Anthony Maino, Claire Dehaen-Rougelin, Anne-Frédérique Dalmas-Laurent, Lucie Guyant-Marechal, John Rendu, Julien Fauré, Nathalie Roux-Buisson
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引用次数: 0
Abstract
Malignant hyperthermia (MH) is a severe reaction occurring upon the use of certain pharmacological agents during anaesthesia. The reaction typically includes an uncontrolled increase of body temperature, muscle spasms, tachycardia and hypercapnia. Identifying a genetic aetiology in MH patient allows diagnostic confirmation and genetic screening of relatives at risk. MH susceptibility (MHS) has extensively been associated with heterozygous missense variants in the RYR1 gene of dominant inheritance, but new variants are still to be discovered. We report here a novel de novo RYR1 variant c.487C>G p.(Arg163Gly) identified in a young boy who experienced a peroperative MH crisis. To the best of our knowledge, this is the first case reporting this new RYR1 variant, paving the way for future diagnosis, but genetic counselling and presymptomatic screening may vary depending on the classification that is used.
期刊介绍：
The European Journal of Anaesthesiology (EJA) publishes original work of high scientific quality in the field of anaesthesiology, pain, emergency medicine and intensive care. Preference is given to experimental work or clinical observation in man, and to laboratory work of clinical relevance. The journal also publishes commissioned reviews by an authority, editorials, invited commentaries, special articles, pro and con debates, and short reports (correspondences, case reports, short reports of clinical studies).
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