scholarly journals A Minimal-Invasive Metabolic Test Detects Malignant Hyperthermia Susceptibility in a Patient after Sevoflurane-Induced Metabolic Crisis

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Frank Schuster ◽  
Stephan Johannsen ◽  
Norbert Roewer
Keyword(s):  
Malignant Hyperthermia ◽  
Intramuscular Injection ◽  
Diagnostic Procedures ◽  
Minimal Invasive ◽  
Malignant Hyperthermia Susceptibility ◽  
Inhalation Anesthetics ◽  
Life Threatening ◽  
Life Threatening Complication ◽  
Metabolic Test

Malignant hyperthermia is a rare but life-threatening complication of general anesthesia in predisposed patients usually triggered by potent inhalation anesthetics and/or the depolarizing muscle relaxant succinylcholine. The authors present a case of delayed sevoflurane-induced malignant hyperthermia in a 21-year-old male patient that was sufficiently treated by discontinuation of trigger agent application and dantrolene infusion. After surviving an MH episode diagnostic procedures are indicated to increase patient safety. In the presented case, the use of a novel minimal-invasive metabolic test with intramuscular injection of halothane and caffeine successfully confirmed MH susceptibility and hence might be an alternative for invasive in vitro contracture testing in selected cases.

In Vitro Diagnosis of Malignant Hyperthermia Susceptibility with Ryanodine-Induced Contractures in Human Skeletal Muscles

1996 ◽  
Vol 82 (6) ◽  
pp. 1230-1236 ◽  
Author(s):  
Frank Wappler ◽  
Norbert Roewer ◽  
Andreas Kochling ◽  
Jens Scholz ◽  
Markus Steinfath ◽  
...  
Keyword(s):  
Malignant Hyperthermia ◽  
Skeletal Muscles ◽  
Malignant Hyperthermia Susceptibility ◽  
Human Skeletal Muscles ◽  
In Vitro Diagnosis

Suspected Malignant Hyperthermia Reactions in New Zealand

2002 ◽  
Vol 30 (4) ◽  
pp. 453-461 ◽  
Author(s):  
A. N. Pollock ◽  
E. E. Langton ◽  
K. Couchman ◽  
K. M. Stowell ◽  
M. Waddington
Keyword(s):  
New Zealand ◽  
Malignant Hyperthermia ◽  
Dna Analysis ◽  
Anaesthetic Agent ◽  
Clinical Signs ◽  
Malignant Hyperthermia Susceptibility ◽  
In Vitro Contracture Test ◽  
Grading Scale ◽  
Clinical Grading

Early clinical signs, triggering agents, time to onset of reaction, mortality and methods of treatment were identified in 123 suspected malignant hyperthermia reactions. In vitro contracture test results were compared with clinical signs and the Malignant Hyperthermia Clinical Grading Scale. Increased end-tidal carbon dioxide is the earliest sign when not preceded by masseter spasm. Earlier diagnosis reduces the incidence of rigidity and severe metabolic acidosis. The combination of suxamethonium and a potent volatile anaesthetic agent triggers an earlier reaction compared with a volatile agent alone. There has been zero mortality since 1981, essentially due to a combination of advanced monitoring capability, increased anaesthetist awareness of malignant hyperthermia, and dantrolene availability. DNA analysis has identified nine New Zealand families with ryanodine receptor gene mutations. A positive DNA test indicates malignant hyperthermia susceptibility with “causative” mutations but discordance requires that negative DNA tests are confirmed with in vitro contracture test. This test also demonstrated the shortcomings of the Malignant Hyperthermia Clinical Grading Scale.

Sevoflurane is less sensitive than halothane for in vitro detection of malignant hyperthermia susceptibility

2013 ◽  
Vol 57 (9) ◽  
pp. 1161-1166 ◽  
Author(s):  
S. JOHANNSEN ◽  
W. KLINGLER ◽  
D. SCHNEIDERBANGER ◽  
S. HEIDERICH ◽  
N. ROEWER ◽  
...  
Keyword(s):  
Malignant Hyperthermia ◽  
Malignant Hyperthermia Susceptibility

scholarly journals Muscle Biopsy and In Vitro  Contracture Test in Subjects with Idiopathic HyperCKemia

2008 ◽  
Vol 109 (4) ◽  
pp. 625-628 ◽  
Author(s):  
Alessandro Malandrini ◽  
Alfredo Orrico ◽  
Carmen Gaudiano ◽  
Simona Gambelli ◽  
Lucia Galli ◽  
...  
Keyword(s):  
Malignant Hyperthermia ◽  
Muscle Biopsy ◽  
Malignant Hyperthermia Susceptibility ◽  
Manual Muscle Testing ◽  
In Vitro Contracture Test ◽  
Muscle Testing ◽  
Malignant Hyperthermia Susceptible ◽  
Fiber Size ◽  
Precise Diagnosis

Background Persistent high creatine kinase (CK) levels may reflect underlying subclinical myopathies. In most cases, pathogenesis is unknown and clinical management is unclear. Though clinically asymptomatic, these subjects are potentially susceptible to malignant hyperthermia. Methods The authors analyzed 37 subjects with persistent elevation of CK without significant weakness or other neurologic symptoms. Neurologic examination was performed according to manual muscle testing. Muscle biopsy and the in vitro contracture test were performed in all subjects. Results Twenty-three subjects (51.1%) were completely asymptomatic. The others had minor symptoms such as occasional cramps (11 subjects, 24.4%), fatigue (5 subjects, 11.1%), a combination of cramps and fatigue (5 subjects, 11.1%), and muscle pain (1 case, 2.2%). Muscle biopsy enabled precise diagnosis in 3 cases and was normal in 3 cases. The more frequent changes were variation in fiber size (31.1%), a combination of nuclear internalization and variation in fiber size (26.6%), nuclear internalization (6.6%), minor mitochondrial changes (4.4%), and neurogenic atrophy (4.4%). Immunocytochemical analysis was normal in all patients. In vitro contracture testing detected one malignant hyperthermia-susceptible and one malignant hyperthermia-equivocal subject. Conclusions The evidence of malignant hyperthermia susceptibility by in vitro contracture test seems to be relatively infrequent among subjects with idiopathic hyperCKemia, but the incidence of true malignant hyperthermia in idiopathic hyperCKemia is unknown. Muscle biopsy should be considered a useful, though not very sensitive, diagnostic tool in idiopathic hyperCKemia, because it enables potentially treatable disorders, such as inflammatory myopathies, to be discovered. No uniform morphologic finding typical of idiopathic hyperCKemia or malignant hyperthermia susceptibility was identified by muscle biopsy.

scholarly journals Using Exome Data to Identify Malignant Hyperthermia Susceptibility Mutations

2013 ◽  
Vol 119 (5) ◽  
pp. 1043-1053 ◽  
Author(s):  
Stephen G. Gonsalves ◽  
David Ng ◽  
Jennifer J. Johnston ◽  
Jamie K. Teer ◽  
Peter D. Stenson ◽  
...  
Keyword(s):  
Malignant Hyperthermia ◽  
Exome Sequencing ◽  
Malignant Hyperthermia Susceptibility ◽  
Missense Mutations ◽  
Asymptomatic Patients ◽  
Frameshift Deletion ◽  
Patients At Risk ◽  
Life Threatening ◽  
Medical Histories ◽  
Mutation Databases

Abstract Background: Malignant hyperthermia susceptibility (MHS) is a life-threatening, inherited disorder of muscle calcium metabolism, triggered by anesthetics and depolarizing muscle relaxants. An unselected cohort was screened for MHS mutations using exome sequencing. The aim of this study was to pilot a strategy for the RYR1 and CACNA1S genes. Methods: Exome sequencing was performed on 870 volunteers not ascertained for MHS. Variants in RYR1 and CACNA1S were annotated using an algorithm that filtered results based on mutation type, frequency, and information in mutation databases. Variants were scored on a six-point pathogenicity scale. Medical histories and pedigrees were reviewed for malignant hyperthermia and related disorders. Results: The authors identified 70 RYR1 and 53 CACNA1S variants among 870 exomes. Sixty-three RYR1 and 41 CACNA1S variants passed the quality and frequency metrics but the authors excluded synonymous variants. In RYR1, the authors identified 65 missense mutations, one nonsense, two that affected splicing, and one non–frameshift indel. In CACNA1S, 48 missense, one frameshift deletion, one splicing, and one non–frameshift indel were identified. RYR1 variants predicted to be pathogenic for MHS were found in three participants without medical or family histories of MHS. Numerous variants, previously described as pathogenic in mutation databases, were reclassified by the authors as being of unknown pathogenicity. Conclusions: Exome sequencing can identify asymptomatic patients at risk for MHS, although the interpretation of exome variants can be challenging. The use of exome sequencing in unselected cohorts is an important tool to understand the prevalence and penetrance of MHS, a critical challenge for the field.

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