Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024591 (malignant hyperthermia)
 2,353 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In Japan, the rate of Ca-induced Ca release (CICR) using skinned fibers of skeletal muscle has been employed as a diagnostic test for malignant hyperthermia (MH) susceptibility, since most of the typical fulminant MH patients showed an enhancement of CICR rate. Recently the Ca releasing channel responsible for the CICR was reported to be mainly the ryanodine binding Ca protein which was identified as the causative site of MH muscle according to recent genetic studies. Among patients with enhanced CICR rate, one point mutation for Arg 2434 His was recognized in a family. Although this site is related to the central core disease (CCD), this pathological change could not be observed in this patient. This is the first report describing a gene mutation in a MH family identified in Japan.
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PMID:[Preliminary report: first identification of known mutation in the ryanodine receptor gene in a Japanese malignant hyperthermia pedigree]. 1079 26

A 16-year-old man with mitochondrial encephalomyopathy underwent biopsy and nephrectomy under general anesthesia. Mitochondrial encephalomyopathy is caused by mitochondrial dysfunction, and frequently accompanies elevation of lactic and pyruvic acid levels in the blood. It has been considered that problems of anesthesia for the patient with mitochondrial encephalomyopathy are the probability of hyperlactacidemia, the relevance to malignant hyperthermia, the possibility of myocardial disease and dysfunction of heart conduction system, respiratory depression due to muscle weakness, and so on. Therefore, to prevent hyperlactacidemia, we prepared the extracellular fluid solution including bicarbonic acid but no lactic and acetic acid, and infused the solution to the patient during anesthesia. By use of this solution, his lactic acid level was kept within the normal range during anesthesia and no metabolic acidosis occurred. His hemodynamics was stable and he showed normal response to vecuronium, recovering from anesthesia smoothly and postoperative course was uneventful.
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PMID:[Perioperative administration of bicarbonated solution to a patient with mitochondrial encephalomyopathy]. 1129 47

We report the case of a 31-year-old man with Graves' disease who manifested malignant hyperthermia during subtotal thyroidectomy. His past medical history and family history were unremarkable. Before surgery, his condition was well controlled with propylthiouracil, beta-adrenergic blocker and iodine. During the operation, anesthesia was induced by intravenous injection of vecuronium and thiopental, followed by suxamethonium for endotracheal intubation. Anesthesia was maintained with nitrous oxide and sevoflurane. One hour after induction of anesthesia, his end tidal carbon dioxide concentration (ET(CO2)) increased from 40 to 50 mmHg, heart rate increased from 90 to 100 beats per min and body temperature began to rise at a rate of 0.3 degrees C per 15 min. Suspecting thyroid storm, propranolol 0.4 mg and methylprednisolone 1,500 mg were administered, which, however, had little effect. Despite the lack of muscular rigidity, the diagnosis of malignant hyperthermia was made based on respiratory acidosis. Sevoflurane was discontinued and dantrolene was given by intravenous bolus. Soon after the treatment, ET(CO2), heart rate and body temperature started to fall to normal levels. His laboratory findings showed abnormally elevated serum creatine phosphokinase and myoglobin but normal thyroid hormone levels. Since dantrolene is efficacious in thyrotoxic crisis and malignant hyperthermia, an immediate intravenous administration of dantrolene should be considered when a hypermetabolic state occurs during anesthesia in surgical treatment for a patient with Graves' disease.
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PMID:Malignant hyperthermia in a patient with Graves' disease during subtotal thyroidectomy. 1145 72

A 26-year-old man had proximal weakness in the shoulder and the pelvic girdle since infancy. His sister, aged 16 years, presented a similar phenotype with more pronounced pelvic weakness. His muscle biopsy showed dense non-reducing inclusions which had a lamellar pattern at the ultrastructural level. These structures showed the typical features of fingerprint inclusions which were widely distributed in the fibers. Several central cores and other structural changes such as Z-line streaming were also observed. In view of the central cores, the male patient was investigated for malignant hyperthermia susceptibility. After exposure to halothane or caffeine, unusual intense contractures were observed on fiber preparations. The coexistence of central cores associated with fingerprint inclusions is suggestive of mixed congenital myopathy, which is in our case associated with malignant hyperthermia susceptibility.
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PMID:Congenital myopathy with central cores and fingerprint bodies in association with malignant hyperthermia susceptibility. 1152 82

We experienced two cases of malignant hyperthermia (MH) triggered by sevoflurane. Case 1 was a six-year-old girl, 15.8 kg, undergoing strabismus repair. She had flat back, elevated diaphragm and high arched palate. Anesthesia was induced and maintained with sevoflurane and nitrous oxide in oxygen. Her trachea was intubated without the use of muscle relaxant. Thirty minutes after the induction of anesthesia, ETco2 was over 60 mmHg despite hyperventilation. Muscle rigidity of legs and the rise in temperature were noted. MH was diagnosed and dantrolene i.v. was administered. Her maximum esophageal temperature was 40.2 degrees C. ETco2 and temperature returned to baseline values after dantrolene administration. Creatine phosphokinase (CK) level was 252 U.l-1 preoperatively, and 1690 U.l-1 next day. Case 2 was a year-and-9-month-old boy undergoing accessory ear resection. Anesthesia was induced with sevoflurane and nitrous oxide in oxygen. His trachea was intubated with an aid of vecuronium. Forty minutes after administration of sevoflurane his temperature rose to 38.6 degrees C with heart rate 191 bpm and Spo2 93%, and muscle rigidity of legs. MH was diagnosed and dantrolene was administered. His highest temperature was 39.3 degrees C and was reduced promptly after dantrolene. Postoperatively he was noted to have downslanting palpebral fissures, micrognathia, low set ears, and a single crease of the fifth finger and diagnosed as King syndrome which is reported to have association with MH. Both patients had no history of anesthesia nor abnormal family history. Both of them were rescued with dantrolene and recovered without sequelae.
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PMID:[Two pediatric cases of malignant hyperthermia caused by sevoflurane]. 1175 32

We gave propofol anesthesia to a patient with limb-girdle type of progressive muscular dystrophy. A 42 year-old male was to have skin graft for third degree burn. His respiratory function test showed %VC of 73.6% and %FEV1.0 of 107.6%. Arterial blood gas data were within normal ranges. He was anesthetized with propofol, fentanyl, vecuronium and nitrous oxide. During position change, Wenckebach type of second degree AV block occurred. AV block returned to sinus rhythm easily by injection of ephedrine hydrochloride and atropine sulfate, and reduction of propofol infusion rate. There were no perioperative respiratory complications and no clinical manifestations of malignant hyperthermia. Propofol anesthesia is suitable for limb-girdle type of progressive muscular dystrophy, because of very little possibility of triggering malignant hyperthermia, rapid awaking, minimal residual effects of the respiratory system, and easiness in controlling anesthetic depth.
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PMID:[Propofol anesthesia for a patient with progressive muscular dystrophy]. 1188 93

This is the summary of a special lecture presented by a malignant hyperthermia (MH) patient at 24th Japanese Symposium of Malignant Hyperthermia in Yamagata City (August 25, 2001). Thirteen years ago, he developed acute crisis of MH on general anesthesia for tonsillectomy and was diagnosed as MH-susceptible (MHS) with muscle biopsy test. His personal troublesome experiences related to MHS, i.e. local anesthesia, sports under hot environment etc., have presented him with many difficulties and problems to be solved in actual life after discharge from hospital. He hoped in the lecture for advances in noninvasive diagnosis for MHS and safe anesthetic method for MHS-patients. Important missions of anesthesiologists include consultation of the medical problems of MHS patients and supporting their safety in daily life.
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PMID:[Living with the diagnosis of malignant hyperthermia]. 1248 61

A 52-year-old man experienced progressive tonic-clonic activity soon after undergoing a myelogram accompanied by an intrathecal injection of Omnipaque. The activity progressed to seizures, hyperthermia, and acidosis. He was intubated, cooled, and treated symptomatically. His creatinine kinase rose to 60,000 IU/L. He eventually recovered completely. This distinct set of clinical signs renders the syndrome easily recognizable. Although this syndrome superficially resembles malignant hyperthermia, the pathophysiology is different. Survival depends on prompt recognition and rapid symptomatic treatment. Treatment with dantrolene sodium is not necessary.
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PMID:Ascending tonic-clonic syndrome secondary to intrathecal Omnipaque. 1526 25

We report a case in which a patient developed malignant hyperthermia (MH) during surgery to replant his hand. His condition was stabilised without the need to cease the procedure which continued for a further 6 h. MH and traumatic amputation of a hand are both rare emergencies. This case demonstrates that, MH may be controlled to allow a lengthy operation to be completed.
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PMID:Sewing hot and cold: successful replant of a hand in a patient who developed malignant hyperthermia intraoperatively. 1562 74

We experienced a case of fulminant malignant hyperthermia during laparoscopic surgery, which is the first reported case of this kind. A 69-year-old man, weighing 69 kg, underwent laparoscopic colectomy for cecal colon cancer. He had a remarkable familial history of malignant hyperthermia (MH). His uncle had MH from enflurane. In addition, 6 male relatives died at operation, exercise or drinking. However, he hid it intentionally because of social concern about inheriting abnormal genes and of inadequate explanation from medical personnel. Anesthesia was induced with fentanyl 100 microg, propofol 60 mg and vecuronium 9 mg intravenousely and maintained with nitrous oxide, oxygen and sevoflurane. About 120 min after the induction of anesthesia (50 min after pneumoperitoneum), PETCO2 increased to 54 mmHg. Thirty min later, body temperature (BT), heart rate (HR), PETCO2 and airway pressure (Paw) increased rapidly to 37.5 degrees C, 92 beats x min(-1), 62 mmHg and 3/33 cmH2O, respectively. The diagnosis of MH was made. The inspiratory gas was changed to 100% O2, and a bolus of 100 mg dantrolene was given. He had BT of 39.7 degrees C, HR of 152 beats x min(-1), PETCO2 of 123 mmHg, Paw of 3/40 cmH2O at the worst point. Rise in Paw and arrhythmia turned up frequently as complications of laparoscopic surgery, but they are very similar to the first symptoms of malignant hyperthermia. The decrease in BT with CO2 pneumoperitoneum can mask symptoms of MH. Awareness of this fact is important not to delay the diagnosis.
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PMID:[First report of malignant hyperthermia which occurred during laparoscopic surgery in Japan in a patient with typical family history]. 1644 Jul 11


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