Anaes SAQs · Malignant hyperthermia
Investigation of malignant hyperthermia susceptibility
The MH work-up SAQ — the family history, the trigger-free interim anaesthetic, and the two complementary investigations: the in-vitro / caffeine-halothane contracture test (the gold standard, high sensitivity) and targeted RYR1 genetic testing (spares the biopsy when the familial mutation is known, but a negative result does not exclude susceptibility). Built on the Allen contracture-test paper and the EMHG 2025 investigation guideline.
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Prompt
A 30-year-old man whose father died under anaesthesia is referred before elective surgery. Outline how you would assess his risk of malignant hyperthermia susceptibility, and describe the investigations available to confirm or exclude it.
Question
A 30-year-old man whose father died under anaesthesia is referred before elective surgery. Outline how you would assess his risk of malignant hyperthermia susceptibility, and describe the investigations available to confirm or exclude it.
[11]References3ShowHide
- [15]Allen GC, Larach MG, Kunselman AR. The sensitivity and specificity of the caffeine-halothane contracture test: a report from the North American Malignant Hyperthermia Registry of MHAUS. Anesthesiology, 1998.PMID 9523799
- [11]Rüffert H, Gillies R, Hopkins PM, et al. European Malignant Hyperthermia Group 2025 guidelines for the investigation of malignant hyperthermia susceptibility. British Journal of Anaesthesia, 2026.PMID 41478797
- [13]Girard T, Treves S, Voronkov E, Siegemund M, Urwyler A. Molecular genetic testing for malignant hyperthermia susceptibility. Anesthesiology, 2004.PMID 15114203