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Sudden death due to malignant hyperthermia with a mutation of RYR1: autopsy, morphology and genetic analysis.
Forensic Sci Med Pathol. 2017 Dec; 13(4):444-449.FS

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.

Authors+Show Affiliations

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. Department of Pathology, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Techology, Wuhan, People's Republic of China.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.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.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.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. zhouyiwu@outlook.com.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

29101530

Citation

Li, Wenhe, et al. "Sudden Death Due to Malignant Hyperthermia With a Mutation of RYR1: Autopsy, Morphology and Genetic Analysis." Forensic Science, Medicine, and Pathology, vol. 13, no. 4, 2017, pp. 444-449.
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. 2017;13(4):444-449.
Li, W., Zhang, L., Liang, Y., Tong, F., & Zhou, Y. (2017). Sudden death due to malignant hyperthermia with a mutation of RYR1: autopsy, morphology and genetic analysis. Forensic Science, Medicine, and Pathology, 13(4), 444-449. https://doi.org/10.1007/s12024-017-9925-y
Li W, et al. Sudden Death Due to Malignant Hyperthermia With a Mutation of RYR1: Autopsy, Morphology and Genetic Analysis. Forensic Sci Med Pathol. 2017;13(4):444-449. PubMed PMID: 29101530.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Sudden death due to malignant hyperthermia with a mutation of RYR1: autopsy, morphology and genetic analysis. AU - Li,Wenhe, AU - Zhang,Lin, AU - Liang,Yue, AU - Tong,Fang, AU - Zhou,Yiwu, Y1 - 2017/11/04/ PY - 2017/09/15/accepted PY - 2017/11/5/pubmed PY - 2017/12/2/medline PY - 2017/11/5/entrez KW - Forensic pathology KW - Malignant hyperthermia KW - Molecular autopsy KW - Mutation of RYR1 KW - TEM SP - 444 EP - 449 JF - Forensic science, medicine, and pathology JO - Forensic Sci Med Pathol VL - 13 IS - 4 N2 - 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. SN - 1556-2891 UR - https://www.unboundmedicine.com/medline/citation/29101530/Sudden_death_due_to_malignant_hyperthermia_with_a_mutation_of_RYR1:_autopsy_morphology_and_genetic_analysis_ L2 - https://dx.doi.org/10.1007/s12024-017-9925-y DB - PRIME DP - Unbound Medicine ER -