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Anesthesiology Jan 2018This article reviews advancements in the genetics of malignant hyperthermia, new technologies and approaches for its diagnosis, and the existing limitations of genetic... (Review)
Review
This article reviews advancements in the genetics of malignant hyperthermia, new technologies and approaches for its diagnosis, and the existing limitations of genetic testing for malignant hyperthermia. It also reviews the various RYR1-related disorders and phenotypes, such as myopathies, exertional rhabdomyolysis, and bleeding disorders, and examines the connection between these disorders and malignant hyperthermia.
Topics: Anesthesia, General; Genomics; Humans; Malignant Hyperthermia; Rhabdomyolysis; Ryanodine Receptor Calcium Release Channel
PubMed: 28902675
DOI: 10.1097/ALN.0000000000001878 -
British Journal of Anaesthesia Mar 1981
Topics: Animals; Cholinesterases; Chromosome Mapping; Humans; Malignant Hyperthermia; Swine; Swine Diseases
PubMed: 7470355
DOI: 10.1093/bja/53.3.199 -
Anesthesiology Jul 1991
Comparative Study
Topics: Caffeine; Genetic Markers; Halothane; Humans; Malignant Hyperthermia; Molecular Biology
PubMed: 2064033
DOI: 10.1097/00000542-199107000-00001 -
Journal of the National Medical... Nov 1972
Topics: Adult; Aspirin; Chlorpromazine; Humans; Male; Malignant Hyperthermia; Penicillins
PubMed: 4639945
DOI: No ID Found -
British Journal of Anaesthesia Jul 2011Over the past 50 yr, many drugs have been implicated as triggers of malignant hyperthermia (MH), a potentially fatal pharmacogenetic disorder of skeletal muscle calcium... (Review)
Review
Over the past 50 yr, many drugs have been implicated as triggers of malignant hyperthermia (MH), a potentially fatal pharmacogenetic disorder of skeletal muscle calcium regulation. This review discusses the potent inhalation agents as the principal triggers and evidence that the modern agents, desflurane, sevoflurane, and isoflurane, can cause florid MH reactions in the same way as halothane but also are associated with reactions whose onset is delayed for several hours into anaesthesia. There is evidence that the triggering of MH by drugs is dose-dependent but the minimum dose that will trigger the condition is unknown. This has implications for the preparation of anaesthetic machines when used for known or suspected MH patients. While succinylcholine enhances the response of potent inhalation anaesthetics, its role as an inherent trigger of the condition is controversial. Non-depolarizing neuromuscular blocking drugs appear to protect against the development of MH and this may be by blocking excitation-coupled calcium entry-a recently described route of skeletal muscle calcium entry that may also explain the mechanism of the effect of succinylcholine in MH. Another mechanism for extracellular calcium influx, store-operated calcium entry, is activated in MH muscle and may explain how a triggered reaction is sustained. Finally, reports of drugs that have been implicated as additional triggers of MH over the past 10 yr are discussed.
Topics: Anesthetics, Inhalation; Animals; Dose-Response Relationship, Drug; Humans; Malignant Hyperthermia; Neuromuscular Depolarizing Agents; Neuromuscular Nondepolarizing Agents; Succinylcholine
PubMed: 21624965
DOI: 10.1093/bja/aer132 -
Plastic Surgical Nursing : Official... 2006
Review
Topics: Humans; Malignant Hyperthermia
PubMed: 17179887
DOI: 10.1097/00006527-200610000-00012 -
Journal of Athletic Training Apr 2017Recent case reports on malignant hyperthermia (MH)-like syndrome in physically active populations indicate potential associations among MH, exertional heat stroke...
CONTEXT
Recent case reports on malignant hyperthermia (MH)-like syndrome in physically active populations indicate potential associations among MH, exertional heat stroke (EHS), and exertional rhabdomyolysis (ER). However, an expert consensus for clinicians working with these populations is lacking.
OBJECTIVE
To provide current expert consensus on the (1) definition of MH; (2) history, etiology, and pathophysiology of MH; (3) epidemiology of MH; (4) association of MH with EHS and ER; (5) identification of an MH-like syndrome; (6) recommendations for acute management of an MH-like syndrome; (7) special considerations for physically active populations; and (8) future directions for research.
SETTING
An interassociation task force was formed by experts in athletic training, exercise science, anesthesiology, and emergency medicine. The "Round Table on Malignant Hyperthermia in Physically Active Populations" was convened at the University of Connecticut, Storrs, September 17-18, 2015.
CONCLUSIONS
Clinicians should consider an MH-like syndrome when a diagnosis of EHS or ER cannot be fully explained by clinical signs and symptoms presented by a patient or when recurrent episodes of EHS or ER (or both) are unexplained. Further research is required to elucidate the genetic and pathophysiological links among MH, EHS, and ER.
Topics: Consensus; Diagnosis, Differential; Exercise; Heat Stroke; Humans; Malignant Hyperthermia; Recurrence; Rhabdomyolysis; Syndrome
PubMed: 28430550
DOI: 10.4085/1062-6050-52.2.06 -
Anesthesiology Jan 2008
Topics: Anesthesia, General; History, 20th Century; Humans; Malignant Hyperthermia
PubMed: 18156894
DOI: 10.1097/01.anes.0000296107.23210.dd -
Anaesthesiology Intensive Therapy 2022Malignant hyperthermia (MH) is a life-threatening syndrome caused by sudden skeletal muscle hypermetabolism in response to inhalation anaesthetics and depolarising...
INTRODUCTION
Malignant hyperthermia (MH) is a life-threatening syndrome caused by sudden skeletal muscle hypermetabolism in response to inhalation anaesthetics and depolarising relaxants. The estimated incidence of MH is between 1 : 10,000 and 1 : 250,000 anaesthetic procedures. In Poland the incidence of MH is unknown. Dantrolene is imported as a life-saving drug and temporally authorised for sale. The aim of the study is to assess the incidence of MH and access to dantrolene in the Mazovia Province.
METHODS
Anonymous questionnaires were sent to anaesthesia departments in the Mazovia Province after prior contact by phone and e-mail. The survey was approved by the local ethical review board.
RESULTS
Completed surveys were received from 60 respondents which represents 72% of anaesthesiology departments in Mazovia. In the last 5 years there have been 4 episodes of MH in the Mazovia Province. Three patients survived the MH crisis. In a centre that did not have access to dantrolene, the patient died. Dantrolene is found only in 11 (18.3%) anaesthesiology departments in Mazovia. Only 6 (10%) hospitals are able to administer dantrolene within 5 minutes of suspecting MH crisis, while 5 centres may receive it after a few days. Only 38% of units have an algorithm for dealing with MH crisis in the operating theatres.
CONCLUSIONS
MH is rare, but if untreated, it can be fatal. Therefore prompt diagnosis and treatment are crucial to avoid fatal outcome. Every centre using inhalational anaesthetics and/or succinylcholine should have dantrolene. To ensure the safety of our patients, we must be better prepared.
Topics: Anesthetics, Inhalation; Dantrolene; Humans; Malignant Hyperthermia; Operating Rooms; Succinylcholine
PubMed: 35579281
DOI: 10.5114/ait.2022.115348 -
British Journal of Anaesthesia Oct 2015It is 30 yr since the British Journal of Anaesthesia published the first consensus protocol for the laboratory diagnosis of malignant hyperthermia susceptibility from...
It is 30 yr since the British Journal of Anaesthesia published the first consensus protocol for the laboratory diagnosis of malignant hyperthermia susceptibility from the European Malignant Hyperthermia Group. This has subsequently been used in more than 10 000 individuals worldwide to inform use of anaesthetic drugs in these patients with increased risk of developing malignant hyperthermia during general anaesthesia, representing an early and successful example of stratified medicine. In 2001, our group also published a guideline for the use of DNA-based screening of malignant hyperthermia susceptibility. We now present an updated and complete guideline for the diagnostic pathway for patients potentially at increased risk of developing malignant hyperthermia. We introduce the new guideline with a narrative commentary that describes its development, the changes to previously published protocols and guidelines, and new sections, including recommendations for patient referral criteria and clinical interpretation of laboratory findings.
Topics: Europe; Genetic Predisposition to Disease; Humans; Malignant Hyperthermia; Referral and Consultation
PubMed: 26188342
DOI: 10.1093/bja/aev225