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1070 lines
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121 KiB
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<!--
|
||
UID=44466
|
||
ConceptID=C0026269
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Mitral stenosis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44466</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.">C0026269</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Mitral valve stenosis</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>MS - Mitral stenosis (79619009); Mitral stenosis (79619009); Mitral valve stenosis (79619009)</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:0001718">HP:0001718</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0005852" target="_blank">MONDO:0005852</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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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 abnormal narrowing of the orifice of the mitral valve. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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<div class="portlet_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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0026269[DISCUI]&test_type=Clinical" ref="ncbi_uid=44466">C</a></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 Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=44466" ref="ncbi_uid=44466">V</a></span></span><span class="TLline">Mitral stenosis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/869166" ref="tree=MeSH" title="MedGen record for Abnormal cardiovascular system physiology">Abnormal cardiovascular system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1632330" ref="tree=MeSH" title="MedGen record for Abnormal heart valve physiology">Abnormal heart valve physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1647733" ref="tree=MeSH" title="MedGen record for Abnormal atrioventricular valve physiology">Abnormal atrioventricular valve physiology</a></span><ul><li><span class="TLline"><a href="/medgen/1624687" ref="tree=MeSH" title="MedGen record for Abnormal mitral valve physiology">Abnormal mitral valve physiology</a></span><ul><li><span class="matched_ds">Mitral stenosis</span><ul><li><span class="TLline"><a href="/medgen/57857" ref="tree=MeSH" title="MedGen record for Congenital mitral stenosis">Congenital mitral stenosis</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">
|
||
<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">
|
||
<div class="divPopper rprt" id="rdis_6453"><div><strong>Mucopolysaccharidosis, MPS-I-S</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6453</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.">C0026708</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I: Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal, as is progressive arthropathy involving most joints. By age three years, linear growth decreases. Intellectual disability is progressive and profound but may not be readily apparent in the first year of life. Progressive cardiorespiratory involvement, hearing loss, and corneal clouding are common. Without treatment, death (typically from cardiorespiratory failure) usually occurs within the first ten years of life. Attenuated MPS I: Clinical onset is usually between ages three and ten years. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decade, to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities and psychiatric manifestations can be present later in life. Hearing loss, cardiac valvular disease, respiratory involvement, and corneal clouding are common.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6453">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_44514"><div><strong>Mucopolysaccharidosis type 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44514</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.">C0026709</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mucopolysaccharidosis type VI (MPS6) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44514">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_18013"><div><strong>Neurofibromatosis, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18013</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.">C0027831</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability or behavior problems. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Plexiform neurofibromas can cause pain, neurologic deficits, and abnormalities of involved or adjacent structures. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, vasculopathy, and gastrointestinal, endocrine, or pulmonary disease.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18013">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_162897"><div><strong>Kabuki syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162897</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.">C0796004</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild-to-moderate intellectual disability, and postnatal growth deficiency. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. Functional differences can include: increased susceptibility to infections and autoimmune disorders, seizures, endocrinologic abnormalities (including isolated premature thelarche in females), feeding problems, and hearing loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/162897">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_698415"><div><strong>Autosomal recessive inherited pseudoxanthoma elasticum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>698415</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.">C1275116</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. The most frequent cause of morbidity and disability in PXE is reduced vision due to complications of subretinal neovascularizations and macular atrophy. Other manifestations include premature gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, renovascular hypertension, and cardiovascular complications (angina/myocardial infarction). Most affected individuals live a normal life span.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/698415">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_373381"><div><strong>Spondyloepiphyseal dysplasia with congenital joint dislocations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373381</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.">C1837657</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Chondrodysplasia with congenital joint dislocations, CHST3-related (CDCJD-CHST3) is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), clubfeet, and limitation of range of motion that can involve all large joints. Kyphosis and occasionally scoliosis with slight shortening of the trunk develop in childhood. Minor heart valve dysplasia has been described in several persons. Intellect and vision are normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/373381">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336609"><div><strong>Heterotaxy, visceral, 1, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336609</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.">C1844020</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Heterotaxy Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart Defects Congenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). Reviews Obler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral Heterotaxy See also HTX2 (605376), caused by mutation in the CFC1 gene (605194) on chromosome 2q21; HTX3 (606325), which maps to chromosome 6q21; HTX4 (613751), caused by mutation in the ACVR2B gene (602730) on chromosome 3p22; HTX5 (270100), caused by mutation in the NODAL gene (601265) on chromosome 10q22; HTX6 (614779), caused by mutation in the CCDC11 gene (614759) on chromosome 18q21; HTX7 (616749), caused by mutation in the MMP21 gene (608416) on chromosome 10q26; HTX8 (617205), caused by mutation in the PKD1L1 gene (609721) on chromosome 7p12; HTX9 (618948), caused by mutation in the MNS1 gene (610766) on chromosome 15q21; HTX10 (619607), caused by mutation in the CFAP52 gene (609804) on chromosome 17p13; HTX11 (619608), caused by mutation in the CFAP45 gene (605152) on chromosome 1q23; HTX12 (619702), caused by mutation in the CIROP gene (619703) on chromosome 14q11; HTX13 (621079), caused by mutation in the DAND5 gene (609068) on chromosome 19p13; and HTX14 (621080), caused by mutation in the CIROZ gene (619700) on chromosome 1p36. Genetic Heterogeneity of Multiple Types of Congenital Heart Defects An X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (614980) is caused by mutation in the TAB2 gene (605101) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3; 614954) has been mapped to chromosome 9q31. CHTD4 (615779) is caused by mutation in the NR2F2 gene (107773) on chromosome 15q26. CHTD5 (617912) is caused by mutation in the GATA5 gene (611496) on chromosome 20q13. CHTD6 (613854) is caused by mutation in the GDF1 gene (602880) on chromosome 19p13. CHTD7 (618780) is caused by mutation in the FLT4 gene (136352) on chromosome 5q35. CHTD8 (619657) is caused by mutation in the SMAD2 gene (601366) on chromosome 18q21. CHTD9 (620294) is caused by mutation in the PLXND1 gene (604282) on chromosome 3q22.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336609">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344290"><div><strong>Noonan syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344290</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.">C1854469</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344290">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341563"><div><strong>Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341563</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.">C1856476</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal-lethal disorder to an asymptomatic type. The characterization of three major clinical types (1, 2, and 3) and two clinical forms (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. Cardiopulmonary complications have been described with all the clinical phenotypes, although varying in frequency and severity. Type 1 GD is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and the absence of primary central nervous system disease. Type 2 GD is characterized by primary central nervous system disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years. Type 3 GD is characterized by primary central nervous system disease with childhood onset, a more slowly progressive course, and survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341563">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_479777"><div><strong>Geleophysic dysplasia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>479777</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.">C3278147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal. The characteristic clinical findings are likely to be present in the first year of life. Cardiac, airway, and pulmonary involvement result in death before age five years in approximately 33% of individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/479777">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481684"><div><strong>Geleophysic dysplasia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481684</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.">C3280054</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal. The characteristic clinical findings are likely to be present in the first year of life. Cardiac, airway, and pulmonary involvement result in death before age five years in approximately 33% of individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481684">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854610"><div><strong>Aortic valve disease 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854610</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.">C3887892</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An autosomal dominant form of bicuspid aortic valve caused by mutation(s) in the NOTCH1 gene, encoding neurogenic locus notch homolog protein 1.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854610">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_902892"><div><strong>Noonan syndrome 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902892</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.">C4225280</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902892">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934611"><div><strong>Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934611</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.">C4310644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934611">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1621146"><div><strong>Vertebral, cardiac, renal, and limb defects syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1621146</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.">C4540004</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital NAD deficiency disorder (CNDD) is a multisystem condition in which cardiac, renal, vertebral, and limb anomalies are common, mimicking the clinical features described in VACTERL association. Congenital heart defects can include left-sided heart lesions, right-sided heart lesions, or both. Almost all surviving individuals have short stature, many with disproportionately shortened limbs. Vertebral anomalies, including hemivertebrae and vertebral fusion, occur frequently, often with rib anomalies. Renal anomalies may be severe, including dysplasia/hypoplasia and renal agenesis. Developmental delay / intellectual disability has been reported in more than half of affected individuals, although some affected individuals have had normal development, and some individuals succumbed to their congenital anomalies before developmental assessment could be performed. Other less common features may include cleft palate, eye anomalies, sensorineural hearing loss, tracheoesophageal fistula, polysplenia, anteriorly displaced anus, tethered spinal cord, cystic hygroma, epilepsy, hypothyroidism, and hypoparathyroidism.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1621146">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794157"><div><strong>Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794157</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.">C5561947</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive presynaptic congenital myasthenic syndrome-7B (CMS7B) is characterized by severe generalized muscle weakness apparent from birth; decreased fetal movements may be apparent in utero. Affected infants have generalized hypotonia with poor cry and feeding, head lag, and facial muscle weakness with ptosis. Some patients may have respiratory involvement. Electrophysiologic studies show decreased compound muscle action potentials (CMAPs) and a decremental response to repetitive nerve stimulation. Treatment with 3,4-diaminopyridine and pyridostigmine may result in clinical improvement (summary by Bauche et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794157">Condition Record</a></div></div>
|
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<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="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854610" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aortic valve disease 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_698415" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inherited pseudoxanthoma elasticum</a></div>
|
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<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_341563" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_479777" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Geleophysic dysplasia 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (17)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481684" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Geleophysic dysplasia 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934611" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336609" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 1, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162897" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kabuki syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_44514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis type 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis, MPS-I-S</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_18013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurofibromatosis, type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902892" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344290" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Noonan syndrome 2</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373381" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spondyloepiphyseal dysplasia with congenital joint dislocations</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1621146" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertebral, cardiac, renal, and limb defects syndrome 1</a></div></span></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<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>
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||
<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>
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<div class="nl"><a target="_blank" href="/pubmed/34453165">2021 ESC/EACTS Guidelines for the management of valvular heart disease.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Vahanian A,
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Beyersdorf F,
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Praz F,
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Milojevic M,
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Baldus S,
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Bauersachs J,
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Capodanno D,
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Conradi L,
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De Bonis M,
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De Paulis R,
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Delgado V,
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Freemantle N,
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Gilard M,
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Haugaa KH,
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Jeppsson A,
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Jüni P,
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Pierard L,
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Prendergast BD,
|
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Sádaba JR,
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Tribouilloy C,
|
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Wojakowski W;
|
||
ESC/EACTS Scientific Document Group</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2022 Feb 12;43(7):561-632.
|
||
doi: 10.1093/eurheartj/ehab395.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34453165" target="_blank">34453165</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33332150">2020 ACC/AHA Guideline for the Management of Patients With Valvular Heart Disease: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Otto CM,
|
||
Nishimura RA,
|
||
Bonow RO,
|
||
Carabello BA,
|
||
Erwin JP 3rd,
|
||
Gentile F,
|
||
Jneid H,
|
||
Krieger EV,
|
||
Mack M,
|
||
McLeod C,
|
||
O'Gara PT,
|
||
Rigolin VH,
|
||
Sundt TM 3rd,
|
||
Thompson A,
|
||
Toly C</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2021 Feb 2;143(5):e72-e227.
|
||
Epub 2020 Dec 17
|
||
doi: 10.1161/CIR.0000000000000923.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33332150" target="_blank">33332150</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33332149">2020 ACC/AHA Guideline for the Management of Patients With Valvular Heart Disease: Executive Summary: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Otto CM,
|
||
Nishimura RA,
|
||
Bonow RO,
|
||
Carabello BA,
|
||
Erwin JP 3rd,
|
||
Gentile F,
|
||
Jneid H,
|
||
Krieger EV,
|
||
Mack M,
|
||
McLeod C,
|
||
O'Gara PT,
|
||
Rigolin VH,
|
||
Sundt TM 3rd,
|
||
Thompson A,
|
||
Toly C</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2021 Feb 2;143(5):e35-e71.
|
||
Epub 2020 Dec 17
|
||
doi: 10.1161/CIR.0000000000000932.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33332149" target="_blank">33332149</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22mitral%20stenosis%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 (167)</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/36400067">Valvular Heart Disease: New Concepts in Pathophysiology and Therapeutic Approaches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eleid MF,
|
||
Nkomo VT,
|
||
Pislaru SV,
|
||
Gersh BJ</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Med</span>
|
||
2023 Jan 27;74:155-170.
|
||
Epub 2022 Nov 18
|
||
doi: 10.1146/annurev-med-042921-122533.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36400067" target="_blank">36400067</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31753175">Aortic Stenosis with Other Concomitant Valvular Disease: Aortic Regurgitation, Mitral Regurgitation, Mitral Stenosis, or Tricuspid Regurgitation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Unger P,
|
||
Tribouilloy C</span><br />
|
||
<span class="medgenPMjournal">Cardiol Clin</span>
|
||
2020 Feb;38(1):33-46.
|
||
Epub 2019 Nov 1
|
||
doi: 10.1016/j.ccl.2019.09.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31753175" target="_blank">31753175</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30815750">Rheumatic Mitral Valve Stenosis: Diagnosis and Treatment Options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wunderlich NC,
|
||
Dalvi B,
|
||
Ho SY,
|
||
Küx H,
|
||
Siegel RJ</span><br />
|
||
<span class="medgenPMjournal">Curr Cardiol Rep</span>
|
||
2019 Feb 28;21(3):14.
|
||
doi: 10.1007/s11886-019-1099-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30815750" target="_blank">30815750</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24530661">The year in valvular heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rahimtoola SH</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2014 May 20;63(19):1948-58.
|
||
Epub 2014 Feb 12
|
||
doi: 10.1016/j.jacc.2014.01.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24530661" target="_blank">24530661</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19747723">Mitral stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chandrashekhar Y,
|
||
Westaby S,
|
||
Narula J</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2009 Oct 10;374(9697):1271-83.
|
||
Epub 2009 Sep 9
|
||
doi: 10.1016/S0140-6736(09)60994-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19747723" target="_blank">19747723</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitral%20stenosis%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 (2321)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30815750">Rheumatic Mitral Valve Stenosis: Diagnosis and Treatment Options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wunderlich NC,
|
||
Dalvi B,
|
||
Ho SY,
|
||
Küx H,
|
||
Siegel RJ</span><br />
|
||
<span class="medgenPMjournal">Curr Cardiol Rep</span>
|
||
2019 Feb 28;21(3):14.
|
||
doi: 10.1007/s11886-019-1099-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30815750" target="_blank">30815750</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29173672">Acute Valvular Heart Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maheshwari V,
|
||
Barr B,
|
||
Srivastava M</span><br />
|
||
<span class="medgenPMjournal">Cardiol Clin</span>
|
||
2018 Feb;36(1):115-127.
|
||
Epub 2017 Oct 18
|
||
doi: 10.1016/j.ccl.2017.08.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29173672" target="_blank">29173672</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19747723">Mitral stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chandrashekhar Y,
|
||
Westaby S,
|
||
Narula J</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2009 Oct 10;374(9697):1271-83.
|
||
Epub 2009 Sep 9
|
||
doi: 10.1016/S0140-6736(09)60994-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19747723" target="_blank">19747723</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5286368">Pseudo-mitral stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chung DK,
|
||
Chung EK</span><br />
|
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<span class="medgenPMjournal">W V Med J</span>
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1971 Nov;67(11):342-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5286368" target="_blank">5286368</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/13272809">Mitral regurgitation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">JEWETT JF</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1955 Nov 17;253(20):885.
|
||
doi: 10.1056/NEJM195511172532015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/13272809" target="_blank">13272809</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitral%20stenosis%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 (2002)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37160162">Why Does Rivaroxaban Not Work in Severe Mitral Stenosis?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marongiu F,
|
||
Barcellona D</span><br />
|
||
<span class="medgenPMjournal">Semin Thromb Hemost</span>
|
||
2024 Mar;50(2):303-306.
|
||
Epub 2023 May 9
|
||
doi: 10.1055/s-0043-1768938.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37160162" target="_blank">37160162</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34887047">The Role of Invasive Hemodynamics in Guiding Contemporary Transcatheter Valvular Interventions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alkhouli M,
|
||
Eleid MF,
|
||
Nishimura RA,
|
||
Rihal CS</span><br />
|
||
<span class="medgenPMjournal">JACC Cardiovasc Interv</span>
|
||
2021 Dec 13;14(23):2531-2544.
|
||
doi: 10.1016/j.jcin.2021.08.072.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34887047" target="_blank">34887047</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33896870">Syncope with Left Atrial Floating Thrombus During Anticoagulation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaneko Y,
|
||
Yagi N,
|
||
Suzuki T,
|
||
Nakagawa Y</span><br />
|
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<span class="medgenPMjournal">Intern Med</span>
|
||
2021 Oct 15;60(20):3343.
|
||
Epub 2021 Apr 26
|
||
doi: 10.2169/internalmedicine.7315-21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33896870" target="_blank">33896870</a><a href="/pmc/articles/PMC8580770" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32646692">Transcatheter Aortic Valve Replacement in Patients With Multivalvular Heart Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan F,
|
||
Okuno T,
|
||
Malebranche D,
|
||
Lanz J,
|
||
Praz F,
|
||
Stortecky S,
|
||
Windecker S,
|
||
Pilgrim T</span><br />
|
||
<span class="medgenPMjournal">JACC Cardiovasc Interv</span>
|
||
2020 Jul 13;13(13):1503-1514.
|
||
doi: 10.1016/j.jcin.2020.03.052.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32646692" target="_blank">32646692</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29066331">Mitral Stenosis After Mitral Valve Repair for Degenerative Mitral Regurgitation-Lessons Learned.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lazar HL</span><br />
|
||
<span class="medgenPMjournal">Can J Cardiol</span>
|
||
2017 Dec;33(12):1522-1523.
|
||
Epub 2017 Aug 19
|
||
doi: 10.1016/j.cjca.2017.08.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29066331" target="_blank">29066331</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitral%20stenosis%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 (1100)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24530661">The year in valvular heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rahimtoola SH</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2014 May 20;63(19):1948-58.
|
||
Epub 2014 Feb 12
|
||
doi: 10.1016/j.jacc.2014.01.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24530661" target="_blank">24530661</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18055261">Cardiovocal syndrome: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mulpuru SK,
|
||
Vasavada BC,
|
||
Punukollu GK,
|
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Patel AG</span><br />
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<span class="medgenPMjournal">Heart Lung Circ</span>
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2008 Feb;17(1):1-4.
|
||
Epub 2007 Dec 4
|
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doi: 10.1016/j.hlc.2007.04.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18055261" target="_blank">18055261</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11875603">Maternal deaths due to pre-existing cardiac disease.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Naidoo DP,
|
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Desai DK,
|
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Moodley J</span><br />
|
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<span class="medgenPMjournal">Cardiovasc J S Afr</span>
|
||
2002 Jan-Feb;13(1):17-20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11875603" target="_blank">11875603</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10149855">Indications and outcome of valvuloplasty.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Cormier B,
|
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Vahanian A</span><br />
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<span class="medgenPMjournal">Curr Opin Cardiol</span>
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1992 Apr;7(2):222-8.
|
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doi: 10.1097/00001573-199204000-00005.
|
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<span class="bold">PMID: </span><a href="/pubmed/10149855" target="_blank">10149855</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2406521">Percutaneous balloon valvuloplasty.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Nishimura RA,
|
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Holmes DR Jr,
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Reeder GS</span><br />
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<span class="medgenPMjournal">Mayo Clin Proc</span>
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1990 Feb;65(2):198-220.
|
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doi: 10.1016/s0025-6196(12)65015-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2406521" target="_blank">2406521</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitral%20stenosis%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 (1648)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30932184">Cardiac risk prediction model for pregnant women with structural heart disease in Eastern China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fu Q,
|
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Wang XJ,
|
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Wang BS,
|
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Lin JH</span><br />
|
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<span class="medgenPMjournal">Int J Gynaecol Obstet</span>
|
||
2019 Jun;145(3):324-330.
|
||
Epub 2019 Apr 23
|
||
doi: 10.1002/ijgo.12820.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30932184" target="_blank">30932184</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27219741">Echocardiographic Features that May Predict Acute Left Ventricular Failure after Mitral Valve Replacement in Patients with Severe Mitral Stenosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Essandoh MK</span><br />
|
||
<span class="medgenPMjournal">Anesthesiology</span>
|
||
2016 Oct;125(4):808.
|
||
doi: 10.1097/ALN.0000000000001182.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27219741" target="_blank">27219741</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23527915">Anatomical features of rheumatic and non-rheumatic mitral stenosis: potential additional value of three-dimensional echocardiography.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Krapf L,
|
||
Dreyfus J,
|
||
Cueff C,
|
||
Lepage L,
|
||
Brochet E,
|
||
Vahanian A,
|
||
Messika-Zeitoun D</span><br />
|
||
<span class="medgenPMjournal">Arch Cardiovasc Dis</span>
|
||
2013 Feb;106(2):111-5.
|
||
Epub 2013 Jan 23
|
||
doi: 10.1016/j.acvd.2012.11.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23527915" target="_blank">23527915</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15285221">Natural history of mitral stenosis and echocardiographic criteria and pitfalls in selecting patients for balloon valvuloplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berger M</span><br />
|
||
<span class="medgenPMjournal">Adv Cardiol</span>
|
||
2004;41:87-94.
|
||
doi: 10.1159/000079787.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15285221" target="_blank">15285221</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12060907">Mitral commissurotomy and valve replacement for mitral stenosis: observations on selection of surgical procedures.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Isom OW</span><br />
|
||
<span class="medgenPMjournal">Adv Cardiol</span>
|
||
2002;39:114-21.
|
||
doi: 10.1159/000058917.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12060907" target="_blank">12060907</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitral%20stenosis%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 (1371)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/34878131">Management of mitral stenosis: a systematic review of clinical practice guidelines and recommendations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galusko V,
|
||
Ionescu A,
|
||
Edwards A,
|
||
Sekar B,
|
||
Wong K,
|
||
Patel K,
|
||
Lloyd G,
|
||
Ricci F,
|
||
Khanji MY</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J Qual Care Clin Outcomes</span>
|
||
2022 Sep 5;8(6):602-618.
|
||
doi: 10.1093/ehjqcco/qcab083.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34878131" target="_blank">34878131</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33687594">Transcatheter Mitral Valve Implantation Systematic Review: Focus on Transseptal Approach and Mitral Annulus Calcification.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ben-Ali W,
|
||
Ibrahim R,
|
||
Rodès-Cabeau J,
|
||
von Bardeleben RS,
|
||
Mylotte D,
|
||
Granada J,
|
||
Modine T</span><br />
|
||
<span class="medgenPMjournal">Curr Cardiol Rep</span>
|
||
2021 Mar 9;23(4):37.
|
||
doi: 10.1007/s11886-021-01466-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33687594" target="_blank">33687594</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33070306">Percutaneous balloon mitral valvotomy during pregnancy: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sreerama D,
|
||
Surana M,
|
||
Moolchandani K,
|
||
Chaturvedula L,
|
||
Keepanasseril A,
|
||
Keepanasseril A,
|
||
Pillai AA,
|
||
Nair NS</span><br />
|
||
<span class="medgenPMjournal">Acta Obstet Gynecol Scand</span>
|
||
2021 Apr;100(4):666-675.
|
||
Epub 2020 Nov 2
|
||
doi: 10.1111/aogs.14029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33070306" target="_blank">33070306</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32303631">Cerebrovascular events after transcatheter mitral valve interventions: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Châteauneuf G,
|
||
Nazif TM,
|
||
Beaupré F,
|
||
Kodali S,
|
||
Rodés-Cabau J,
|
||
Paradis JM</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2020 Nov;106(22):1759-1768.
|
||
Epub 2020 Apr 17
|
||
doi: 10.1136/heartjnl-2019-316331.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32303631" target="_blank">32303631</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18055261">Cardiovocal syndrome: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mulpuru SK,
|
||
Vasavada BC,
|
||
Punukollu GK,
|
||
Patel AG</span><br />
|
||
<span class="medgenPMjournal">Heart Lung Circ</span>
|
||
2008 Feb;17(1):1-4.
|
||
Epub 2007 Dec 4
|
||
doi: 10.1016/j.hlc.2007.04.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18055261" target="_blank">18055261</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitral%20stenosis%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (24)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
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||
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|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0026269%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C0026269%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (7)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0026269%5bDISCUI%5d" target="_blank">See all (7)</a></total></li>
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Mitral%20stenosis" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22mitral%20stenosis%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Mitral%20stenosis%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Mitral%20stenosis" target="_blank">MedlinePlus</a></li></ul></div>
|
||
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|
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<div class="portlet_head">
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<a href="/pubmed/clinical?term=Mitral%20stenosis" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Mitral%20stenosis%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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|
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<h3>Related information</h3>
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<div class="portlet_content DiscoveryDbLinks">
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<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=44466" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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</li>
|
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<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0026269[DISCUI]" ref="log$=recordlinks">GTR</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0026269[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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||
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||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=44466" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=44466" ref="log$=recordlinks">PMC Articles</a>
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||
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||
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<h3>Recent activity</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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Clear
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn Off
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn On
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<ul id="activity">
|
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<li class="ra_rcd ralinkpopper two_line">
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||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d4d75fcde49f3df7b7dca7">Mitral stenosis</a>
|
||
<div class="ralinkpop offscreen_noflow">Mitral stenosis<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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</li>
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<li class="ra_rcd ralinkpopper two_line">
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d4d75d84f3725e591749c4">Neurofibrosarcoma</a>
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<div class="ralinkpop offscreen_noflow">Neurofibrosarcoma<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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