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Evaluation of Malignant Hyperthermia Features in Patients with Pathogenic or Likely Pathogenic RYR1 Variants Disclosed through a Population Genomic Screening Program.

Anesthesiology - 1 Jan 2024

Yu Kristen D, Betts Megan N, Urban Gretchen M, Schwartz Marci L B, Robinson Tanisha O, Moyer Robert J, Taddonio Scott W, Vasudevan Anasuya, Johns Alicia, Sturm Amy C, Kelly Melissa A, Williams Marc S, Poler S Mark, Buchanan Adam H

Abstract excerpt

BACKGROUND: Malignant hyperthermia (MH) susceptibility is a heritable musculoskeletal disorder that can present as a potentially fatal hypermetabolic response to triggering anesthesia agents. Genomic screening for variants in MH-associated genes RYR1 and CACNA1S provides an opportunity to prevent morbidity and mortality. There are limited outcomes data from disclosing variants in RYR1, the most common MH...

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PMID: 37787745
DOI: 10.1097/ALN.0000000000004786

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