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Sudden death due to malignant hyperthermia with a mutation of RYR1: autopsy, morphology and genetic analysis

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Abstract

Malignant hyperthermia (MH) is an autosomal dominant disorder characterized by abnormal calcium homeostasis in skeletal muscles in response to triggering agents. Autopsy, morphology, and genetic analysis were performed on a 19-year-old man who died rapidly after exposure to sevoflurane during maxillofacial surgery. Muscle spasm around the operation area and limb rigidity occurred and renal tubules full of myoglobin casts were observed by microscopy. Ultrastructural changes in the skeletal muscles and the myocardium were detected by transmission electron microscopy (TEM). Genetic analysis disclosed a ryanodine receptor type 1 (RYR1) gene mutation and a nucleoide mutation in chromosome 19q (G1021A) in the deceased and his father. According to the fore mentioned results, the relationship between the cause of death and MH was confirmed. Thus, genetic analysis can be an important procedure in diagnosing MH.

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Acknowledgements

This work was supported by National Key Research and Development Program of China (2016YFC0800701), the Fundamental Research Funds for the Central Universities, HUST (No. 2016JCTD117) and the National Natural Science Foundation of China (No. 81273336).

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Authors and Affiliations

  1. Department of Forensic Medicine, Tongji Medical College of Huazhong University of Science and Technology, NO.13 Hangkong Road, Wuhan, 430030, People’s Republic of China

    Wenhe Li, Lin Zhang, Yue Liang, Fang Tong & Yiwu Zhou

  2. Department of Pathology, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Techology, Wuhan, People’s Republic of China

    Wenhe Li

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  1. Wenhe Li
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  2. Lin Zhang
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  3. Yue Liang
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Correspondence to Yiwu Zhou.

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This study was approved by the Ethics Committee of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China, and written informed consent was obtained from the family members of the patient.

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Li, W., Zhang, L., Liang, Y. et al. Sudden death due to malignant hyperthermia with a mutation of RYR1: autopsy, morphology and genetic analysis. Forensic Sci Med Pathol 13, 444–449 (2017). https://doi.org/10.1007/s12024-017-9925-y

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  • DOI: https://doi.org/10.1007/s12024-017-9925-y

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