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Referral indications for malignant hyperthermia susceptibility diagnostics in patients without adverse anesthetic events in the era of next-generation sequencing

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Luuk R van den Bersselaar, Anna Hellblom, Mejdan Gashi, Erik-Jan Kamsteeg, Nicol C Voermans, Heinz Jungbluth, Joris de Puydt, Luc Heytens, Sheila Riazi, Marc Mj Snoeck

Original languageEnglish
Pages (from-to)940-953
Number of pages14
JournalAnesthesiology
Volume136
Issue number6
Early online date14 Mar 2022
DOIs
E-pub ahead of print14 Mar 2022
Published1 Jun 2022

Bibliographical note

Funding Information: Dr. Heytens is supported by Norgine BV (Amsterdam, The Netherlands). The other authors declare no competing interests. Funding Information: Supported by the Radboud University Medical Center (Nijmegen, The Netherlands) Regional Junior Researcher Grant in collaboration with the Canisius Wilhelmina Hospital (Nijmegen, The Netherlands). Publisher Copyright: © 2022 Lippincott Williams and Wilkins. All rights reserved.

King's Authors

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.

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