P619: Risk factors for malignant hyperthermia crises and subsequent complications to inform model development for population newborn screening
Malignant hyperthermia (MH) is a life-threatening hypermetabolic reaction to potent inhaled anesthetics and succinylcholine due to dysregulated calcium homeostasis in skeletal muscle. MH susceptibility is inherited in an autosomal dominant fashion with reduced penetrance and variable presentation. Genomic screening for pathogenic variants in RYR1 and CACNA1S can identify individuals with MH susceptibility and allow clinicians to use alternative medications to avoid crisis events. The American College of Medical Genetics and Genomics recommends screening for MH variants as a secondary finding during clinical genomic sequencing, and an increasing number of population-level research programs (eg, All of Us) and clinical systems screen for MH variants as an optional service.
Authors
- Hadley Stevens Smith (ORCID: https://orcid.org/0000-0003-1247-6535)
- Henry Rosenberg (ORCID: https://orcid.org/0000-0002-3360-5378)
- Jennifer M. Yeh (ORCID: https://orcid.org/0000-0002-2724-7404)
- Madison Hickingbotham
- Shawneequa Callier (ORCID: https://orcid.org/0000-0002-1007-333X)
- Kurt D. Christensen (ORCID: https://orcid.org/0000-0003-4068-776X)
- Sarah Stein (ORCID: https://orcid.org/0000-0003-0024-1675)
- M.L. Henry
- Davene R. Wright (ORCID: https://orcid.org/0000-0002-8574-4572)
- Hyun Joon Kim (ORCID: https://orcid.org/0000-0001-8198-8740)
- Marilyn Green Larach (ORCID: https://orcid.org/0000-0001-6670-8464)
- Caitlyn Limanto
Institutions
- Boston Children's Hospital (US)
- Vanderbilt University (US)
- National Human Genome Research Institute (US)
- Harvard Pilgrim Health Care (US)
- Boston Children's Museum (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102467
- Citations
- 1
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 1.63