Chromosome 17 Candidate Gene Analysis in a Population Referred Because of Suspected Susceptibility to Malignant Hyperthermia

  • Gary M. Vita
  • Antonel Olckers
  • Anne E. Jedlicka
  • Terry Heiman-Patterson
  • Alfred L. George
  • Jeffery E. Fletcher
  • Henry Rosenberg
  • Roy C. Levitt


Malignant hyperthermia susceptibility (MHS) is an autosomal dominant disorder of muscle metabolism that is triggered by potent inhalational anesthetics and depolarizing muscle relaxants. The signs and symptoms associated with an episode of malignant hyperthermia can include generalized muscle rigidity, masseter muscle spasm, rhabdomyolosis, acidosis, and hyperthermia. However, the clinical expression of malignant hyperthermia varies greatly from patient to patient. Moreover, the diagnosis is not easily established on the basis of clinical evidence alone, because the signs and symptoms of malignant hyperthermia are nonspecific. Thus, a clinical diagnosis must be sought by performing an in vitro contracture test (IVCT) to halothane or caffeine. Because the IVCT is costly and invasive, numerous investigators are searching for a noninvasive diagnostic test using molecular genetic approaches [1]. However, the development of noninvasive molecular genetic tests for MHS will depend on the identification of the genes responsible for this disorder.


Malignant Hyperthermia Malignant Hyperthermia Susceptibility SCN4A Gene Calcium Release Channel Central Core Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag Tokyo 1996

Authors and Affiliations

  • Gary M. Vita
    • 1
  • Antonel Olckers
    • 1
    • 2
  • Anne E. Jedlicka
    • 1
  • Terry Heiman-Patterson
    • 3
  • Alfred L. George
    • 4
  • Jeffery E. Fletcher
    • 5
  • Henry Rosenberg
    • 5
  • Roy C. Levitt
    • 1
  1. 1.Department of Anesthesiology and Critical Care MedicineThe Johns Hopkins Medical InstitutionsBaltimoreUSA
  2. 2.Department of Human Genetics and Developmental BiologyUniversity of PretoriaPretoriaSouth Africa
  3. 3.Thomas Jefferson UniversityPhiladelphiaUSA
  4. 4.Vanderbilt University Medical CenterNashvilleUSA
  5. 5.Department of AnesthesiologyHahnemann UniversityPhiladelphiaUSA

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