Malignant Hyperthermia Genetic Factors Study

Molecular Genetics of Malignant Hyperthermia Susceptibility

Protocol Description

This study is being done to develop a new lab technique to determine whether a person has malignant hyperthermia syndrome. Malignant hyperthermia is a rare life-threatening biochemical chain reaction triggered in some individuals by exposure to certain drugs used for general anesthesia. As it is believed that malignant hyperthermia is an inherited disorder, research into the genetic material that carries inheritance information from one generation to the next could lead to a better understanding of the syndrome and possibly to the development of a simple blood test to determine an individual’s risk of developing an episode during anesthesia.

Eligibility Criteria

The study is seeking participants of both genders who meet one of the following criteria: had a caffeine halothane contracture test result indicating malignant hyperthermia susceptibility; had a life-threatening episode of rhabdomyolysis and/or heat related illness; were diagnosed with central core disease or multimini core disease, or have a close relatives who had one of the above experiences. 
Boys: All ages
Girls: All ages


Participants will provide genetic material for analysis, either through a blood draw or a buccal smear from the inside of the cheek. Participants will be notified if genetic testing indicates a susceptibility to malignant hyperthermia.
Visits: 1
Duration: Not applicable

Status: Open for Enrollment

Source(s) of Support

Children’s Hospital of Pittsburgh of UPMC
Malignant Hyperthermia Association of the United States

Contact Information

To get started, please contact:
Barbara W. Brandom, MD