Is there a link between malignant hyperthermia and exertional heat illness?

Hopkins, Philip M.; Wappler, Frank

doi:10.1136/bjsm.2006.032516

Cited by 30 publications

(17 citation statements)

References 14 publications

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“…These observations support the suspected relationship between exertional heat illnesses, ERM, and MHS (Box 3) [15,25], with a fatal course especially in children illustrated in several reports. Nishio et al presented a young patient (2 years 9 months) that died of heat stroke after being left in a car in high environmental temperature.…”

Section: Box 2: Ryr1-related Exertional Rhabdomyolysis (Erm) In a 16-supporting

confidence: 87%

“…Such a link is plausible, considering 1) an uncontrolled rise in intracellular skeletal muscle calcium as the most important shared pathomechanism [15]; and 2) the common occurrence of MH and ERM in a number of porcine [16], equine [17] and murine [18,19] [20]. Three of these patients had RYR1 mutations but only hot-spots sequencing had been performed at the time [20].…”

Section: Ryr1-related (Exertional) Rhabdomyolysis ((E)rm)mentioning

confidence: 99%

“…[32,33] This clinical overlap has implications for some MHsusceptible patients and their capacity to exercise, as well as for clinicians treating and anesthetizing patients with histories of unexplained exertional heat and exercise illnesses [25]. [15,25,37] Exertional heat illness, ERM, and MH have similar pathophysiology: all three are hypermetabolic states that include high demand for adenosine triphosphate, accelerated oxidative, chemical, and mechanical stress of muscle, and uncontrolled increase in intracellular calcium.…”

Section: Box 2: Ryr1-related Exertional Rhabdomyolysis (Erm) In a 16-mentioning

confidence: 99%

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RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction

2016

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Section: Box 2: Ryr1-related Exertional Rhabdomyolysis (Erm) In a 16-supporting

confidence: 87%

Section: Ryr1-related (Exertional) Rhabdomyolysis ((E)rm)mentioning

confidence: 99%

Section: Box 2: Ryr1-related Exertional Rhabdomyolysis (Erm) In a 16-mentioning

confidence: 99%

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RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction

2016

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“…Therefore, no guidelines are currently available, but lifestyle and physical activity should probably not be modified. 13 Although minimal evidence indicates that exertion should be limited in patients with MH, they should still be appropriately informed and educated about preventive strategies and the importance of seeking medical attention if symptoms develop.…”

Section: Discussionmentioning

confidence: 99%

Exertional Heat Stroke and Susceptibility to Malignant Hyperthermia in an Athlete: Evidence for a Link?

Poussel

Guerci

Kaminsky

et al. 2015

Journal of Athletic Training

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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 lifethreatening 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 (40.28C) 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.Differential Diagnosis: Doping, use of drugs and toxic agents, exercise-associated hyponatremia, exertional heat illness.Treatment: 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.Uniqueness: 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.

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“…Predisposing factors such as insufficient heat acclimatisation, inadequate physical fitness or transient factors such as current febrile illness and sleep deprivation have been found to be influential 6. Links to malignant hyperthermia, an inherited skeletal muscle disorder, suggests a potential genetic predisposition 7. Running intensity may also play a significant role with several reports of athletes diagnosed with EHS who were unwilling to curtail their workload 4 5 8 9.…”

Section: Introductionmentioning

confidence: 99%

‘Too much of a coincidence’: identical twins with exertional heatstroke in the same race

Smith

Jones

Martin³

et al. 2016

BMJ Case Reports

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SUMMARYThis report discusses a unique case of monozygotic male twins who both collapsed with exertional heat stroke (EHS) during the same marathon in relatively cool conditions. The twins were official race pacers in a popular city marathon held in the early spring in the UK. Both recovered uneventfully due to the prompt recognition of EHS and use of aggressive cooling measures, which prevented life-threatening complications. The case illustrates that EHS is a complex illness with a possible genetic predisposition, which can occur among runners even in cooler conditions. This link is explored together with the influence of their role as race pacers and the additional backpack worn in the development of EHS. BACKGROUND

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Is there a link between malignant hyperthermia and exertional heat illness?

Cited by 30 publications

References 14 publications

RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction

RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction

Exertional Heat Stroke and Susceptibility to Malignant Hyperthermia in an Athlete: Evidence for a Link?

‘Too much of a coincidence’: identical twins with exertional heatstroke in the same race

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