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)

We report a patient with multicore myopathy, a rare myopathy not previously reported in the anaesthetic literature. It is characterised by a myopathy of proximal muscles which tends to follow a benign course but may be associated with a severe form of cardiomyopathy. The myopathy is related to central core disease so these patients should be considered to have a potential for developing malignant hyperthermia. Complicating this case was an associated anhidrotic type of ectodermal dysplasia resulting in the absence of sweating, febrile episodes, recurrent pulmonary infections, conical and missing teeth, scaly skin and fine, sparse hair. The patient had a scoliosis repair which was uneventful but died three weeks later following a major pulmonary aspiration while on the ward. The cause of the aspiration is thought to have been unsuspected laryngeal incompetence associated with ectodermal dysplasia, the myopathy involving his bulbar muscles and analgesic medication.
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PMID:Multicore myopathy in a patient with anhidrotic ectodermal dysplasia. 145 Dec 26

Neuromuscular diseases raise a lot of anesthesia related problems. The first is the hitherto unknown disease discovered by an unexpected adverse reaction to anesthetics or/and muscle relaxants up to a life-threatening incident. A second problem is the probable, suspected or proven disposition to malignant hyperthermia in patients with other neuromuscular diseases. Furthermore, severe rhabdomyolysis can be induced in myopathic muscle by the application of succinylcholine alone or in combination with inhalational anesthetics resulting in hyperkalemia, myoglobinuria and CK-elevation, sometimes followed by cardiac arrest. Cardiomyopathy is a common feature in many neuromuscular diseases. All cardiodepressant agents must be avoided. Specific problems with muscle relaxants arise in myasthenia gravis and in the myotonias. In the later stages of severe neuromuscular diseases the main problem concerning anesthesia is respiratory failure. The individual risk of every patient has to be evaluated before anesthesia. Recommendations for the anesthetic management are given.
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PMID:Anesthesia in neuromuscular diseases. 219 54

A variety of drugs used in clinical practice may cause myopathy or interfere with neuromuscular transmission. The precise incidence of such disorders is not known, but it is almost certainly higher than is generally suspected. An important aspect of drug-induced muscular disorders is their reversibility if the offending agent is withdrawn, whereas failure to do so may lead to unnecessary morbidity. The study of drug effects on muscle provides a means of investigating the pathological reactions of muscle, and of producing experimental models of naturally occurring myopathies. Drug-induced myopathies may result from a direct toxic effect, which may be local when the drug is injected into a muscle or more diffuse when the drug is taken systemically, or may be secondary to electrolyte disturbances, muscle compression, ischaemia, neural activation or to the development of an immunological reaction directed against muscle. Repeated injections of antibiotics or drugs of addiction may lead to severe muscle fibrosis and contractures. A variety of drugs may cause an acute or subacute painful necrotising myopathy which may be associated with myoglobinuria, at times leading to acute renal failure. Clofibrate and epsilon aminocaproic acid are the drugs most frequently implicated, but a similar syndrome may occur in alcoholics and heroin addicts. Certain hypocholesterolaemic agents may induce myotonia by altering the sterol composition of the muscle cell membrane, while certain drugs including beta-adrenergic blockers and agonists, succinylcholine and diuretics may exacerbate or unmask pre-existing myotonia. In the syndrome of malignant hyperpyrexia, halothane, succinylcholine and various other agents may induce a potentially fatal state of muscular rigidity and hypermetabolism in susceptible individuals as a result of a defect in the calcium transport function of the sarcoplasmic reticulum and possibly of other cellular membranes. In corticosteroid myopathy, which is the most common form of drug-induced myopathy, there is selective atrophy of type 2 muscle fibres and the primary metabolic effect is an inhibition of RNA and protein synthesis, although protein degradation is also increased. Chloroquine and a number of related drugs with amphiphilic cationic properties may induce lysosomal storage myopathy, which may be associated with cardiomyopathy and with a more widespread form of lipidosis.
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PMID:Adverse effects of drugs on muscle. 612 17

Cardiomyopathy develops in some individuals who have a susceptibility to malignant hyperthermia. We studied right ventricular endomyocardial biopsy specimens from nine patients defined as having this disorder because of positive caffeine contracture tests on skeletal muscle biopsy specimens. Three patients had clinical evidence of cardiomyopathy and six did not. Light microscopy showed cytoplasmic contraction bands, perinuclear clearing, and a mild to moderate variation in myocyte and nuclear size. Ultrastructurally cytoplasmic contraction bands were associated with cardiac villi, myofiberlysis, and myofibrillolysis. These changes and occasional breaks in the sarcolemma were regarded as artefacts of the biopsy procedure. Megamitochondriosis with accompanying degenerative changes in the mitochondria were also seen and probably indicate increased cell metabolism; vacuolation of the cytoplasm was regarded as an "aging" phenomenon. Thus, the biopsy specimens were abnormal, but the changes were artefactual or nonspecific and were not unique to this group of patients. Biopsy did not provide a morphological explanation for abnormal cardiac function.
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PMID:Malignant hyperthermia susceptibility. A light and electron microscopic study of endomyocardial biopsy specimens from nine patients. 740 95

Transient elevations of intracellular Ca2+ play a signalling role in such complex cellular functions as contraction, secretion, fertilization, proliferation, metabolism, heartbeat and memory. However, prolonged elevation of Ca2+ above about 10 microM is deleterious to a cell and can activate apoptosis. In muscle, there is a narrow window of Ca2+ dysregulation in which abnormalities in Ca2+ regulatory proteins can lead to disease, rather than apoptosis. Key proteins in the regulation of muscle Ca2+ are the voltage-dependent, dihydropyridine-sensitive, L-type Ca2+ channels located in the transverse tubule and Ca2+ release channels in the junctional terminal cisternae of the sarcoplasmic reticulum. Abnormalities in these proteins play a key role in malignant hyperthermia (MH), a toxic response to anesthetics, and in central core disease (CCD), a muscle myopathy. Sarco(endo)plasmic reticulum Ca2+ ATPases (SERCAs) return sarcoplasmic Ca2+ to the lumen of the sarcoplasmic reticulum. Loss of SERCA1a Ca2+ pump function is one cause of exercise-induced impairment of the relaxation of skeletal muscle, in Brody disease. Phospholamban expressed in cardiac muscle and sarcolipin expressed in skeletal muscle regulate SERCA activity. Studies with knockout and transgenic mice show that gain of inhibitory function of phospholamban alters cardiac contractility and could be a causal feature in some cardiomyopathies. Calsequestrin, calreticulin, and a series of other acidic, lumenal, Ca2+ binding proteins provide a buffer for Ca2+ stored in the sarcoplasmic reticulum. Overexpression of cardiac calsequestrin leads to cardiomyopathy and ablation of calreticulin alters cardiac development.
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PMID:Ca2+ signalling and muscle disease. 1095 Nov 87

Arrhythmogenic right ventricular dysplasia type 2 (ARVD2, OMIM 600996) is an autosomal dominant cardiomyopathy, characterized by partial degeneration of the myocardium of the right ventricle, electrical instability and sudden death. The disease locus was mapped to chromosome 1q42--q43. We report here on the physical mapping of the critical ARVD2 region, exclusion of two candidate genes (actinin 2 and nidogen), elucidation of the genomic structure of the cardiac ryanodine receptor gene (RYR2) and identification of RYR2 mutations in four independent families. In myocardial cells, the RyR2 protein, activated by Ca(2+), induces the release of calcium from the sarcoplasmic reticulum into the cytosol. RyR2 is the cardiac counterpart of RyR1, the skeletal muscle ryanodine receptor, involved in malignant hyperthermia (MH) susceptibility and in central core disease (CCD). The RyR2 mutations detected in the present study occurred in two highly conserved regions, strictly corresponding to those where mutations causing MH or CCD are clustered in the RYR1 gene. The detection of RyR2 mutations causing ARVD2, reported in this paper, opens the way to pre-symptomatic detection of carriers of the disease in childhood, thus enabling early monitoring and treatment.
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PMID:Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). 1115 36

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

There are several problems in anesthetic management for patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS); susceptibility to malignant hyperthermia, metabolic disorders such as lactic acidosis and diabetes, and dysfunction of vital organs such as cardiomyopathy. Here we report an anesthetic management of emergency laparotomy in a 58-year-old woman with MELAS and systemic inflammatory response syndrome (SIRS). Pre-operative examinations revealed lactic acidosis, hyperglycemia, moderate cardiac depression, and slightly decreased renal function. We chose total intravenous anesthesia to avoid risks of malignant hyperthermia. Anesthesia was induced by rapid-sequence fashion and maintained using midazolam, propofol, ketamine, fentanyl and vecuronium. Based on arterial blood gas analyses, we adjusted ventilator settings, restored blood volume using acetated-Ringer's solution and alubumin preparation with transfusion, and administered sodium bicarbonate and catecholamines, to keep adequate oxygen demand/supply balance and improve acid-base balance. We applied a patient warming system to avoid the progression of hypothermia. After the surgery, the patient was transferred to the intensive care unit, and underwent the endotoxin absorption therapy as well as antibiotics therapy for the treatment of SIRS. The post-operative course was almost uneventful. We consider that careful anesthetic management was essential for the uneventful peri-operative course of this patient.
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PMID:[Anesthetic management of emergency total gastrectomy in a patient with mitochondrial encephalomyopathy: a case of gastric perforation accompanied by systemic inflammatory response syndrome]. 2056 Mar 85

Myofibrillar myopathy (MFM) is a relatively newly recognized genetic disease that leads to progressive muscle deterioration. MFM has a varied phenotypic presentation and impacts cardiac, skeletal, and smooth muscles. Affected individuals are at increased risk of respiratory failure, significant cardiac conduction abnormalities, cardiomyopathy, and sudden cardiac death. In addition, significant skeletal muscle involvement is common, which may lead to contractures, respiratory insufficiency, and airway compromise as the disease progresses. This study is the first report of anesthetic management of a patient with MFM. We report multiple anesthetic encounters of a child with genetically confirmed BAG3-myopathy, a subtype of MFM with severe childhood disease onset. A review of the anesthetic implications of the disease is provided, with specific exploration of possible susceptibility to malignant hyperthermia, rhabdomyolysis, and sensitivity to other anesthetic agents.
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PMID:Anesthetic considerations in myofibrillar myopathy. 2521 31