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Query: UMLS:C0024591 (malignant hyperthermia)
 2,353 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We investigated 56 families afflicted with malignant hyperpyrexia. One hundred and twenty-four individuals within these families had had an episode of malignant hyperthermia, of whom we saw seventy-two. Serum creatine phosphokinase (CPK) was statistically higher in affected individuals and in close relatives than in normal volunteers. The magnitude of the serum CPK elevations varied significantly between families. While in some families the serum CPK was clearly elevated in affected individuals, in other families the serum CPK was normal or only moderately or inconsistently raised. In these latter families serum CPK measurement was therfore of little or no value in identifying afflicted members. The incidence of musculoskeletal abnormalities was greater in affected individuals and in close relatives than in the general population. Thus, the concomitant individual belonging to a family known to be susceptible to malignant hyperthermia was a better indicator of the MH trait than was the presence of only one of these parameters. For reasons which we do not fully understand, MHS individuals were found to require fewer anaesthetics than normal persons. The incidence of MH crises within each family fell significantly following investigation, counselling, and issuance of Medic-Alert bracelets.
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PMID:Screening of malignant hyperthermia susceptible families by creatine phosphokinase measurement and other clinical investigations. 93 64

The activity and isoenzymes of creatine phosphokinase (CPK) in the serum of 2 women vulnerable to malignant hyperpyrexia were studied. Serum CPK activity was markedly elevated but, in contrast to a previous report, only skeletal-muscle type CPK activity was present.
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PMID:Isoenzymes of creatine phosphokinase in serum of families with malignant hyperpyrexia. 103 94

Serum creatine phosphokinase (CPK) activity was measured in 10 German Landrace pigs from 11 to 28 weeks of age. A pronounced age dependence of serum enzyme activity was observed, peak activity occurring at 19 weeks of age. At the end of the growth period, when the pigs were challenged with halothane to detect the malignant hyperthermia syndrome, 3 pigs were found to be susceptible. Singificant increases in the serum enzyme levels in the susceptible pigs were observed only at 11 and 28 weeks of age. Serum enzyme levels measured during the rapid phase of growth could not be used to predict the malignant hyperthermia syndrome. Elevated serum CPK levels were also observed in two litters of Large White and Landrace x Large White pigs, breeds known to be stress-resistant. No pigs in these litters were susceptible to halothane, even though CPK levels were similar to those of the German Landrace pigs. The results indicate that serum CPK levels can be used as evidence of predisposition to the malignant hyperthermia syndrome but cannot be relied on as a single ultimate test.
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PMID:Diagnostic value of serum creatine phosphokinase activity for the porcine malignant hyperthermia syndrome. 117 Jul 91

The relatives of a patient who died from malignant hyperpyrexia were examined clinically and biochemically. One fo the deceased's children, an identical twin, undergoing an anesthetic, was found to develop malignant hyperpyrexia on exposure to nitrous oxide. The creatine phosphokinase concentrations in this family were unhelpful as a method of identifying susceptible individuals.
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PMID:Malignant hyperpyrexia: Investigation of a family after a fatal case. 119 61

Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle. In genetically susceptible pigs, MH can be induced by volatile, halogenated anaesthetics such as halothane. Within a series of pharmacological investigations, a fulminant MH could be induced in 59 of 66 homozygous halothane-susceptible pigs by a challenge with 3% halothane for 15 minutes. The typical MH was characterized by sudden appearance of tachycardia, muscle rigidity with typical extension of the hindlimbs, increase of body temperature, acidosis-caused by rapid increase of CO2 and lactate production-, hyperkalaemia and increased activity of creatine kinase (CK) and aspartate transaminase (AST). In seven homozygous MH-susceptible pigs, this typical MH could not be induced by halothane. These animals responded with sudden appearance of bradyarrhythmia and decrease of arterial pressure. In these MH-atypical pigs (MHA) neither the typical extension of hindlimbs nor a hyperthermia occurred. Compared to a group of 6 MH-susceptible pigs with typical reactions to halothane (MHS), the biochemical alterations were significantly retarded in MHA-pigs. These atypical reactions to halothane could be the effect of decreased cardiac output. Concerning the atypical reactions, we observed a familiar predisposition in MH-susceptible pigs. Although atypical reactions were not found in a group of homozygous halothane-nonsusceptible pigs (MHN), a possible explanation for atypical reactions could be a MH-independent halothane-susceptibility of the myocardium+ in MHA-pigs. On the other side the data may indicate that a primary defect in both the skeletal muscle and also the myocardium is involved in MH. The different reactions to halothane in MH-susceptible pigs could point to a genetic heterogeneity.
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PMID:Atypical reactions to halothane in a subgroup of homozygous malignant hyperthermia(MH)-susceptible pigs: indication of a heterogenous genetic basis for the porcine syndrome. 142 16

Malignant hyperthermia (MH) is a rare clinical syndrome characterized by hypermetabolism and triggered by specific anesthetic agents. The mechanism of this abnormal reaction is due to uncontrolled calcium flux in the skeletal muscles resulting in a variable clinical syndrome of muscle rigidity, respiratory and metabolic acidosis, and elevation of temperature. The specific genetic defect underlying this condition has not been identified in humans, though in susceptible swine a mutation of the gene for the ryanodine receptor, a large protein which comprises the calcium channel in the sarcoplasmic reticulum, has been identified recently. Inheritance in humans appears to be autosomal dominant with variable penetrance. Patients with MH rarely have physical or laboratory signs of muscle disease. However, scattered case reports and investigations of individuals with known myopathies and other muscle related problems, such as acute rhabdomyolysis or idiopathic persistently elevated creatine kinase, suggest a possible association of MH with a variety of neuromuscular diseases and stress syndromes. This association is very strong in the case of central core disease (CCD) where it is supported by clinical and laboratory evidence, including the proximity of the CCD gene to the ryanodine receptor gene on chromosome 19. A variety of other diseases have been implicated and can be classified as possibly associated (King-Denborough syndrome, Duchenne muscular dystrophy) or unlikely to be associated (myotonia congenita, sudden infant death syndrome, limb girdle dystrophy, neuroleptic malignant syndrome, etc.).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Malignant hyperthermia and neuromuscular disease. 148 40

A 47-year-old woman with diabetic gastroparesis, on treatment with domperidone, a dopamine-receptor antagonist, was admitted to the hospital in coma, with high blood pressure and nonreactive pupils. She then developed high fever. Her condition progressively worsened for two days, when muscle rigidity was noted and creatine phosphokinase was greater than 2000 U/liter. A diagnosis of neuroleptic malignant syndrome was made, and the patient was given dantrolene with prompt and complete resolution of all signs and symptoms. Subsequent inquiry revealed a distant past history of positive muscle biopsy for malignant hyperthermia, obtained after the diagnosis had been made in a family member. This case suggests that domperidone may induce neuroleptic malignant syndrome and that patients with malignant hyperthermia are at increased risk for this complication.
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PMID:Neuroleptic malignant syndrome induced by domperidone. 158 2

The authors report on the course of a fulminant malignant hyperthermia (MH) associated with laminectomy in a 29-year-old man who had been healthy up to that time. Succinylcholine and isoflurane were considered to be the causative triggering agents. Progression could be prevented due to an early suspicion raised by end-expiratory CO2 measurement: treatment was instituted immediately (Dantrolene 2mg/kg body weight, oxygen hyperventilation, external cooling, etc.) Serum creatine kinase increased up to almost 50,000 U/l associated with massive myoglobinuria. Residue-free restitution was achieved within a few days. Decisive for an early detection of MH is the routine performance of end-expiratory CO2 measurement which is definitely superior to temperature control and significantly reduces the time that elapses before treatment is initiated.
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PMID:[The early diagnosis of malignant hyperthermia--the place of end-expiratory CO2 monitoring]. 178 8

This retrospective study was undertaken to examine the management and outcome of children who developed isolated masseter muscle spasm (MMS) after the administration of intravenous succinylcholine during anesthetic induction. The inhalation anesthetics used for induction were continued in all of these cases. The medical records of 68 patients (male/female ratio, 1.7:1), identified from approximately 42,000 anesthetics given during the period 1980-1989, were reviewed. Fifty-seven children (2.3-12 yr old) were diagnosed as having isolated MMS, i.e., MMS without spasm of other muscles; 11 experienced generalized rigidity in combination with MMS. Anesthetic and postoperative management of these two groups differed. The overall incidence of MMS was 0.3% of inhalation anesthetics during which succinylcholine was given. Intraoperative arrhythmias occurred in 33% of the patients who developed isolated MMS and more frequently in older children. Most children experienced some degree of hypercarbia and/or metabolic acidosis, but the significance of these abnormalities in the spontaneously ventilating, fasting child is unknown. Serum creatine kinase levels when measured 18-24 h postoperatively were elevated in all but one child (n = 45). There was no long-term morbidity and no mortality. We conclude that failure of the masseter muscles to relax after succinylcholine is not uncommon in children. Based on our experience, and accepting that MMS may be part of the clinical spectrum of malignant hyperthermia, we believe that anesthesia can be continued safely in cases of isolated MMS when careful monitoring accompanies diagnostic evaluation. This differs from the current practice of discontinuing the anesthetic or switching to a nontriggering anesthetic technique.
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PMID:Masseter muscle spasm in children: implications of continuing the triggering anesthetic. 186 39

This report describes a cardiac arrest that occurred in a 4-month-old infant during induction of anesthesia. During the administration of N2O/O2 and halothane via a face mask tachycardia was noted and rigor followed the application of succinylcholine for intubation. Shortly thereafter cardiac arrest occurred; 15 min later we found a profound metabolic acidosis as well as signs of rhabdomyolysis with a serum potassium level of 10.3 mmol/l and an increase in serum creatine kinase (CK). While performing cardiopulmonary resuscitation (CPR) and treating the acid-base imbalance and hyperkalemia, we administered--suspecting malignant hyperthermia (MH)--dantrolene. Approximately 60 min post-arrest we achieved stabilization of the vital signs. During the following hours the CK level rose to 99, 600 IU/l and myoglobinuria of 360,000 micrograms/l confirmed the extent of the rhabdomyolysis. The infant was discharged home without detectable sequelae after 2 1/2 weeks. Comparisons with corresponding case reports in the literature lead to the supposition that our patient suffered from a myopathy thus far undiagnosed. To what extent a MH episode may have contributed to the clinical picture cannot be determined at present. The spectrum of adverse reactions to volatile anesthetics and succinylcholine in patients with myopathic disorders is presented and discussed. As in other case reports, the dramatic course described here also demonstrates that in addition to CPR and treatment of the acid-base and electrolyte imbalances, administration of dantrolene should be considered at an early stage.
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PMID:[Cardiac arrest during anesthesia induction with halothane and succinylcholine in an infant. Massive hyperkalemia and rhabdomyolysis in suspected myopathy and/or malignant hyperthermia]. 195 45


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