Change of Anesthesia Management for a Patient Undergoing CABG by an Incidental Finding of a Genetic Variant Associated with Malignant Hyperthermia

الملخص EN

Malignant hyperthermia (MH) is a rare life-threatening hypermetabolic muscular disorder with a high mortality rate.

Three genes, RYR1, CACNA1S, and STAC3, have been associated with MH susceptibility.

Multiple genetic variants have been identified in these three genes.

Some of those variants were pathogenic, but many others are yet to be tested.

Such uncertainty can make it challenging for anesthesia providers as there is currently no anesthesia guideline for each genetic variant in patients who have neither clinical nor family history of MH.

With the increasing popularity of whole exome sequencing, anesthesia providers will likely face such challenges more often as many patients may have genetic variations of unknown clinical significance in their RYR1, CACNA1S, or STAC3 genes.

Here we describe change of anesthesia management for a patient who had an incidental finding of a genetic variant in RYR1 gene undergoing an elective coronary artery bypass surgery.