Referral Indications for Malignant Hyperthermia Susceptibility Diagnostics in Patients without Adverse Anesthetic Events in the Era of Next-generation Sequencing. (14th March 2022)

• Record Type: Journal Article
• Authors: van den Bersselaar, Luuk R.; Hellblom, Anna; Gashi, Mejdan; Kamsteeg, Erik-Jan; Voermans, Nicol C.; Jungbluth, Heinz; de Puydt, Joris; Heytens, Luc; Riazi, Sheila; Snoeck, Marc M. J.
• Is Part Of: Anesthesiology. Volume 136:Number 6(2022)
• Page Start: 940
• Page End: 953
• Publication Date: 2022-03-14
• Subjects: Anesthesiology -- Periodicals; Anesthetics -- Periodicals; Anesthesia -- Periodicals; 617.9605
• DOI: 10.1097/ALN.0000000000004199
• Languages: English
• ISSNs: 0003-3022

Abstract

Abstract : Background: The introduction of next-generation sequencing into the diagnosis of neuromuscular disorders has resulted in an increased number of newly identified RYR1 variants. The hypothesis was that there is an increased referral of patients to malignant hyperthermia units without a personal/family history of adverse anesthetic events suspected to be malignant hyperthermia. This retrospective multicenter cohort study evaluates patient referral indications and outcomes for those without a history of an adverse anesthetic event. Methods: Patients referred between 2010 and 2019 to the malignant hyperthermia units in Antwerp, Belgium; Lund, Sweden; Nijmegen, The Netherlands; and Toronto, Ontario, Canada were included. Previously tested patients and relatives of previously tested patients were excluded. Data collection included demographics, referral details, muscle contracture, and genetic testing results including Rare Exome Variant Ensemble Learner scores. Referral indications were categorized into those with a personal/family history of adverse anesthetic event and other indications including exertional and/or recurrent rhabdomyolysis, RYR1 variant(s) detected in diagnostic testing in the neuromuscular clinic without a specific diagnosis (in a family member), diagnosed RYR1 -related myopathy (in a family member), idiopathically elevated resting creatine kinase values, exertional heat stroke, and other. Results: A total of 520 medical records were included, with the three most frequent referral indications as follows: personal history of an adverse anesthetic event (211 of 520; 40.6%), family history of an adverse anesthetic event (115 of 520; 22.1%), and exertional and/or recurrent rhabdomyolysis (46 of 520; 8.8%). The proportion of patients referred without a personal/family history of an adverse anesthetic event increased to 43.6% (133 of 305) between 2015 and 2019 compared to 28.4% (61 of 215) in 2010 to 2014 ( P < 0.001). Patients with a personal/family history of an adverse anesthetic event were more frequently diagnosed as malignant hyperthermia–susceptible (133 of 220; 60.5%) than those without (47 of 120; 39.2%; P < 0.001). Due to missing data, 180 medical records were excluded. Conclusions: The proportion of patients referred to malignant hyperthermia units without a personal/family history of an adverse anesthetic event has increased, with 39.2% (47 of 120) diagnosed as malignant hyperthermia–susceptible. Abstract : The hypothesis that there is an increased referral to malignant hyperthermia units of patients without a personal or family history of adverse anesthetic events suspected to be malignant hyperthermia was tested in a retrospective multicenter cohort study. The proportion of patients referred without a personal or family history of adverse anesthetic events increased from 28.4% (61 of 215) between 2010 and 2014 to 43.6% (133 of 305) between 2015 and 2019. Patients with a personal or family history of adverse anesthetic events were more frequently diagnosed as malignant hyperthermia–susceptible (133 of 220; 60.5%) than those without (47 of 120; 39.2%).