Evaluation of Malignant Hyperthermia Features in Patients with Pathogenic or Likely Pathogenic RYR1 Variants Disclosed through a Population Genomic Screening Program
An erratum to this article was published (Anesthesiology, 1 May 2024 ↗)
Authors' conclusion
Results demonstrate a low frequency of classic intraanesthetic hypermetabolic phenotypes in an unselected population with actionable RYR1 variants.
Study context
- Population
- Participants of an unselected population genomic screening program (MyCode, Geisinger, US) with a pathogenic or likely pathogenic RYR1 variant disclosed through December 2020actionable RYR1 variant
- Participants
- 152 participants
- Outcome
- Rate of MH features or fulminant episodes after triggering agent exposure
Methodological detailsdouble-coded chart review, biobank-linked population genomic screening
- Double-coded chart review
- Biobank-linked population genomic screening
Main finding
As reported in the abstract
MH features after triggering agent exposure
- Anesthesia records documenting triggering agent exposure in ≥1 procedure
- 68 (44.7%)
- Dantrolene treatment or documented muscle rigidity, myoglobinuria, hyperkalemia, elevated creatine kinase, severe myalgia or tea-colored urine
- 0
- Possibly malignant hyperthermia (MH)-related findings (postoperative ICU admissions, hyperthermia, arterial blood gas evaluation, hypercapnia or tachycardia)
- 120
- Possibly MH-related findings deemed unlikely to be MH events
- 112 (93.3%)
- Possibly MH-related findings with insufficient records to determine etiology
- 8 (6.7%)
Observational data: associations, not effects.
Further findings
Prior MH susceptibility testing
- Previous documented genetic testing for MH susceptibility
- 0
- Previous contracture testing diagnosing MH susceptibility
- 1
Original publication
Evaluation of Malignant Hyperthermia Features in Patients with Pathogenic or Likely Pathogenic RYR1 Variants Disclosed through a Population Genomic Screening Program. Anesthesiology. Published 3 October 2023. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →