title: Pathological findings in 165 patients explored for malignant hyperthermia susceptibility.
abstract: The pathological findings in 165 patients explored for malignant hyperthermia (MH) susceptibility are reported. The first group of 120 subjects were patients investigated for MH. These patients had suffered an attack of MH under anaesthetic or were members of families in which a subject had died of MH. In vitro contracture tests revealed 25 malignant hyperthermia susceptible (MHS) subjects, with positive contracture tests for halothane and caffeine, 5 malignant hyperthermia subjects with reaction to caffeine only (MHC), 3 malignant hyperthermia subjects with reaction to halothane only (MHH) and 87 malignant hyperthermia negative (MHN) subjects with normal contracture tests. The second group of 45 subjects had exertional heat stroke. In vitro contracture tests performed at least 3 months after the exertional heat stroke revealed 11 MHS, 6 MHC, 2 MHH subjects and 26 MHN. In both groups, whatever the in vitro contracture test results, pathological findings were heterogeneous and revealed various changes: rhabdomyolysis, mitochondrial myopathy, denervation, type II atrophy, AMPase deficiency, non-specific findings or normal features. Central core myopathy was only observed in the first subgroup and was the only disease significantly associated with MH. In contrast to previous reports, this study demonstrates the absence of a specific malignant hyperthermia or exertional heat stroke myopathy. Furthermore, the discovery of MHS subjects among the EHS group of patients highlights the need for systematic exploration of all these patients.
authors.affiliation: Laboratoire de Biopathologie Nerveuse et Musculaire, Faculté de Medecine Timone, Marseille, France.
authors.forename: D
authors.initials: D
authors.lastname: Figarella-Branger
authors.forename: G
authors.initials: G
authors.lastname: Kozak-Ribbens
authors.forename: L
authors.initials: L
authors.lastname: Rodet
authors.forename: M
authors.initials: M
authors.lastname: Aubert
authors.forename: J
authors.initials: J
authors.lastname: Borsarelli
authors.forename: P J
authors.initials: PJ
authors.lastname: Cozzone
authors.forename: J F
authors.initials: JF
authors.lastname: Pellissier
mesh_terms: D020022:Genetic Predisposition to Disease; D006801:Humans; D008305:Malignant Hyperthermia / Q000235:genetics* / Q000473:pathology*; D009132:Muscles / Q000473:pathology*; D009135:Muscular Diseases / Q000235:genetics / Q000473:pathology*; D009468:Neuromuscular Diseases / Q000235:genetics / Q000473:pathology*