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)

Malignant hyperthermia is a disease resulting from defective cellular membranes, usually presenting as drug-induced pyrexic crises. We describe four patients with life threatening ventricular arrhythmias or chest pain in the absence of pyrexic crises. Three presented with life threatening arrhythmias and the fourth with severe atypical chest pain. Two patients had a family history of multiple sudden deaths. Resting CKs were elevated in three patients while CK-MB was elevated in one. Resting ECGs were abnormal in three. Three patients had recurrent ventricular tachycardia, two had recurrent ventricular fibrillation and multiple cardiac arrests. Cardiac catheterization showed abnormal left ventricular wall motion in two and minimal mitral valve prolapse in one while all had normal coronary arteries. Thallium-201 myocardial imaging demonstrated large perfusion defects in the patient with electrocardiographic Q waves and normal coronary arteries. Myocardial involvement has been demonstrated by clinical, electrocardiographic, hemodynamic, angiographic and myocardial imaging abnormalities. Malignant arrhythmias occurred in these patients in the absence of pyrexic crises or drug admininstration. Abnormal calcium release in the myocardium, as documented in skeletal muscle membranes, may be a unifying concept for the various manifestations described.
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PMID:Cardiac manifestations of malignant hyperthermia susceptibility. 69 60

Findings in 13 patients with central core disease are reported and compared with 62 patients from the literature. Patients with central core disease show wide variation in the clinical spectrum of muscle involvement. Some will have no symptoms and be completely normal on examination, many will show mild to moderate weakness, and a small number will be severely affected. Muscle atrophy is a frequent finding, but progression of muscle weakness is rare and occurs only slowly. Musculoskeletal deformities, including kyphoscoliosis, congenital hip dislocation, feet deformities, and joint contractures, are often seen but generally do not alter the natural history of the disease. Surgical treatment may be required for some of these abnormalities. No relationship appears to exist between the degree of muscle weakness and the presence or type of musculoskeletal deformities. Cardiac abnormalities have rarely been reported in association with central core disease. Mitral valve prolapse was noted in 3 of our patients and 2 others had cardiac arrhythmias. Central core disease and susceptibility to malignant hyperthermia was present in all 11 patients we studied (2 patients with central core disease did not have studies for malignant hyperthermia). These 11 patients came from 4 families. All patients with central core disease should be considered at risk for malignant hyperthermia unless in-vitro contracture tests show that the particular patient is free of the trait.
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PMID:Central core disease. Clinical features in 13 patients. 362 47