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Case Reports
A rare genetic variant of the ryanodine receptor in a suspected malignant hyperthermia susceptible patient.
- Emily Jane MacKay, Carlos Wilkerson, Natalia Kraeva, Henry Rosenberg, and Tara Kennedy.
- Thomas Jefferson University Hospital, Philadelphia, PA. Electronic address: mackay.ej@gmail.com.
- J Clin Anesth. 2016 Sep 1; 33: 144-6.
AbstractMalignant hyperthermia (MH) remains a diagnostic challenge. This case report describes the anesthetic management of a suspected intraoperative MH episode and the subsequent, genetic sequence analysis of 3 genes associated with MH. The results of the molecular genetic testing revealed heterozygosity for a rare variant, c.12553G>A (p.Ala4185Thr), in the RYR1 gene encoding the ryanodine receptor. Although the RYR1 gene has previously been implicated in the pathogenesis of MH, (1) this particular variant has only been reported in one other case of MH; (2) the role for diagnostic genetic testing in the diagnosis of MH will be examined.Copyright © 2016 Elsevier Inc. All rights reserved.
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