEDSSH1 (616901).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823996">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824002"><div><strong>Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824002</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.">C5774229</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Birk-Aharoni syndrome (BKAH) is a severe neurodevelopmental disorder characterized developmental delay, impaired intellectual development, absent speech, spastic tetraplegia with central hypotonia, chorea, inability to walk, hearing loss, micropenis, undescended testes, and mildly elevated liver enzymes (Aharoni et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824002">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824069"><div><strong>Cardiomyopathy, dilated, 2H</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824069</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.">C5774296</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CMD2H is an autosomal recessive disorder characterized by rapidly progressive dilated cardiomyopathy and death in early infancy (Verhagen et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824069">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482569" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrioventricular septal defect 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823949" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac valvular defect, developmental</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1782612" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomyopathy, dilated, 2D</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824069" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomyopathy, dilated, 2H</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_444060" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiospondylocarpofacial syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (18)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_393913" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 1q21.1 deletion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823996" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay with short stature, dysmorphic facial features, and sparse hair 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120524" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Holt-Oram syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1677130" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Houge-Janssens syndrome 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic cardiomyopathy 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684871" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794184" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia and dysmorphic facies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824002" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteodysplastic primordial dwarfism, type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1718072" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sandestig-stefanova syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_61232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sotos syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1788069" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertebral, cardiac, tracheoesophageal, renal, and limb defects</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98030" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wrinkly skin syndrome</a></div></span></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/31522266">Diagnosis and Management of Anomalous Left Anterior Descending Coronary Artery from the Pulmonary Artery in an Asymptomatic Infant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta A,
|
||
Husain N,
|
||
Tannous P,
|
||
Hauck A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Cardiol</span>
|
||
2020 Jan;41(1):209-212.
|
||
Epub 2019 Sep 14
|
||
doi: 10.1007/s00246-019-02192-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31522266" target="_blank">31522266</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28404481">Clinical utility and diagnostic accuracy of palm-held, mini-sized ultrasonocardiographic scanner in congenital heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lo MH,
|
||
Huang CF,
|
||
Lin IC,
|
||
Lin YJ,
|
||
Kuo HC,
|
||
Hsieh KS</span><br />
|
||
<span class="medgenPMjournal">J Formos Med Assoc</span>
|
||
2018 Feb;117(2):141-146.
|
||
Epub 2017 Apr 9
|
||
doi: 10.1016/j.jfma.2017.02.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28404481" target="_blank">28404481</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22muscular%20ventricular%20septal%20defect%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 (2)</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/33197132">Apical muscular ventricular septal defect closure via hybrid approach using a right ventricular stay suture.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Escobar AJ,
|
||
Levi DS,
|
||
Van Arsdell GS,
|
||
Perens GS,
|
||
Mohan UR</span><br />
|
||
<span class="medgenPMjournal">Catheter Cardiovasc Interv</span>
|
||
2021 Mar;97(4):E514-E517.
|
||
Epub 2020 Nov 16
|
||
doi: 10.1002/ccd.29370.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33197132" target="_blank">33197132</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31347020">A review of isolated muscular ventricular septal defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miyake T</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr</span>
|
||
2020 Apr;16(2):120-128.
|
||
Epub 2019 Jul 25
|
||
doi: 10.1007/s12519-019-00289-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31347020" target="_blank">31347020</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23627263">Hybrid technique for muscular ventricular septal defect closure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haponiuk I,
|
||
Chojnicki M,
|
||
Jaworski R,
|
||
Steffens M</span><br />
|
||
<span class="medgenPMjournal">J Card Surg</span>
|
||
2013 Jul;28(4):453-5.
|
||
Epub 2013 Apr 30
|
||
doi: 10.1111/jocs.12106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23627263" target="_blank">23627263</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20836201">Late complete left bundle branch block after transcatheter closure of a muscular ventricular septal defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kloecker L,
|
||
Emmel M,
|
||
Sreeram N</span><br />
|
||
<span class="medgenPMjournal">Cardiol Young</span>
|
||
2010 Oct;20(5):560-1.
|
||
doi: 10.1017/s1047951110000788.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20836201" target="_blank">20836201</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9628681">Intraoperative closure of muscular ventricular septal defect in a canine model and application of the technique in a baby.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amin Z,
|
||
Berry JM,
|
||
Foker JE,
|
||
Rocchini AP,
|
||
Bass JL</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
1998 Jun;115(6):1374-6.
|
||
doi: 10.1016/S0022-5223(98)70222-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9628681" target="_blank">9628681</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Muscular%20ventricular%20septal%20defect%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 (73)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39222302">Double-chambered left ventricle misdiagnosed as ventricular septal defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang WM,
|
||
Abulimiti K,
|
||
Guan LN,
|
||
Xing Y,
|
||
Huo Q</span><br />
|
||
<span class="medgenPMjournal">Echocardiography</span>
|
||
2024 Sep;41(9):e15912.
|
||
doi: 10.1111/echo.15912.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39222302" target="_blank">39222302</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31347020">A review of isolated muscular ventricular septal defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miyake T</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr</span>
|
||
2020 Apr;16(2):120-128.
|
||
Epub 2019 Jul 25
|
||
doi: 10.1007/s12519-019-00289-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31347020" target="_blank">31347020</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23601562">Percutaneous closure of a prosthetic pulmonary paravalvular leak.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seery TJ,
|
||
Slack MC</span><br />
|
||
<span class="medgenPMjournal">Congenit Heart Dis</span>
|
||
2014 Jan-Feb;9(1):E19-22.
|
||
Epub 2013 Apr 22
|
||
doi: 10.1111/chd.12058.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23601562" target="_blank">23601562</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22032719">Multimodality evaluation and transcatheter closure of a muscular ventricular septal defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Suh WM,
|
||
Berdjis F,
|
||
Rizi HR,
|
||
Vorobiof G</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2011 Nov 1;58(19):e35.
|
||
doi: 10.1016/j.jacc.2011.03.073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22032719" target="_blank">22032719</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9628681">Intraoperative closure of muscular ventricular septal defect in a canine model and application of the technique in a baby.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amin Z,
|
||
Berry JM,
|
||
Foker JE,
|
||
Rocchini AP,
|
||
Bass JL</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
1998 Jun;115(6):1374-6.
|
||
doi: 10.1016/S0022-5223(98)70222-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9628681" target="_blank">9628681</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Muscular%20ventricular%20septal%20defect%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 (99)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33197132">Apical muscular ventricular septal defect closure via hybrid approach using a right ventricular stay suture.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Escobar AJ,
|
||
Levi DS,
|
||
Van Arsdell GS,
|
||
Perens GS,
|
||
Mohan UR</span><br />
|
||
<span class="medgenPMjournal">Catheter Cardiovasc Interv</span>
|
||
2021 Mar;97(4):E514-E517.
|
||
Epub 2020 Nov 16
|
||
doi: 10.1002/ccd.29370.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33197132" target="_blank">33197132</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25510917">Transcaval access for TAVR across a polyester aortic graft.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lederman RJ,
|
||
O'Neill WW,
|
||
Greenbaum AB</span><br />
|
||
<span class="medgenPMjournal">Catheter Cardiovasc Interv</span>
|
||
2015 Jun;85(7):1270-3.
|
||
Epub 2015 Jan 19
|
||
doi: 10.1002/ccd.25781.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25510917" target="_blank">25510917</a><a href="/pmc/articles/PMC4524738" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23601562">Percutaneous closure of a prosthetic pulmonary paravalvular leak.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seery TJ,
|
||
Slack MC</span><br />
|
||
<span class="medgenPMjournal">Congenit Heart Dis</span>
|
||
2014 Jan-Feb;9(1):E19-22.
|
||
Epub 2013 Apr 22
|
||
doi: 10.1111/chd.12058.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23601562" target="_blank">23601562</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20836201">Late complete left bundle branch block after transcatheter closure of a muscular ventricular septal defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kloecker L,
|
||
Emmel M,
|
||
Sreeram N</span><br />
|
||
<span class="medgenPMjournal">Cardiol Young</span>
|
||
2010 Oct;20(5):560-1.
|
||
doi: 10.1017/s1047951110000788.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20836201" target="_blank">20836201</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16580455">Percutaneous occlusion of a pseudoaneurysm evolving after homograft aortic valve and root replacement with the Amplatzer muscular ventricular septal defect occluder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Graham EM,
|
||
Bandisode VM,
|
||
Atz AM,
|
||
Kline CH,
|
||
Taylor MH,
|
||
Ikonomidis JS</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
2006 Apr;131(4):914-6.
|
||
doi: 10.1016/j.jtcvs.2005.11.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16580455" target="_blank">16580455</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Muscular%20ventricular%20septal%20defect%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 (45)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35392667">Stab Wound to the Right Ventricle With Creation of Ventricular Septal Defect Managed With an Endovascular Occlusive Patch.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anthony Zimmerman S,
|
||
McGrew PR</span><br />
|
||
<span class="medgenPMjournal">Am Surg</span>
|
||
2022 Aug;88(8):1893-1895.
|
||
Epub 2022 Apr 7
|
||
doi: 10.1177/00031348221085667.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35392667" target="_blank">35392667</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31522266">Diagnosis and Management of Anomalous Left Anterior Descending Coronary Artery from the Pulmonary Artery in an Asymptomatic Infant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta A,
|
||
Husain N,
|
||
Tannous P,
|
||
Hauck A</span><br />
|
||
<span class="medgenPMjournal">Pediatr Cardiol</span>
|
||
2020 Jan;41(1):209-212.
|
||
Epub 2019 Sep 14
|
||
doi: 10.1007/s00246-019-02192-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31522266" target="_blank">31522266</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23627263">Hybrid technique for muscular ventricular septal defect closure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haponiuk I,
|
||
Chojnicki M,
|
||
Jaworski R,
|
||
Steffens M</span><br />
|
||
<span class="medgenPMjournal">J Card Surg</span>
|
||
2013 Jul;28(4):453-5.
|
||
Epub 2013 Apr 30
|
||
doi: 10.1111/jocs.12106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23627263" target="_blank">23627263</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20836201">Late complete left bundle branch block after transcatheter closure of a muscular ventricular septal defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kloecker L,
|
||
Emmel M,
|
||
Sreeram N</span><br />
|
||
<span class="medgenPMjournal">Cardiol Young</span>
|
||
2010 Oct;20(5):560-1.
|
||
doi: 10.1017/s1047951110000788.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20836201" target="_blank">20836201</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9628681">Intraoperative closure of muscular ventricular septal defect in a canine model and application of the technique in a baby.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amin Z,
|
||
Berry JM,
|
||
Foker JE,
|
||
Rocchini AP,
|
||
Bass JL</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
1998 Jun;115(6):1374-6.
|
||
doi: 10.1016/S0022-5223(98)70222-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9628681" target="_blank">9628681</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Muscular%20ventricular%20septal%20defect%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 (42)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39948446">Closure of an ascending aorta perforation during a transseptal puncture procedure: transcatheter closure with a muscular ventricular septal defect occluder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Song Y,
|
||
Lin D,
|
||
Zhang X,
|
||
Zhou D</span><br />
|
||
<span class="medgenPMjournal">BMC Cardiovasc Disord</span>
|
||
2025 Feb 13;25(1):97.
|
||
doi: 10.1186/s12872-024-04352-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39948446" target="_blank">39948446</a><a href="/pmc/articles/PMC11823186" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35249850">Transcatheter closure of tubular patent ductus arteriosus using muscular ventricular septal defect devices in infants and small children with congestive heart failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salam A,
|
||
Bautista-Rodriguez C,
|
||
Karsenty C,
|
||
Bouvaist H,
|
||
Piccinelli E,
|
||
Fraisse A</span><br />
|
||
<span class="medgenPMjournal">Arch Cardiovasc Dis</span>
|
||
2022 Mar;115(3):134-141.
|
||
Epub 2022 Feb 24
|
||
doi: 10.1016/j.acvd.2022.01.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35249850" target="_blank">35249850</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27889458">Transcatheter device closure of postmyocardial infarction ventricular septal defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nie YL,
|
||
Lin MC,
|
||
Lin WW,
|
||
Wang CC,
|
||
Chen CP,
|
||
Lin CH,
|
||
Shyu TC,
|
||
Quek YW,
|
||
Jan SL,
|
||
Fu YC</span><br />
|
||
<span class="medgenPMjournal">J Chin Med Assoc</span>
|
||
2017 Jan;80(1):34-38.
|
||
Epub 2016 Nov 23
|
||
doi: 10.1016/j.jcma.2016.02.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27889458" target="_blank">27889458</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25548345">Fluorescein dye-guided intraoperative identification and closure of muscular ventricular septal defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bishnoi AK,
|
||
Garg P,
|
||
Desai M,
|
||
Sharma P,
|
||
Patel J,
|
||
Prajapati M,
|
||
Malhotra A</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr Congenit Heart Surg</span>
|
||
2015 Jan;6(1):59-66.
|
||
doi: 10.1177/2150135114559292.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25548345" target="_blank">25548345</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15104774">Transcatheter closure of congenital muscular ventricular septal defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arora R,
|
||
Trehan V,
|
||
Thakur AK,
|
||
Mehta V,
|
||
Sengupta PP,
|
||
Nigam M</span><br />
|
||
<span class="medgenPMjournal">J Interv Cardiol</span>
|
||
2004 Apr;17(2):109-15.
|
||
doi: 10.1111/j.1540-8183.2004.09872.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15104774" target="_blank">15104774</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Muscular%20ventricular%20septal%20defect%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 (27)</a></div></div>
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