A rare genetic variant of the ryanodine receptor in a suspected malignant hyperthermia susceptible patient

作者：MacKay Emily Jane^*; Wilkerson Carlos; Kraeva Natalia; Rosenberg Henry; Kennedy Tara

来源：Journal of Clinical Anesthesia, 2016, 33: 144-146.

DOI：10.1016/j.jclinane.2016.02.038

• Malignant hyperthermia
• Ryanodine receptor
• Genetic variation
• Genetic testing in MH
• Dantrolene
• Case report

Malignant 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.A1a4185Thr), 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.

• 出版日期2016-9