| Malignant Hyperthermia susceptibility |
| Geno
|
Mag
|
Summary
|
| (A;G)
|
6.6
|
Malignant Hyperthermia susceptibility
|
| (G;G)
|
0
|
common in clinvar
|
This is a genotype with recommended actions if clinically confirmed. In brief:
- Malignant hyperthermia susceptibility (MHS) is characterized by uncontrolled skeletal muscle hypermetabolism upon exposure to certain volatile anesthetics. This almost always occurs during anesthesic use during an operation and is a life-threatening condition.
- Certain mutations in the RYR1 and CACNA1S genes are the primary causes of MHS.
- A decision sheet to help clinicians treat patients with MH mutations is available here.
- Pregnant women with MHS requiring anesthetics should seek MH-compatible alternatives.
- Certain anesthetics should not be used in MH patients: inhaled general anesthetics (Desflurane, Enflurane, Halothane, Isoflurane, Sevoflurane) and depolarizing muscle relaxants (Succinylcholine).
- Other triggers for some (but not all) MH patients include heat or heavy exercise.
The full ClinGen Actionability report about malignant hyperthermia susceptibility (MH) can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.
