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1.
Anaesth Intensive Care ; 45(6): 707-713, 2017 11.
Article in English | MEDLINE | ID: mdl-29137581

ABSTRACT

Malignant hyperthermia (MH) is a hypermetabolic disorder of skeletal muscle triggered almost exclusively by potent inhalational agents and suxamethonium. Signs of an MH reaction are non-specific and may be confused with the presentation of other problems such as sepsis and overheating of a patient. A high index of suspicion is needed to be aware of an early presentation of MH. Nine patients are presented who showed abnormal signs with an earlier anaesthetic where the possible diagnosis of an MH reaction was missed. These patients either presented later with an MH reaction, confirmed by DNA analysis and in some cases in vitro contracture testing, or were diagnosed by the identification of a causative mutation confirming MH susceptibility. The MH clinical grading scale is helpful in determining the likelihood that clinical indicators indicate a possible MH reaction. Masseter muscle rigidity is a known sign of MH, confirmed in this report by positive in vitro contracture testing and DNA analysis. Several uncommon muscle disorders have a high association with MH, and postoperative myalgia unrelated to suxamethonium can be a sign which is associated with MH. These reports emphasise the importance of a thorough family history (as the MH status was known by the family in four patients), a high index of suspicion for MH, and documentation of the possibility of MH susceptibility in the anaesthesia record.


Subject(s)
Malignant Hyperthermia/diagnosis , Adolescent , Adult , Child , DNA/analysis , Disease Susceptibility , Female , Humans , Male , Malignant Hyperthermia/etiology , Malignant Hyperthermia/genetics , Muscle Rigidity
2.
Anaesth Intensive Care ; 45(5): 611-618, 2017 09.
Article in English | MEDLINE | ID: mdl-28911291

ABSTRACT

Testing for malignant hyperthermia in New Zealand involves two tests-in vitro contracture testing of excised lateral quadriceps muscle and DNA analysis. In vitro contracture testing is regarded as the gold standard in malignant hyperthermia diagnosis but several publications have questioned the reliability of a normal result. Analysis of 479 anaesthetic records in 280 patients or their descendants throughout New Zealand who had tested negative for malignant hyperthermia, demonstrated there was no evidence of malignant hyperthermia episodes in this group who had been administered anaesthetic triggering agents. A wide range of anaesthetics were used over the study period. Analysis of each anaesthetic record was undertaken using the malignant hyperthermia grading scale which determines the likelihood that an anaesthetic event represents a malignant hyperthermia episode. Confirmation of the negative results was further supported by normal DNA analysis of patients in 48% of anaesthetics. There are advantages to using inhalational agents in certain situations and although demonstrating a zero risk of a malignant hyperthermia episode is not statistically possible, evidence in this large series suggests that the risk of an episode in these patients is extremely low and may be negligible. We suggest that anaesthetic triggering agents can be used safely in patients with normal in vitro contracture tests, and in their descendants.


Subject(s)
Anesthetics, Inhalation/adverse effects , Family Health , Malignant Hyperthermia/etiology , Adolescent , Adult , Aged , Aged, 80 and over , Anesthetics, Inhalation/administration & dosage , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Likelihood Functions , Male , Malignant Hyperthermia/diagnosis , Middle Aged , New Zealand , Reproducibility of Results , Young Adult
3.
Br J Anaesth ; 84(4): 500-4, 2000 Apr.
Article in English | MEDLINE | ID: mdl-10823104

ABSTRACT

Malignant hyperthermia (MH) has been reported as non-existent in children less than 1 yr old, although several unconfirmed reports have been published. A case report of MH in a 6-month-old child is presented, with confirmation of MH susceptibility by in vitro contracture testing of quadriceps muscle at 13 yr old. Genetic analysis revealed a novel RYR1 mutation that substitutes arginine 2452 for tryptophan in a region of the calcium channel mutated in several other MH pedigrees.


Subject(s)
Genetic Predisposition to Disease , Malignant Hyperthermia/genetics , Mutation , DNA, Complementary/genetics , Humans , Infant , Male , Malignant Hyperthermia/physiopathology , Muscle, Skeletal/physiopathology , Pedigree , Polymerase Chain Reaction
4.
Anaesth Intensive Care ; 25(4): 398-407, 1997 Aug.
Article in English | MEDLINE | ID: mdl-9288384

ABSTRACT

The management of eleven women susceptible to malignant hyperthermia during twenty deliveries is presented. These women were managed over a six-year period following guidelines that were established in 1990. Initial problems identified were the management of labour and caesarean section, the use of sympathomimetics and potential problems for the newborn, viz placental transfer of drugs and the possibility of a stress-induced malignant hyperthermia reaction in the newborn. There was little evidence that the stress of labour produced hypermetabolic responses in either mother or neonates and the use of sympathomimetics increased throughout the six-year period with no evidence of adverse effects. A caesarean section using general anaesthesia was not required but the management of this situation is described in both the protocol and discussion sections of this paper.


Subject(s)
Anesthesia, Obstetrical , Malignant Hyperthermia/prevention & control , Analgesia, Epidural , Analgesia, Obstetrical , Anesthesia, Conduction , Apgar Score , Cesarean Section , Delivery, Obstetric , Disease Susceptibility , Emergencies , Female , Humans , Infant, Newborn , Infant, Newborn, Diseases/prevention & control , Malignant Hyperthermia/diagnosis , Malignant Hyperthermia/genetics , Pregnancy
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