Genomic Screening for Malignant Hyperthermia Susceptibility

Abstract

It is timely to consider the utility and practicability of screening for malignant hyperthermia susceptibility using genomic testing. Here the authors pose a simple, but bold question: what would it take to end deaths from malignant hyperthermia? The authors review recent advances and propose a scientific and clinical pathway toward this audacious goal to provoke discussion in the field.

Figure:

A model for the future management of malignant hyperthermia susceptibility risk through genomic screening. The blue boxes represent the current, phenotypic ascertainment approach to malignant hyperthermia susceptibility, where neither contracture tests nor DNA testing is practical and the purple boxes represent the proposed future approach, supplementing the present approach. ‘Abnormal testing’ means the presence of a variant that is likely to cause malignant hyperthermia susceptibility. ‘Not abnormal testing’ is the converse of that result. Boxes with an asterisk indicate steps that contracture testing should be considered to assess malignant hyperthermia risk. Note that contracture testing may be done prior to DNA testing or reserved for those who show no abnormality on sequencing. The phrase ‘history of malignant hyperthermia’ should be considered as at least a reasonably strong history and ‘malignant hyperthermia reaction’ should be considered as at least reasonably strong evidence of a malignant hyperthermia reaction.