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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Malignant hyperthermia


Other Names for this Disease

  • Anesthesia related hyperthermia
  • Fulminating hyperpyrexia
  • Hyperpyrexia malignant
  • Malignant hyperpyrexia
  • MH
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Inheritance

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Is malignant hyperthermia inherited?

While malignant hyperthermia itself is not inherited, malignant hyperthermia susceptibility (MHS) is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the responsible gene is enough to make someone susceptible to having malignant hyperthermia.

Most people diagnosed with malignant hyperthermia or MHS have a parent with MHS; however, the parent may not have experienced an episode of malignant hyperthermia. Therefore, the family history may appear to be negative when other family members are susceptible. In some cases, a person with MHS is affected due to having a new (de novo) mutation that was not inherited from a parent. Parents of a person with an apparently new mutation may be evaluated by having contracture testing (a muscle biopsy to determine susceptibility) or molecular genetic testing, if the mutation in the affected person is known.

Each child of a person with MHS has a 50% (1 in 2) risk to inherit MHS.

The risks to siblings of an affected person depend on whether the affected person has a new mutation or inherited MHS from a parent. If a parent has MHS, each sibling as a 50% (1 in 2) risk to have MHS. When both parents appear unaffected based on evaluation, the risk to siblings of an affected person appears to be low.

The risk to other family members of an affected person also depend on whether an affected person's parent has the condition. If a parent also has MHS, other family members are at risk.[1]

People interested in learning about specific genetic risks to themselves or family members should speak with a genetics professional.
Last updated: 6/30/2014

References
  1. Henry Rosenberg, Nyamkhishig Sambuughin, Sheila Riazi, and Robert Dirksen. Malignant hyperthermia susceptibility. GeneReviews. January 31, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1146/. Accessed 6/30/2014.


Other Names for this Disease
  • Anesthesia related hyperthermia
  • Fulminating hyperpyrexia
  • Hyperpyrexia malignant
  • Malignant hyperpyrexia
  • MH
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.