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The New England Journal of Medicine Aug 1983
Review
Topics: Animals; Dantrolene; Disease Models, Animal; Halothane; Humans; Malignant Hyperthermia; Muscles; Swine; Swine Diseases
PubMed: 6348539
DOI: 10.1056/NEJM198308183090706 -
Orphanet Journal of Rare Diseases Aug 2015Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as... (Review)
Review
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane, isoflurane and the depolarizing muscle relaxant succinylcholine, and rarely, in humans, to stressors such as vigorous exercise and heat. The incidence of MH reactions ranges from 1:10,000 to 1: 250,000 anesthetics. However, the prevalence of the genetic abnormalities may be as great as one in 400 individuals. MH affects humans, certain pig breeds, dogs and horses. The classic signs of MH include hyperthermia, tachycardia, tachypnea, increased carbon dioxide production, increased oxygen consumption, acidosis, hyperkalaemia, muscle rigidity, and rhabdomyolysis, all related to a hypermetabolic response. The syndrome is likely to be fatal if untreated. An increase in end-tidal carbon dioxide despite increased minute ventilation provides an early diagnostic clue. In humans the syndrome is inherited in an autosomal dominant pattern, while in pigs it is autosomal recessive. Uncontrolled rise of myoplasmic calcium, which activates biochemical processes related to muscle activation leads to the pathophysiologic changes. In most cases, the syndrome is caused by a defect in the ryanodine receptor. Over 400 variants have been identified in the RYR1 gene located on chromosome 19q13.1, and at least 34 are causal for MH. Less than 1 % of variants have been found in CACNA1S but not all of these are causal. Diagnostic testing involves the in vitro contracture response of biopsied muscle to halothane, caffeine, and in some centres ryanodine and 4-chloro-m-cresol. Elucidation of the genetic changes has led to the introduction of DNA testing for susceptibility to MH. Dantrolene sodium is a specific antagonist and should be available wherever general anesthesia is administered. Increased understanding of the clinical manifestation and pathophysiology of the syndrome, has lead to the mortality decreasing from 80 % thirty years ago to <5 % in 2006.
Topics: Genetic Counseling; Humans; Malignant Hyperthermia
PubMed: 26238698
DOI: 10.1186/s13023-015-0310-1 -
Advanced Emergency Nursing JournalMalignant hyperthermia (MH) is caused by a genetic disorder of the skeletal muscle that induces a hypermetabolic response when patients are exposed to a triggering agent... (Review)
Review
Malignant hyperthermia (MH) is caused by a genetic disorder of the skeletal muscle that induces a hypermetabolic response when patients are exposed to a triggering agent such as volatile inhaled anesthetics or depolarizing neuromuscular blockers. Symptoms of MH include increased carbon dioxide production, hyperthermia, muscle rigidity, tachypnea, tachycardia, acidosis, hyperkalemia, and rhabdomyolysis. Common scenarios for triggering agents are those used are during surgery and rapid sequence intubation. Hypermetabolic symptoms have a rapid onset; hence, prompt recognition and treatment are vital to prevent morbidity and mortality. The first-line treatment agent for an MH response is dantrolene. Further treatment includes managing complications related to a hypermetabolic response such as hyperkalemia and arrhythmias. This review is focused on the recognition and treatment considerations of MH in the emergency department to optimize therapy and improve patient morbidity and mortality.
Topics: Dantrolene; Diagnosis, Differential; Emergency Service, Hospital; Humans; Malignant Hyperthermia; Muscle Relaxants, Central; Risk Factors
PubMed: 33915557
DOI: 10.1097/TME.0000000000000344 -
Swiss Medical Weekly 2012Malignant hyperthermia (MH) is a subclinical myopathy, usually triggered by volatile anaesthetics and depolarising muscle relaxants. Clinical symptoms are variable, and... (Review)
Review
Malignant hyperthermia (MH) is a subclinical myopathy, usually triggered by volatile anaesthetics and depolarising muscle relaxants. Clinical symptoms are variable, and the condition is sometimes difficult to identify. Nevertheless, rapid recognition and specific as well as symptomatic treatment are crucial to avoid a lethal outcome. Molecular genetic investigations have confirmed the skeletal muscle type ryanodine receptor to be the major MH locus with more than 70% of MH families carrying a mutation in this gene. There is no screening method to test for MH, as current tests are invasive (open muscle biopsy) or restricted to MH families with known MH-associated mutations (molecular genetic testing). The prevalence of the MH trait is unknown, because the clinical penetrance after contact with triggering agents is very variable. More recently, MH mutations have been associated with rhabdomyolysis following statin therapy or with non-pharmacological triggering, such as exertional heat stroke.
Topics: Anesthesia, General; Creatine Kinase; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Malignant Hyperthermia; Rhabdomyolysis
PubMed: 22851008
DOI: 10.4414/smw.2012.13652 -
British Journal of Anaesthesia Jul 2023The molecular mechanisms of susceptibility to malignant hyperthermia are complex. The malignant hyperthermia susceptibility phenotype should be reserved for patients who...
The molecular mechanisms of susceptibility to malignant hyperthermia are complex. The malignant hyperthermia susceptibility phenotype should be reserved for patients who have a personal or family history consistent with malignant hyperthermia under anaesthesia and are subsequently demonstrated through diagnostic testing to be at risk.
Topics: Humans; Malignant Hyperthermia; Halothane; Caffeine; Anesthesia; Biopsy
PubMed: 37198032
DOI: 10.1016/j.bja.2023.04.014 -
Postgraduate Medical Journal Jan 1998Malignant hyperthermia is a rare autosomal dominant trait that predisposes affected individuals to great danger when exposed to certain anaesthetic triggering agents... (Review)
Review
Malignant hyperthermia is a rare autosomal dominant trait that predisposes affected individuals to great danger when exposed to certain anaesthetic triggering agents (such as potent volatile anaesthetics and succinylcholine). A sudden hypermetabolic reaction in skeletal muscle leading to hyperthermia and massive rhabdomyolysis can occur. The ultimate treatment is dantrolene sodium a nonspecific muscle relaxant. Certain precautions should be taken before anaesthesia of patients known to be susceptible to malignant hyperthermia. These include the prohibition of the use of triggering agents, monitoring of central body temperature and expired CO2, and immediate availability of dantrolene. In addition, careful cleansing of the anaesthesia machine of vapours of halogenated agents is recommended. If these measures are taken, the chances of an MH episode are greatly reduced. When malignant hyperthermia-does occur in the operating room, prompt recognition and treatment usually prevent a potentially fatal outcome. The most reliable test to establish susceptibility to malignant hyperthermia is currently the in vitro caffeine-halothane contracture test. It is hoped that in the future a genetic test will be available.
Topics: Anesthesia; Anesthetics, Inhalation; Caffeine; Central Nervous System Stimulants; Dantrolene; Halothane; Humans; Malignant Hyperthermia; Muscle Relaxants, Central
PubMed: 9538480
DOI: 10.1136/pgmj.74.867.11 -
Current Opinion in Neurology Oct 2018We will give an overview of neuromuscular disorders that can be linked with malignant hyperthermia or malignant hyperthermia-like reactions, and suggest an appropriate... (Review)
Review
PURPOSE OF REVIEW
We will give an overview of neuromuscular disorders that can be linked with malignant hyperthermia or malignant hyperthermia-like reactions, and suggest an appropriate approach to interpret the risks.
RECENT FINDINGS
An increasing number of neuromuscular phenotypes have been linked to malignant hyperthermia susceptibility (MHS). This is for an important part due to the highly variable phenotype associated with mutations in the ryanodine receptor 1 gene (RYR1), the gene most frequently associated with MHS. A RYR1-mutation or a clinical RYR1-phenotype does not automatically translate in MHS, but precautions should be taken nonetheless. In addition, several other genes and phenotypes are now considered to be associated with MHS. In contrast, several neuromuscular diseases that were long thought to be linked to MHS are now known to cause malignant hyperthermia-like reactions instead of malignant hyperthermia. This is highly relevant as not only the given preoperative advice differs, but also acute treatment.
SUMMARY
This review provides a summary of current evidence linking certain neuromuscular diseases to malignant hyperthermia or malignant hyperthermia-like reactions. We provide a guide for the clinician, to determine which patients are at risk of malignant hyperthermia or malignant hyperthermia-like reactions perioperatively, and to ensure adequate treatment in case such a severe acute complication occurs.
Topics: Genetic Predisposition to Disease; Humans; Malignant Hyperthermia; Neuromuscular Diseases; Ryanodine Receptor Calcium Release Channel
PubMed: 30015672
DOI: 10.1097/WCO.0000000000000592 -
The Journal of Pediatrics Jul 1986
Review
Topics: Action Potentials; Adult; Animals; Child; Counseling; Dantrolene; Humans; Malignant Hyperthermia; Muscle Contraction; Muscles; Preoperative Care; Swine
PubMed: 3522838
DOI: 10.1016/s0022-3476(86)80563-7 -
American Journal of Critical Care : An... Sep 1997Malignant hyperthermia is a pharmacogenetic disease of skeletal muscle characterized by hypermetabolism that occurs on exposure to a triggering agent or agents. The most... (Review)
Review
Malignant hyperthermia is a pharmacogenetic disease of skeletal muscle characterized by hypermetabolism that occurs on exposure to a triggering agent or agents. The most common agents are halogenated inhalational anesthetics and succinylcholine, a depolarizing muscle relaxant. Patients who experience malignant hyperthermia are generally transferred to the ICU for ongoing treatment and monitoring for secondary complications of the disorder. Critical care practitioners must be both knowledgeable and competent to prevent and treat perioperative episodes of malignant hyperthermia. A thorough preoperative interview should be done to determine risk factors and susceptible patients. This article provides critical care nurses with sound information on the pathophysiology of malignant hyperthermia, the ability to assess the disease properly and treat the patient both before and after the crisis, and the ability to provide support and teaching to patients and patients' families to prevent the recurrence of malignant hyperthermia.
Topics: Animals; Critical Care; Humans; Malignant Hyperthermia; Recurrence
PubMed: 9283674
DOI: No ID Found -
Plastic Surgical Nursing : Official... 2006
Review
Topics: Humans; Malignant Hyperthermia
PubMed: 17179887
DOI: 10.1097/00006527-200610000-00012