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<meta name="keywords" content="C1866076, finding, malignant hyperpyrexia susceptibility type 6, malignant hyperthermia susceptibility 6, malignant hyperthermia susceptibility type 6, malignant hyperthermia, susceptibility to, 6, malignant hyperthermia, susceptibility to, type 6, mhs6, mhs6-related malignant hyperthermia susceptibility, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=356150
|
||
ConceptID=C1866076
|
||
-->
|
||
<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1146/bin/mhs-Image002.gif" src-large="/books/NBK1146/bin/mhs-Image002.jpg" /></a><br /><a href="/books/NBK1146/figure/mhs.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1146/bin/mhs-Image001.gif" src-large="/books/NBK1146/bin/mhs-Image001.jpg" /></a><br /><a href="/books/NBK1146/figure/mhs.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Malignant hyperthermia, susceptibility to, 6</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356150</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.">C1866076</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Malignant hyperpyrexia susceptibility type 6; Malignant hyperthermia susceptibility type 6; MHS6-Related Malignant Hyperthermia Susceptibility</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011164" target="_blank">MONDO:0011164</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/601888" target="_blank">601888</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1146" target="_blank">Malignant Hyperthermia Susceptibility</a></div><div>Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1146#mhs.Summary" target="NBK1146">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1146#mhs.Diagnosis" target="NBK1146">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1146#mhs.Clinical_Characteristics" target="NBK1146">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1146#mhs.Genetically_Related_Allelic_Disorder" target="NBK1146">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1146#mhs.Differential_Diagnosis" target="NBK1146">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1146#mhs.Management" target="NBK1146">Management</a> | <a class="medgenPMinfo" href="/books/NBK1146#mhs.Genetic_Counseling" target="NBK1146">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1146#mhs.Resources" target="NBK1146">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1146#mhs.Molecular_Genetics" target="NBK1146">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1146#mhs.Chapter_Notes" target="NBK1146">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1146#mhs.References" target="NBK1146">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Henry Rosenberg | Nyamkhishig Sambuughin | Sheila Riazi<i>, et. al.</i> <a href="/books/NBK1146" target="NBK1146" title="NCBI Bookshelf: Malignant Hyperthermia Susceptibility">view full author information</a></div></div>
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</div>
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||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Malignant hyperthermia (MH) is a life threatening disorder triggered in susceptible individuals on exposure to commonly used inhalational anaesthetics, e.g., halothane and the depolarizing muscle relaxant suxamethonium (succinyl choline) (summary by Robinson et al., 1997)
|
||
For a phenotypic description and a discussion of genetic heterogeneity of susceptibility to malignant hyperthermia, see MHS1 (145600). <a target="_blank" href="http://www.omim.org/entry/601888">http://www.omim.org/entry/601888</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Affected individuals may be at increased risk for "awake" malignant hyperthermia, in which the severe reaction occurs in response to physical activity, often while sick, rather than in reaction to exposure to a triggering drug.<br /><br />While malignant hyperthermia often occurs in people without other serious medical problems, certain inherited muscle diseases (including central core disease, multiminicore disease, and STAC3 disorder) are associated with malignant hyperthermia susceptibility.<br /><br />People at increased risk of this disorder are said to have malignant hyperthermia susceptibility. Affected individuals may never know they have the condition unless they have a severe reaction to anesthesia during a surgical procedure or they undergo testing (for instance, if susceptibility is suspected because a family member had a severe reaction). Malignant hyperthermia may not occur every time anesthesia is used. Many individuals who develop a severe reaction have previously been exposed to a triggering drug and not had a reaction.<br /><br />Malignant hyperthermia is a severe reaction to particular anesthetic drugs that are often used during surgery and other invasive procedures. Specifically, this reaction occurs in response to some anesthetic gases, which are used to block the sensation of pain, either given alone or in combination with a muscle relaxant that is used to temporarily paralyze a person during a surgical procedure. If given these drugs, people at risk of malignant hyperthermia may experience a rapid increase in heart rate and body temperature (hyperthermia), abnormally fast breathing, muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), and increased acid levels in the blood and other tissues (acidosis). Without prompt treatment and cessation of the drugs, the body's reaction can cause multiple organs to be unable to function, including the heart (cardiac arrest) and kidneys (renal failure), and it can cause a blood clotting abnormality called disseminated intravascular coagulation. These complications may be life-threatening. (In medicine, the term malignant refers to conditions that are dangerous to one's health.) <a target="_blank" href="https://medlineplus.gov/genetics/condition/malignant-hyperthermia">https://medlineplus.gov/genetics/condition/malignant-hyperthermia</a></div></div>
|
||
</div>
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||
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1813067" ref="tree=GTR&ncbi_uid=1813067&link_uid=1813067" title="View MedGen record for 'Rare disease with malignant hyperthermia'">Rare disease with malignant hyperthermia</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850625[DISCUI]&test_type=Clinical" ref="ncbi_uid=340586">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340586" target="_blank" href="/omim/255995">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK542808/" ref="ncbi_uid=340586">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=340586" ref="ncbi_uid=340586">V</a></span></span><span class="TLline"><a href="/medgen/340586" ref="tree=GTR&ncbi_uid=340586&link_uid=340586" title="View MedGen record for 'Bailey-Bloch congenital myopathy'">Bailey-Bloch congenital myopathy</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1840365[DISCUI]&test_type=Clinical" ref="ncbi_uid=327082">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=327082" target="_blank" href="/omim/180901">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=327082" ref="ncbi_uid=327082">V</a></span></span><span class="TLline"><a href="/medgen/327082" ref="tree=GTR&ncbi_uid=327082&link_uid=327082" title="View MedGen record for 'King Denborough syndrome'">King Denborough syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1830388" target="_blank" href="/omim/145600">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1830388" ref="tree=GTR&ncbi_uid=1830388&link_uid=1830388" title="View MedGen record for 'Malignant hyperthermia'">Malignant hyperthermia</a></span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/1814609" ref="tree=GTR&ncbi_uid=1814609&link_uid=1814609" title="View MedGen record for 'Exercise-induced malignant hyperthermia'">Exercise-induced malignant hyperthermia</a></span><ul><li class="TLclosed"><span class="TLline"><a href="/medgen/808142" ref="tree=GTR&ncbi_uid=808142&link_uid=808142" title="View MedGen record for 'Malignant hyperthermia and exertional rhabdomyolosis'">Malignant hyperthermia and exertional rhabdomyolosis</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0024591[DISCUI]&test_type=Clinical" ref="ncbi_uid=9867">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=9867" target="_blank" href="/omim/145600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1146/" ref="ncbi_uid=9867">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=9867" ref="ncbi_uid=9867">V</a></span></span><span class="TLline"><a href="/medgen/9867" ref="tree=GTR&ncbi_uid=9867&link_uid=9867" title="View MedGen record for 'Malignant hyperthermia of anesthesia'">Malignant hyperthermia of anesthesia</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1146/" ref="ncbi_uid=1728755">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1728755" ref="ncbi_uid=1728755">V</a></span></span><span class="TLline"><a href="/medgen/1728755" ref="tree=GTR&ncbi_uid=1728755&link_uid=1728755" title="View MedGen record for 'Malignant hyperthermia, susceptibility to'">Malignant hyperthermia, susceptibility to</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2930980[DISCUI]&test_type=Clinical" ref="ncbi_uid=443948">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=443948" target="_blank" href="/omim/145600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1146/" ref="ncbi_uid=443948">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=443948" ref="ncbi_uid=443948">V</a></span></span><span class="TLline"><a href="/medgen/443948" ref="tree=GTR&ncbi_uid=443948&link_uid=443948" title="View MedGen record for 'Malignant hyperthermia, susceptibility to, 1'">Malignant hyperthermia, susceptibility to, 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2930981[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=419301">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419301" target="_blank" href="/omim/154275">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1146/" ref="ncbi_uid=419301">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/419301" ref="tree=GTR&ncbi_uid=419301&link_uid=419301" title="View MedGen record for 'Malignant hyperthermia, susceptibility to, 2'">Malignant hyperthermia, susceptibility to, 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2930982[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=418956">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=418956" target="_blank" href="/omim/154276">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1146/" ref="ncbi_uid=418956">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/418956" ref="tree=GTR&ncbi_uid=418956&link_uid=418956" title="View MedGen record for 'Malignant hyperthermia, susceptibility to, 3'">Malignant hyperthermia, susceptibility to, 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838102[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=324944">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324944" target="_blank" href="/omim/600467">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1146/" ref="ncbi_uid=324944">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/324944" ref="tree=GTR&ncbi_uid=324944&link_uid=324944" title="View MedGen record for 'Malignant hyperthermia, susceptibility to, 4'">Malignant hyperthermia, susceptibility to, 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866077[DISCUI]&test_type=Clinical" ref="ncbi_uid=356151">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356151" target="_blank" href="/omim/114208">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1146/" ref="ncbi_uid=356151">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=356151" ref="ncbi_uid=356151">V</a></span></span><span class="TLline"><a href="/medgen/356151" ref="tree=GTR&ncbi_uid=356151&link_uid=356151" title="View MedGen record for 'Malignant hyperthermia, susceptibility to, 5'">Malignant hyperthermia, susceptibility to, 5</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866076[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=356150">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356150" target="_blank" href="/omim/601888">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1146/" ref="ncbi_uid=356150">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Malignant hyperthermia, susceptibility to, 6</span></li></ul></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0270962[DISCUI]&test_type=Clinical" ref="ncbi_uid=75731">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0270962[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=75731">R</a></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=75731" ref="ncbi_uid=75731">V</a></span></span><span class="TLline"><a href="/medgen/75731" ref="tree=GTR&ncbi_uid=75731&link_uid=75731" title="View MedGen record for 'Multiminicore myopathy'">Multiminicore myopathy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5830701[DISCUI]&test_type=Clinical" ref="ncbi_uid=1841337">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1841337" target="_blank" href="/omim/117000">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1841337" ref="ncbi_uid=1841337">V</a></span></span><span class="TLline"><a href="/medgen/1841337" ref="tree=GTR&ncbi_uid=1841337&link_uid=1841337" title="View MedGen record for 'Central core myopathy'">Central core myopathy</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850674[DISCUI]&test_type=Clinical" ref="ncbi_uid=340597">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340597" target="_blank" href="/omim/180901">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=340597" ref="ncbi_uid=340597">V</a></span></span><span class="TLline"><a href="/medgen/340597" ref="tree=GTR&ncbi_uid=340597&link_uid=340597" title="View MedGen record for 'Congenital multicore myopathy with external ophthalmoplegia'">Congenital multicore myopathy with external ophthalmoplegia</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347490" target="_blank" href="/omim/217150">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/347490" ref="tree=GTR&ncbi_uid=347490&link_uid=347490" title="View MedGen record for 'Multiple pterygium-malignant hyperthermia syndrome'">Multiple pterygium-malignant hyperthermia syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/10320" ref="tree=GTR&ncbi_uid=10320&link_uid=10320" title="View MedGen record for 'Neuroleptic malignant syndrome'">Neuroleptic malignant syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/152119" ref="tree=GTR&ncbi_uid=152119&link_uid=152119" title="View MedGen record for 'Serotonin syndrome'">Serotonin syndrome</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867398" ref="tree=MeSH" title="MedGen record for Abnormality of metabolism/homeostasis">Abnormality of metabolism/homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/868551" ref="tree=MeSH" title="MedGen record for Abnormal homeostasis">Abnormal homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/330395" ref="tree=MeSH" title="MedGen record for Abnormality of temperature regulation">Abnormality of temperature regulation</a></span><ul><li><span class="TLline"><a href="/medgen/1830388" ref="tree=MeSH" title="MedGen record for Malignant hyperthermia">Malignant hyperthermia</a></span><ul><li><span class="TLline"><a href="/medgen/1728755" ref="tree=MeSH" title="MedGen record for Malignant hyperthermia, susceptibility to">Malignant hyperthermia, susceptibility to</a></span><ul><li><span class="matched_ds">Malignant hyperthermia, susceptibility to, 6</span></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_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/34404389">Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Haverfield EV,
|
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Esplin ED,
|
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Aguilar SJ,
|
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Hatchell KE,
|
||
Ormond KE,
|
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Hanson-Kahn A,
|
||
Atwal PS,
|
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Macklin-Mantia S,
|
||
Hines S,
|
||
Sak CW,
|
||
Tucker S,
|
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Bleyl SB,
|
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Hulick PJ,
|
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Gordon OK,
|
||
Velsher L,
|
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Gu JYJ,
|
||
Weissman SM,
|
||
Kruisselbrink T,
|
||
Abel C,
|
||
Kettles M,
|
||
Slavotinek A,
|
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Mendelsohn BA,
|
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Green RC,
|
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Aradhya S,
|
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Nussbaum RL</span><br />
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<span class="medgenPMjournal">BMC Med</span>
|
||
2021 Aug 18;19(1):199.
|
||
doi: 10.1186/s12916-021-01999-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34404389" target="_blank">34404389</a><a href="/pmc/articles/PMC8371767" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/30768455">Consensus Statement of the Malignant Hyperthermia Association of the United States on Unresolved Clinical Questions Concerning the Management of Patients With Malignant Hyperthermia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Litman RS,
|
||
Smith VI,
|
||
Larach MG,
|
||
Mayes L,
|
||
Shukry M,
|
||
Theroux MC,
|
||
Watt S,
|
||
Wong CA</span><br />
|
||
<span class="medgenPMjournal">Anesth Analg</span>
|
||
2019 Apr;128(4):652-659.
|
||
doi: 10.1213/ANE.0000000000004039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30768455" target="_blank">30768455</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/9204791">AANA Journal course: update for nurse anesthetists--genetic testing for malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Curtis S</span><br />
|
||
<span class="medgenPMjournal">AANA J</span>
|
||
1996 Dec;64(6):557-62.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9204791" target="_blank">9204791</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(malignant%20hyperthermia%2C%20susceptibility%20to%2C%206)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (9)</a></div><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.orpha.net/data/patho/Pro/en/Emergency_MalignantHyperthermia-enPro649.pdf" target="_blank">Orphanet Emergency Guidelines: Malignant hyperthermia</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/36208971">Functional analysis of RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">White R,
|
||
Schiemann AH,
|
||
Burling SM,
|
||
Bjorksten A,
|
||
Bulger T,
|
||
Gillies R,
|
||
Hopkins PM,
|
||
Kamsteeg EJ,
|
||
Machon RG,
|
||
Massey S,
|
||
Miller D,
|
||
Perry M,
|
||
Snoeck MMJ,
|
||
Stephens J,
|
||
Street N,
|
||
van den Bersselaar LR,
|
||
Stowell KM</span><br />
|
||
<span class="medgenPMjournal">Br J Anaesth</span>
|
||
2022 Dec;129(6):879-888.
|
||
Epub 2022 Oct 6
|
||
doi: 10.1016/j.bja.2022.08.029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36208971" target="_blank">36208971</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26258863">Is there a link between exertional heat stroke and susceptibility to malignant hyperthermia?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sagui E,
|
||
Montigon C,
|
||
Abriat A,
|
||
Jouvion A,
|
||
Duron-Martinaud S,
|
||
Canini F,
|
||
Zagnoli F,
|
||
Bendahan D,
|
||
Figarella-Branger D,
|
||
Brégigeon M,
|
||
Brosset C</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2015;10(8):e0135496.
|
||
Epub 2015 Aug 10
|
||
doi: 10.1371/journal.pone.0135496.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26258863" target="_blank">26258863</a><a href="/pmc/articles/PMC4530942" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19047693">Genetics and susceptibility to malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anderson-Pompa K,
|
||
Foster A,
|
||
Parker L,
|
||
Wilks L,
|
||
Cheek DJ,
|
||
Mill TD,
|
||
Dore M,
|
||
McSherry G</span><br />
|
||
<span class="medgenPMjournal">Crit Care Nurse</span>
|
||
2008 Dec;28(6):32-6; quiz 37.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19047693" target="_blank">19047693</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9283674">Malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miranda AD,
|
||
Donovan LA,
|
||
Schuster LL,
|
||
Gerber DR</span><br />
|
||
<span class="medgenPMjournal">Am J Crit Care</span>
|
||
1997 Sep;6(5):368-74; quiz 375-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9283674" target="_blank">9283674</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3944968">Malignant hyperthermia: nightmare for anesthesiologists--and patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Merz B</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
1986 Feb 14;255(6):709-11, 714-5.
|
||
doi: 10.1001/jama.255.6.709.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3944968" target="_blank">3944968</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malignant%20hyperthermia%2C%20susceptibility%20to%2C%206%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 (81)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35121058">Patient suspected susceptibility to malignant hyperthermia: impact of the disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodrigues G,
|
||
Andrade PV,
|
||
Santos JMD,
|
||
Castro I,
|
||
Amaral JLGD,
|
||
Silva HCAD</span><br />
|
||
<span class="medgenPMjournal">Braz J Anesthesiol</span>
|
||
2023 Mar-Apr;73(2):138-144.
|
||
Epub 2022 Feb 2
|
||
doi: 10.1016/j.bjane.2021.10.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35121058" target="_blank">35121058</a><a href="/pmc/articles/PMC10068541" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32898259">Genomic Screening for Malignant Hyperthermia Susceptibility.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biesecker LG,
|
||
Dirksen RT,
|
||
Girard T,
|
||
Hopkins PM,
|
||
Riazi S,
|
||
Rosenberg H,
|
||
Stowell K,
|
||
Weber J</span><br />
|
||
<span class="medgenPMjournal">Anesthesiology</span>
|
||
2020 Dec 1;133(6):1277-1282.
|
||
doi: 10.1097/ALN.0000000000003547.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32898259" target="_blank">32898259</a><a href="/pmc/articles/PMC7658016" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19047693">Genetics and susceptibility to malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anderson-Pompa K,
|
||
Foster A,
|
||
Parker L,
|
||
Wilks L,
|
||
Cheek DJ,
|
||
Mill TD,
|
||
Dore M,
|
||
McSherry G</span><br />
|
||
<span class="medgenPMjournal">Crit Care Nurse</span>
|
||
2008 Dec;28(6):32-6; quiz 37.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19047693" target="_blank">19047693</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16227063">Toxin-induced hyperthermic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rusyniak DE,
|
||
Sprague JE</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
2005 Nov;89(6):1277-96.
|
||
doi: 10.1016/j.mcna.2005.06.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16227063" target="_blank">16227063</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4718256">A new screening test for susceptibility to malignant hyperpyrexia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ellis FR,
|
||
Harriman DG</span><br />
|
||
<span class="medgenPMjournal">Br J Anaesth</span>
|
||
1973 Jun;45(6):638.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4718256" target="_blank">4718256</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malignant%20hyperthermia%2C%20susceptibility%20to%2C%206%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 (127)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33728476">HSP27 role in cardioprotection by modulating chemotherapeutic doxorubicin-induced cell death.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramani S,
|
||
Park S</span><br />
|
||
<span class="medgenPMjournal">J Mol Med (Berl)</span>
|
||
2021 Jun;99(6):771-784.
|
||
Epub 2021 Mar 16
|
||
doi: 10.1007/s00109-021-02048-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33728476" target="_blank">33728476</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30768455">Consensus Statement of the Malignant Hyperthermia Association of the United States on Unresolved Clinical Questions Concerning the Management of Patients With Malignant Hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Litman RS,
|
||
Smith VI,
|
||
Larach MG,
|
||
Mayes L,
|
||
Shukry M,
|
||
Theroux MC,
|
||
Watt S,
|
||
Wong CA</span><br />
|
||
<span class="medgenPMjournal">Anesth Analg</span>
|
||
2019 Apr;128(4):652-659.
|
||
doi: 10.1213/ANE.0000000000004039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30768455" target="_blank">30768455</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16227063">Toxin-induced hyperthermic syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rusyniak DE,
|
||
Sprague JE</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
2005 Nov;89(6):1277-96.
|
||
doi: 10.1016/j.mcna.2005.06.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16227063" target="_blank">16227063</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3537672">Malignant hyperthermia--a clinical review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haddad FS</span><br />
|
||
<span class="medgenPMjournal">Middle East J Anaesthesiol</span>
|
||
1986 Oct;8(6):469-85.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3537672" target="_blank">3537672</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6929328">Effective use of dantrolene in a patient susceptible to malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gallagher DM,
|
||
Hyer RL</span><br />
|
||
<span class="medgenPMjournal">J Oral Surg</span>
|
||
1980 Jun;38(6):438-40.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6929328" target="_blank">6929328</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malignant%20hyperthermia%2C%20susceptibility%20to%2C%206%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 (56)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33564012">Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hoppe K,
|
||
Jurkat-Rott K,
|
||
Kranepuhl S,
|
||
Wearing S,
|
||
Heiderich S,
|
||
Merlak S,
|
||
Klingler W</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2021 Feb 9;11(1):3445.
|
||
doi: 10.1038/s41598-021-82024-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33564012" target="_blank">33564012</a><a href="/pmc/articles/PMC7873245" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28063098">Muscular body build and male sex are independently associated with malignant hyperthermia susceptibility.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Butala B,
|
||
Brandom B</span><br />
|
||
<span class="medgenPMjournal">Can J Anaesth</span>
|
||
2017 Apr;64(4):396-401.
|
||
Epub 2017 Jan 6
|
||
doi: 10.1007/s12630-017-0815-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28063098" target="_blank">28063098</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23842196">Malignant hyperthermia in Canada: characteristics of index anesthetics in 129 malignant hyperthermia susceptible probands.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riazi S,
|
||
Larach MG,
|
||
Hu C,
|
||
Wijeysundera D,
|
||
Massey C,
|
||
Kraeva N</span><br />
|
||
<span class="medgenPMjournal">Anesth Analg</span>
|
||
2014 Feb;118(2):381-387.
|
||
doi: 10.1213/ANE.0b013e3182937d8b.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23842196" target="_blank">23842196</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22538307">Exertional rhabdomyolysis: a clinical review with a focus on genetic influences.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Landau ME,
|
||
Kenney K,
|
||
Deuster P,
|
||
Campbell W</span><br />
|
||
<span class="medgenPMjournal">J Clin Neuromuscul Dis</span>
|
||
2012 Mar;13(3):122-36.
|
||
doi: 10.1097/CND.0b013e31822721ca.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22538307" target="_blank">22538307</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21376345">Cardiopulmonary bypass in malignant hyperthermia susceptible patients: a systematic review of published cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Metterlein T,
|
||
Zink W,
|
||
Kranke E,
|
||
Haneya A,
|
||
Graf B,
|
||
Kranke P</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
2011 Jun;141(6):1488-95.
|
||
Epub 2011 Mar 3
|
||
doi: 10.1016/j.jtcvs.2011.01.034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21376345" target="_blank">21376345</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malignant%20hyperthermia%2C%20susceptibility%20to%2C%206%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 (33)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38542460">An Association between OXPHOS-Related Gene Expression and Malignant Hyperthermia Susceptibility in Human Skeletal Muscle Biopsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chang L,
|
||
Motley R,
|
||
Daly CL,
|
||
Diggle CP,
|
||
Hopkins PM,
|
||
Shaw MA</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Mar 20;25(6)
|
||
doi: 10.3390/ijms25063489.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38542460" target="_blank">38542460</a><a href="/pmc/articles/PMC10970753" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35121058">Patient suspected susceptibility to malignant hyperthermia: impact of the disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodrigues G,
|
||
Andrade PV,
|
||
Santos JMD,
|
||
Castro I,
|
||
Amaral JLGD,
|
||
Silva HCAD</span><br />
|
||
<span class="medgenPMjournal">Braz J Anesthesiol</span>
|
||
2023 Mar-Apr;73(2):138-144.
|
||
Epub 2022 Feb 2
|
||
doi: 10.1016/j.bjane.2021.10.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35121058" target="_blank">35121058</a><a href="/pmc/articles/PMC10068541" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35285867">Referral Indications for Malignant Hyperthermia Susceptibility Diagnostics in Patients without Adverse Anesthetic Events in the Era of Next-generation Sequencing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van den Bersselaar LR,
|
||
Hellblom A,
|
||
Gashi M,
|
||
Kamsteeg EJ,
|
||
Voermans NC,
|
||
Jungbluth H,
|
||
de Puydt J,
|
||
Heytens L,
|
||
Riazi S,
|
||
Snoeck MMJ</span><br />
|
||
<span class="medgenPMjournal">Anesthesiology</span>
|
||
2022 Jun 1;136(6):940-953.
|
||
doi: 10.1097/ALN.0000000000004199.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35285867" target="_blank">35285867</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33259453">BMI and malignant hyperthermia pathogenic ryanodine receptor type 1 sequence variants in Switzerland: A retrospective cohort analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gonzalez A,
|
||
Girard T,
|
||
Dell-Kuster S,
|
||
Urwyler A,
|
||
Bandschapp O</span><br />
|
||
<span class="medgenPMjournal">Eur J Anaesthesiol</span>
|
||
2021 Jul 1;38(7):751-757.
|
||
doi: 10.1097/EJA.0000000000001399.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33259453" target="_blank">33259453</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19812484">Ambulatory surgery and malignant hyperthermia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brandom BW</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Anaesthesiol</span>
|
||
2009 Dec;22(6):744-7.
|
||
doi: 10.1097/ACO.0b013e328332a45b.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19812484" target="_blank">19812484</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malignant%20hyperthermia%2C%20susceptibility%20to%2C%206%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 (53)</a></div></div>
|
||
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||
|
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<div class="portlet mgSection" id="ID_104">
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<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>
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||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/21376345">Cardiopulmonary bypass in malignant hyperthermia susceptible patients: a systematic review of published cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Metterlein T,
|
||
Zink W,
|
||
Kranke E,
|
||
Haneya A,
|
||
Graf B,
|
||
Kranke P</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
2011 Jun;141(6):1488-95.
|
||
Epub 2011 Mar 3
|
||
doi: 10.1016/j.jtcvs.2011.01.034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21376345" target="_blank">21376345</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Malignant%20hyperthermia%2C%20susceptibility%20to%2C%206%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 (1)</a></div></div>
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1866076%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1866076%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d4ac4c2f30673f7b447c31">Malignant hyperthermia, susceptibility to, 6</a>
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<div class="ralinkpop offscreen_noflow">Malignant hyperthermia, susceptibility to, 6<div class="brieflinkpopdesc"></div></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d4ac402f30673f7b445969">Malignant Hyperthermia Susceptibility - GeneReviews®</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d4ac3fcde49f3df725819f">Table 7. [Malignant Hyperthermia Susceptibility: Gene-Specific Laboratory Techni...</a>
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