title: A rare genetic variant of the ryanodine receptor in a suspected malignant hyperthermia susceptible patient.
abstract: 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.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.
authors.affiliation: Thomas Jefferson University Hospital, Philadelphia, PA. Electronic address: mackay.ej@gmail.com.
authors.forename: Emily Jane
authors.initials: EJ
authors.lastname: MacKay
authors.affiliation: Thomas Jefferson University Hospital, Philadelphia, PA. Electronic address: c-w-wilkerson@comcast.net.
authors.forename: Carlos
authors.initials: C
authors.lastname: Wilkerson
authors.affiliation: Thomas Jefferson University Hospital, Philadelphia, PA. Electronic address: natalia.kraeva@uhn.ca.
authors.forename: Natalia
authors.initials: N
authors.lastname: Kraeva
authors.affiliation: Thomas Jefferson University Hospital, Philadelphia, PA. Electronic address: HRosenberg@barnabashealth.org.
authors.forename: Henry
authors.initials: H
authors.lastname: Rosenberg
authors.affiliation: Thomas Jefferson University Hospital, Philadelphia, PA. Electronic address: rugger123@hotmail.com.
authors.forename: Tara
authors.initials: T
authors.lastname: Kennedy
mesh_terms: D000293:Adolescent; D000771:Anesthesia, Intravenous; D001784:Blood Gas Analysis; D003620:Dantrolene / Q000627:therapeutic use; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D008297:Male; D008305:Malignant Hyperthermia / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D009125:Muscle Relaxants, Central / Q000627:therapeutic use; D009154:Mutation / Q000235:genetics*; D012151:Resuscitation; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D016103:Spinal Fractures / Q000209:etiology / Q000601:surgery; D013123:Spinal Fusion; D014947:Wounds and Injuries / Q000150:complications
chemical_list: D009125:Muscle Relaxants, Central; D019837:Ryanodine Receptor Calcium Release Channel; D003620:Dantrolene
keywords: Case report; Dantrolene; Genetic testing in MH; Genetic variation; Malignant hyperthermia; Ryanodine receptor