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<!--
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||
UID=9171
|
||
ConceptID=C0018808
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Heart murmur</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9171</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0018808</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Cardiac Murmur; Cardiac Murmurs; Heart Murmur; Heart Murmurs; Murmur, Cardiac; Murmur, Heart; Murmurs, Cardiac; Murmurs, Heart</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Finding of heart murmur (88610006); Observation of heart murmur (88610006); Heart murmur (88610006); Murmur (414786004); Heart murmur (421493004)</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:0030148">HP:0030148</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>
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||
<div class="portlet_content ln">An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart. [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">Heart murmur</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/2848" ref="tree=MeSH" title="MedGen record for Disorder of cardiovascular system">Disorder of cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/116727" ref="tree=MeSH" title="MedGen record for Abnormality of the cardiovascular system">Abnormality of the cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/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/661304" ref="tree=MeSH" title="MedGen record for Abnormal heart sound">Abnormal heart sound</a></span><ul><li><span class="matched_ds">Heart murmur</span><ul><li><span class="TLline"><a href="/medgen/534400" ref="tree=MeSH" title="MedGen record for Continuous heart murmur">Continuous heart murmur</a></span><ul><li><span class="TLline"><a href="/medgen/1714575" ref="tree=MeSH" title="MedGen record for Continuous with Diastolic Spillover Heart Murmur">Continuous with Diastolic Spillover Heart Murmur</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/65426" ref="tree=MeSH" title="MedGen record for Diastolic heart murmur">Diastolic heart murmur</a></span><ul><li><span class="TLline"><a href="/medgen/883990" ref="tree=MeSH" title="MedGen record for Late diastolic murmur">Late diastolic murmur</a></span></li><li><span class="TLline"><a href="/medgen/534398" ref="tree=MeSH" title="MedGen record for Middiastolic murmur">Middiastolic murmur</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/65425" ref="tree=MeSH" title="MedGen record for Functional heart murmur">Functional heart murmur</a></span><ul><li><span class="TLline"><a href="/medgen/507527" ref="tree=MeSH" title="MedGen record for Carotid bruit">Carotid bruit</a></span></li><li><span class="TLline"><a href="/medgen/1715420" ref="tree=MeSH" title="MedGen record for Innocent Pulmonary Systolic Murmur">Innocent Pulmonary Systolic Murmur</a></span></li><li><span class="TLline"><a href="/medgen/1720346" ref="tree=MeSH" title="MedGen record for Mammary Souffle">Mammary Souffle</a></span></li><li><span class="TLline"><a href="/medgen/1709764" ref="tree=MeSH" title="MedGen record for Physiologic Pulmonary Artery Stenosis Murmur">Physiologic Pulmonary Artery Stenosis Murmur</a></span></li><li><span class="TLline"><a href="/medgen/1716431" ref="tree=MeSH" title="MedGen record for Still Murmur">Still Murmur</a></span></li><li><span class="TLline"><a href="/medgen/548538" ref="tree=MeSH" title="MedGen record for Venous hum">Venous hum</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1715843" ref="tree=MeSH" title="MedGen record for Pathologic Murmur">Pathologic Murmur</a></span></li><li><span class="TLline"><a href="/medgen/115909" ref="tree=MeSH" title="MedGen record for Systolic heart murmur">Systolic heart murmur</a></span><ul><li><span class="TLline"><a href="/medgen/1389228" ref="tree=MeSH" title="MedGen record for Ejection Systolic Heart Murmur">Ejection Systolic Heart Murmur</a></span></li><li><span class="TLline"><a href="/medgen/534394" ref="tree=MeSH" title="MedGen record for Holosystolic murmur">Holosystolic murmur</a></span></li><li><span class="TLline"><a href="/medgen/534396" ref="tree=MeSH" title="MedGen record for Late systolic murmur">Late systolic murmur</a></span></li><li><span class="TLline"><a href="/medgen/534395" ref="tree=MeSH" title="MedGen record for Midsystolic murmur">Midsystolic murmur</a></span></li><li><span class="TLline"><a href="/medgen/534399" ref="tree=MeSH" title="MedGen record for Presystolic murmur">Presystolic murmur</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_167073"><div><strong>Chromosome 9p deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167073</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.">C0795830</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare chromosomal anomaly with characteristics of psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167073">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338264"><div><strong>Seckel syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338264</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.">C1847572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Seckel syndrome (SCKL) is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with impaired intellectual development, and a characteristic facial appearance (Borglum et al., 2001). For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338264">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341818"><div><strong>Yunis-Varon syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341818</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.">C1857663</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Yunis-Varon syndrome (YVS) is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341818">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_435914"><div><strong>Mucolipidosis type II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>435914</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.">C2673377</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GNPTAB-related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis IIIa/ß (ML IIIa/ß), and phenotypes intermediate between ML II and ML IIIa/ß. ML II is evident at birth and slowly progressive; death most often occurs in early childhood. Orthopedic abnormalities present at birth may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s). Growth often ceases in the second year of life; contractures develop in all large joints. The skin is thickened, facial features are coarse, and gingiva are hypertrophic. All children have cardiac involvement, most commonly thickening and insufficiency of the mitral valve and, less frequently, the aortic valve. Progressive mucosal thickening narrows the airways, and gradual stiffening of the thoracic cage contributes to respiratory insufficiency, the most common cause of death. ML IIIa/ß becomes evident at about age three years with slow growth rate and short stature; joint stiffness and pain initially in the shoulders, hips, and fingers; gradual mild coarsening of facial features; and normal to mildly impaired cognitive development. Pain from osteoporosis becomes more severe during adolescence. Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common causes of death, typically in early to middle adulthood. Phenotypes intermediate between ML II and ML IIIa/ß are characterized by physical growth in infancy that resembles that of ML II and neuromotor and speech development that resemble that of ML IIIa/ß.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/435914">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_766854"><div><strong>Peroxisome biogenesis disorder 5A (Zellweger)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766854</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.">C3553940</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see 214100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766854">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815773"><div><strong>Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815773</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.">C3809443</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial DNA depletion syndrome-12B is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged-red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al., 2012). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815773">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_862975"><div><strong>ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862975</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.">C4014538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">ADNP-related disorder is characterized by hypotonia, severe speech and motor delay, mild-to-severe intellectual disability, and characteristic facial features (prominent forehead, high anterior hairline, wide and depressed nasal bridge, and short nose with full, upturned nasal tip) based on a cohort of 78 individuals. Features of autism spectrum disorder are common (stereotypic behavior, impaired social interaction). Other common findings include additional behavioral problems, sleep disturbance, brain abnormalities, seizures, feeding issues, gastrointestinal problems, visual dysfunction (hypermetropia, strabismus, cortical visual impairment), musculoskeletal anomalies, endocrine issues including short stature and hormonal deficiencies, cardiac and urinary tract anomalies, and hearing loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/862975">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1616472"><div><strong>Intellectual disability, autosomal dominant 45</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1616472</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.">C4539848</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1616472">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1645760"><div><strong>Cornelia de Lange syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645760</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.">C4551851</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1645760">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684804"><div><strong>Intellectual developmental disorder with impaired language and dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684804</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.">C5231444</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual developmental disorder with impaired language and dysmorphic facies (IDDILF) is an autosomal dominant disorder characterized by global developmental delay apparent from infancy, impaired language development, and dysmorphic facial features, including hypertelorism, epicanthal folds, and abnormal palpebral fissures. Some patients may have additional findings, including feeding difficulties, mild cardiac or genitourinary defects, and distal skeletal anomalies (summary by Balak et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684804">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1748867"><div><strong>Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1748867</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.">C5399977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 2 (MC4DN2) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms at birth or in the first weeks or months of life. Affected individuals have severe hypotonia, often associated with feeding difficulties and respiratory insufficiency necessitating tube feeding and mechanical ventilation. The vast majority of patients develop hypertrophic cardiomyopathy in the first days or weeks of life, which usually leads to death in infancy or early childhood. Patients also show neurologic abnormalities, including developmental delay, nystagmus, fasciculations, dystonia, EEG changes, and brain imaging abnormalities compatible with a diagnosis of Leigh syndrome (see 256000). There may also be evidence of systemic involvement with hepatomegaly and myopathy, although neurogenic muscle atrophy is more common and may resemble spinal muscular atrophy type I (SMA1; 253300). Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure (summary by Papadopoulou et al., 1999). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1748867">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1782096"><div><strong>Coffin-Siris syndrome 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1782096</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.">C5444111</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Coffin-Siris syndrome-12 (CSS12) is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity. Affected individuals may have hypotonia and poor feeding in infancy. There are variable dysmorphic facial features, although most patients do not have the classic hypoplastic fifth digit/nail abnormalities that are often observed in other forms of CSS (Barish et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1782096">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794167"><div><strong>Developmental delay, impaired speech, and behavioral abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794167</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.">C5561957</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794167">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823999"><div><strong>Cardiac valvular dysplasia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823999</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5774226</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cardiac valvular dysplasia-2 (CVDP2) is characterized primarily by congenital stenosis and insufficiency of the semilunar valves, although mild insufficiency of the atrioventricular valves has been observed as well. Other features include subaortic stenosis and dilation of the ascending aorta and/or pulmonary artery in some patients (Wunnemann et al., 2020; Massadeh et al., 2020). For a discussion of genetic heterogeneity of CVDP, see CVDP1 (212093).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823999">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_862975" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823999" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac valvular dysplasia 2</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1748867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_167073" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 9p deletion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1782096" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coffin-Siris syndrome 12</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (14)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645760" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cornelia de Lange syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794167" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental delay, impaired speech, and behavioral abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684804" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder with impaired language and dysmorphic facies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1616472" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 45</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815773" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_435914" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucolipidosis type II</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766854" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peroxisome biogenesis disorder 5A (Zellweger)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338264" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seckel syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341818" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Yunis-Varon 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/35289571">Heart Murmurs in Children: Evaluation and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ford B,
|
||
Lara S,
|
||
Park J</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2022 Mar 1;105(3):250-261.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35289571" target="_blank">35289571</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24464675">Neonatal heart murmur: is it useful for the diagnosis of congenital heart diseases?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taksande A</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr</span>
|
||
2014 Feb;10(1):91.
|
||
doi: 10.1007/s12519-014-0463-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24464675" target="_blank">24464675</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7489433">The preoperative management of the child with a heart murmur.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McEwan AI,
|
||
Birch M,
|
||
Bingham R</span><br />
|
||
<span class="medgenPMjournal">Paediatr Anaesth</span>
|
||
1995;5(3):151-6.
|
||
doi: 10.1111/j.1460-9592.1995.tb00268.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7489433" target="_blank">7489433</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22heart%20murmur%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 (26)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.nice.org.uk/guidance/ng208" target="_blank">UK NICE Guideline NG208, Heart valve disease presenting in adults: investigation and management, 2021</a></h3>
|
||
</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/24740639">Asymptomatic and isolated accessory mitral valve tissue in an adult.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hisatomi K,
|
||
Hashizume K,
|
||
Tanigawa K,
|
||
Miura T,
|
||
Matsukuma S,
|
||
Yokose S,
|
||
Sumi M,
|
||
Eishi K</span><br />
|
||
<span class="medgenPMjournal">Gen Thorac Cardiovasc Surg</span>
|
||
2016 Feb;64(2):105-8.
|
||
Epub 2014 Apr 17
|
||
doi: 10.1007/s11748-014-0399-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24740639" target="_blank">24740639</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25638345">Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun R,
|
||
Liu M,
|
||
Lu L,
|
||
Zheng Y,
|
||
Zhang P</span><br />
|
||
<span class="medgenPMjournal">Cell Biochem Biophys</span>
|
||
2015 Jul;72(3):857-60.
|
||
doi: 10.1007/s12013-015-0551-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25638345" target="_blank">25638345</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25568554">The importance of heart murmur in the neonatal period and justification of echocardiographic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kardasevic M,
|
||
Kardasevic A</span><br />
|
||
<span class="medgenPMjournal">Med Arch</span>
|
||
2014 Aug;68(4):282-4.
|
||
Epub 2014 Jul 31
|
||
doi: 10.5455/medarh.2014.68.282-284.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25568554" target="_blank">25568554</a><a href="/pmc/articles/PMC4240565" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22591735">Hypertrophic cardiomyopathy in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moak JP,
|
||
Kaski JP</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2012 Jul;98(14):1044-54.
|
||
Epub 2012 May 16
|
||
doi: 10.1136/heartjnl-2011-300531.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22591735" target="_blank">22591735</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19591690">Patent arterial duct.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Forsey JT,
|
||
Elmasry OA,
|
||
Martin RP</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2009 Jul 10;4:17.
|
||
doi: 10.1186/1750-1172-4-17.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19591690" target="_blank">19591690</a><a href="/pmc/articles/PMC2716300" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Heart%20murmur%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 (233)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38282536">Rare cardiac tumour-nodular fasciitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ballal N,
|
||
Haryadi N,
|
||
Reyes K</span><br />
|
||
<span class="medgenPMjournal">Cardiol Young</span>
|
||
2024 Apr;34(4):933-934.
|
||
Epub 2024 Jan 29
|
||
doi: 10.1017/S1047951124000052.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38282536" target="_blank">38282536</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38278569">Endocarditis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Butler NR,
|
||
Courtney PA,
|
||
Swegle J</span><br />
|
||
<span class="medgenPMjournal">Prim Care</span>
|
||
2024 Mar;51(1):155-169.
|
||
Epub 2023 Sep 14
|
||
doi: 10.1016/j.pop.2023.07.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38278569" target="_blank">38278569</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35289571">Heart Murmurs in Children: Evaluation and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ford B,
|
||
Lara S,
|
||
Park J</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2022 Mar 1;105(3):250-261.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35289571" target="_blank">35289571</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29406940">Heart Disease in Children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garcia RU,
|
||
Peddy SB</span><br />
|
||
<span class="medgenPMjournal">Prim Care</span>
|
||
2018 Mar;45(1):143-154.
|
||
doi: 10.1016/j.pop.2017.10.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29406940" target="_blank">29406940</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25638345">Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun R,
|
||
Liu M,
|
||
Lu L,
|
||
Zheng Y,
|
||
Zhang P</span><br />
|
||
<span class="medgenPMjournal">Cell Biochem Biophys</span>
|
||
2015 Jul;72(3):857-60.
|
||
doi: 10.1007/s12013-015-0551-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25638345" target="_blank">25638345</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Heart%20murmur%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 (493)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38278569">Endocarditis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Butler NR,
|
||
Courtney PA,
|
||
Swegle J</span><br />
|
||
<span class="medgenPMjournal">Prim Care</span>
|
||
2024 Mar;51(1):155-169.
|
||
Epub 2023 Sep 14
|
||
doi: 10.1016/j.pop.2023.07.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38278569" target="_blank">38278569</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27737409">Fungal Endocarditis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yuan SM</span><br />
|
||
<span class="medgenPMjournal">Braz J Cardiovasc Surg</span>
|
||
2016 May-Jun;31(3):252-255.
|
||
doi: 10.5935/1678-9741.20160026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27737409" target="_blank">27737409</a><a href="/pmc/articles/PMC5062704" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26338243">The painted shoes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noronha N,
|
||
Rosa Alexandre A,
|
||
Cavaca Santos J,
|
||
Rodrigues F</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2015 Sep 3;2015
|
||
doi: 10.1136/bcr-2015-210619.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26338243" target="_blank">26338243</a><a href="/pmc/articles/PMC4567729" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22040708">Diagnosis and management of valvular heart disease in emergency medicine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen RS,
|
||
Bivens MJ,
|
||
Grossman SA</span><br />
|
||
<span class="medgenPMjournal">Emerg Med Clin North Am</span>
|
||
2011 Nov;29(4):801-10, vii.
|
||
doi: 10.1016/j.emc.2011.08.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22040708" target="_blank">22040708</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7083615">Treatment of phenylketonuria during pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Michels VV,
|
||
Justice CL</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
1982 Feb;21(2):141-4.
|
||
doi: 10.1111/j.1399-0004.1982.tb00751.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7083615" target="_blank">7083615</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Heart%20murmur%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 (91)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34529597">Echo Rounds: Partial Anomalous Systemic and Pulmonary Venous Return.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maddali MM,
|
||
Thomas E,
|
||
Al-Farqani A,
|
||
Al-Kindi HN</span><br />
|
||
<span class="medgenPMjournal">A A Pract</span>
|
||
2021 Sep 15;15(9):e01516.
|
||
doi: 10.1213/XAA.0000000000001516.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34529597" target="_blank">34529597</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32788289">Heart murmur with unusual diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">León Durán D,
|
||
Garcia Cañamaque L,
|
||
Fernandez-Friera L</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2020 Sep;106(17):1301-1367.
|
||
doi: 10.1136/heartjnl-2020-316736.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32788289" target="_blank">32788289</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27737409">Fungal Endocarditis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yuan SM</span><br />
|
||
<span class="medgenPMjournal">Braz J Cardiovasc Surg</span>
|
||
2016 May-Jun;31(3):252-255.
|
||
doi: 10.5935/1678-9741.20160026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27737409" target="_blank">27737409</a><a href="/pmc/articles/PMC5062704" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21569592">Congenitally corrected transposition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wallis GA,
|
||
Debich-Spicer D,
|
||
Anderson RH</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2011 May 14;6:22.
|
||
doi: 10.1186/1750-1172-6-22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21569592" target="_blank">21569592</a><a href="/pmc/articles/PMC3116458" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19591690">Patent arterial duct.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Forsey JT,
|
||
Elmasry OA,
|
||
Martin RP</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2009 Jul 10;4:17.
|
||
doi: 10.1186/1750-1172-4-17.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19591690" target="_blank">19591690</a><a href="/pmc/articles/PMC2716300" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Heart%20murmur%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 (170)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37163396">Beyond Heart Murmur Detection: Automatic Murmur Grading From Phonocardiogram.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elola A,
|
||
Aramendi E,
|
||
Oliveira J,
|
||
Renna F,
|
||
Coimbra MT,
|
||
Reyna MA,
|
||
Sameni R,
|
||
Clifford GD,
|
||
Rad AB</span><br />
|
||
<span class="medgenPMjournal">IEEE J Biomed Health Inform</span>
|
||
2023 Aug;27(8):3856-3866.
|
||
Epub 2023 Aug 8
|
||
doi: 10.1109/JBHI.2023.3275039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37163396" target="_blank">37163396</a><a href="/pmc/articles/PMC10482086" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36307565">Mid-aortic Syndrome in a Pediatric Cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brunet-Garcia L,
|
||
Prada Martínez FH,
|
||
Lopez Sainz A,
|
||
Sanchez-de-Toledo J,
|
||
Carretero Bellon JM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Cardiol</span>
|
||
2023 Jan;44(1):168-178.
|
||
Epub 2022 Oct 28
|
||
doi: 10.1007/s00246-022-03036-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36307565" target="_blank">36307565</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32788289">Heart murmur with unusual diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">León Durán D,
|
||
Garcia Cañamaque L,
|
||
Fernandez-Friera L</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2020 Sep;106(17):1301-1367.
|
||
doi: 10.1136/heartjnl-2020-316736.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32788289" target="_blank">32788289</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27719828">A 43-Year-Old Man With Daytime Sleepiness and a Heart Murmur.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Horvath CM,
|
||
Zbinden S,
|
||
Ott SR,
|
||
Brill AK</span><br />
|
||
<span class="medgenPMjournal">Chest</span>
|
||
2016 Oct;150(4):e117-e120.
|
||
doi: 10.1016/j.chest.2016.03.039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27719828" target="_blank">27719828</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17922908">Aorto-ventricular tunnel.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McKay R</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2007 Oct 8;2:41.
|
||
doi: 10.1186/1750-1172-2-41.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17922908" target="_blank">17922908</a><a href="/pmc/articles/PMC2089057" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Heart%20murmur%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 (128)</a></div></div>
|
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|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/38263669">Right Ventricular Outflow Tract Obstruction by an Aneurysm of the Ventricular Membranous Septum: A Systematic Review of Case Reports.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miyake T,
|
||
Inoue T,
|
||
Mushiake S</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr Congenit Heart Surg</span>
|
||
2024 May;15(3):380-388.
|
||
Epub 2024 Jan 23
|
||
doi: 10.1177/21501351231215258.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38263669" target="_blank">38263669</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35181535">Clinical, Microbiological, and Imaging Characteristics of Infective Endocarditis in Latin America: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Urina-Jassir M,
|
||
Jaimes-Reyes MA,
|
||
Martinez-Vernaza S,
|
||
Quiroga-Vergara C,
|
||
Urina-Triana M</span><br />
|
||
<span class="medgenPMjournal">Int J Infect Dis</span>
|
||
2022 Apr;117:312-321.
|
||
Epub 2022 Feb 15
|
||
doi: 10.1016/j.ijid.2022.02.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35181535" target="_blank">35181535</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32036343">Pooled analysis of 1270 infective endocarditis cases in Turkey.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vahabi A,
|
||
Gül F,
|
||
Garakhanova S,
|
||
Sipahi H,
|
||
Sipahi OR</span><br />
|
||
<span class="medgenPMjournal">J Infect Dev Ctries</span>
|
||
2019 Feb 28;13(2):93-100.
|
||
doi: 10.3855/jidc.10056.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32036343" target="_blank">32036343</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26426629">Characteristics and Outcome of Streptococcus pneumoniae Endocarditis in the XXI Century: A Systematic Review of 111 Cases (2000-2013).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Egea V,
|
||
Muñoz P,
|
||
Valerio M,
|
||
de Alarcón A,
|
||
Lepe JA,
|
||
Miró JM,
|
||
Gálvez-Acebal J,
|
||
García-Pavía P,
|
||
Navas E,
|
||
Goenaga MA,
|
||
Fariñas MC,
|
||
Vázquez EG,
|
||
Marín M,
|
||
Bouza E;
|
||
and the GAMES Study Group</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2015 Sep;94(39):e1562.
|
||
doi: 10.1097/MD.0000000000001562.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26426629" target="_blank">26426629</a><a href="/pmc/articles/PMC4616835" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Heart%20murmur%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 (4)</a></div></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22heart%20murmur%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(%22Heart%20murmur%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><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.nice.org.uk/guidance/ng208">NICE, 2021</a><div>UK NICE Guideline NG208, Heart valve disease presenting in adults: investigation and management, 2021</div></li></ul></div>
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