title: Exertional Heat Stroke and Susceptibility to Malignant Hyperthermia in an Athlete: Evidence for a Link?
abstract: OBJECTIVE
  To describe the possible association (pathophysiologic and clinical features) between exertional heat stroke (EHS) and malignant hyperthermia (MH).
  
  
  BACKGROUND
  Both EHS and MH are acute and life-threatening disorders. It has repeatedly been shown that EHS can occur in well-trained patients with known MH-associated mutation in the RYR1 gene in the absence of any extreme environmental conditions or extreme physical activity, thereby supporting a possible link between EHS and MH. In this case, a highly trained 30-year-old male athlete suddenly collapsed while running. He had initial hyperthermia (40.2°C) and progressive multiple organ failure requiring medical management in an intensive care unit. After he recovered completely, a maximal exercise test was performed and showed an obvious abnormality of oxidative metabolism in muscle; genetic analysis of the RYR1 gene identified a heterozygous missense variation p.K1393R. Consequently, the athlete was given appropriate information and allowed to progressively return to sport competition.
  
  
  METHODS
  Doping, use of drugs and toxic agents, exercise-associated hyponatremia, exertional heat illness.
  
  
  METHODS
  Initial management started with the basic resuscitative guidelines of airway, breathing, and circulation (intubation). Cooling, administration of fresh frozen plasma, and intensive rehydration resulted in improvement.
  
  
  RESULTS
  To our knowledge, ours is the first description of this MH mutation (p.K1393R) in the RYR1 gene that was associated with exertional rhabdomyolysis involving a dramatic impairment of oxidative metabolism in muscle.
  
  
  CONCLUSIONS
  Common features are shared by EHS and MH. Careful attention must therefore be paid to athletes who experience EHS, especially in temperate climates or when there are no other predisposing factors.
authors.affiliation: Centre Hospitalier Regional Universitaire de Nancy, France;
authors.forename: Mathias
authors.initials: M
authors.lastname: Poussel
authors.affiliation: Centre Hospitalier Regional Universitaire de Nancy, France;
authors.forename: Philippe
authors.initials: P
authors.lastname: Guerci
authors.affiliation: Centre Hospitalier Regional Universitaire de Nancy, France;
authors.forename: Pierre
authors.initials: P
authors.lastname: Kaminsky
authors.affiliation: Centre Hospitalier Regional Universitaire de Nancy, France;
authors.forename: Marie
authors.initials: M
authors.lastname: Heymonet
authors.affiliation: Centre Hospitalier Universitaire de Grenoble, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Roux-Buisson
authors.affiliation: Centre Hospitalier Universitaire de Grenoble, France.
authors.forename: Julien
authors.initials: J
authors.lastname: Faure
authors.affiliation: Centre Hospitalier Regional Universitaire de Nancy, France;
authors.forename: Emilien
authors.initials: E
authors.lastname: Fronzaroli
authors.affiliation: Centre Hospitalier Regional Universitaire de Nancy, France;
authors.forename: Bruno
authors.initials: B
authors.lastname: Chenuel
mesh_terms: D000328:Adult; D005080:Exercise Test; D005538:Football / Q000502:physiology; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D018883:Heat Stroke / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008305:Malignant Hyperthermia / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D005082:Physical Exertion / Q000502:physiology; D012206:Rhabdomyolysis / Q000235:genetics; D012420:Running / Q000502:physiology*; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D012640:Seizures / Q000235:genetics
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel
keywords: RYR1 gene; exertional rhabdomyolysis; heat illness; thermoregulation