Concurrence of malignant hyperthermia and congenital abnormalities
Related Experiment Videos
1Department of Physiology, Witwatersrand University Medical School, Johannesburg, South Africa.
Insights
Malignant hyperthermia (MH) susceptibility was investigated in two children and their families due to a history of unexplained reactions to anesthesia. MH was confirmed in the patients and one parent, suggesting a genetic link and potential role in congenital abnormalities.
Area of Science:
- Anesthesiology
- Medical Genetics
- Pediatric Surgery
Background:
- Investigated malignant hyperthermia (MH) in two pediatric patients undergoing corrective surgery.
- Anesthetist raised concerns due to family history of unexplained pyrexial reactions to anesthesia.
- Previous encounters linked MH susceptibility to multiple congenital abnormalities in children.
Abstract:
Two children about to undergo corrective surgery were required to be investigated for malignant hyperthermia (MH). These investigations arose out of concern by the anesthetist who had obtained a history of unexplained pyrexial reactions to anaesthetic in other members of the family. Because over the years we have encountered several children with multiple congenital abnormalities who have been found to be susceptible to MH, we stressed the advisability of biopsying not only the patient but also the patient's parents. Positive responses for MH were obtained in the patients and in one of the parents on each occasion. The hypothesis of intrauterine MH with its pharmacogenetic propensity for heat production is considered as a possible etiological factor which may cause abnormalities of a congenital nature.