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A case report of malignant hyperthermia in a patient with myotonic dystrophy type I: A CARE-compliant article

Seon Woo Yoo1,2, Seon Ju Baek1, Dong-Chan Kim1,2

  • 1Department of Anesthesiology and Pain Medicine, Jeonbuk National University Medical School.

Medicine
|June 11, 2021
PubMed
Abstract

Insights

Malignant hyperthermia (MH) risk in myotonic dystrophy type I (DM1) may be higher than previously thought. Genetic screening for MH susceptibility is recommended for DM1 patients before general anesthesia.

Area of Science:

  • Anesthesiology
  • Genetics
  • Neuromuscular Disorders

Background:

  • Hereditary myopathies can predispose individuals to malignant hyperthermia (MH).
  • The risk of MH in myotonic dystrophy type I (DM1) has been considered similar to the general population, based on limited evidence.
  • This study investigates a rare case of MH in an undiagnosed DM1 patient.

Observation:

  • A male adolescent with previously undiagnosed DM1 experienced MH during anesthesia induction with sevoflurane.
  • Genetic testing revealed a novel heterozygous missense mutation in RYR1, a gene associated with MH.
  • The patient was also diagnosed with DM1, confirmed by cytosine-thymine-guanine triplet expansion in the DMPK gene.

Findings:

  • The patient successfully recovered after prompt administration of dantrolene.
  • Laboratory abnormalities normalized within four days post-surgery.
  • A previously unknown RYR1 mutation was identified in conjunction with DM1.

Implications:

  • The findings suggest a potential need to re-evaluate MH susceptibility in DM1 patients.
  • Genetic testing for MH susceptibility could serve as a valuable screening tool for DM1 patients prior to general anesthesia.
  • This case highlights the importance of considering MH in patients with undiagnosed neuromuscular disorders.

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