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

Forensic Science, Medicine, and Pathology
Wenhe LiYiwu Zhou

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.

References

Apr 1, 1992·Journal of Clinical Pathology·R J PrescottG Williams
Mar 1, 1990·Biophysical Journal·M FillC F Louis
Apr 16, 1998·Journal of Medical Genetics·R RobinsonF R Ellis
Dec 11, 1999·Muscle & Nerve·K Jurkat-RottF Lehmann-Horn
May 24, 2000·British Journal of Anaesthesia·D ChamleyR L Brown
Jan 10, 2002·American Journal of Medical Genetics·W BurkeN A Press
Oct 10, 2002·Forensic Science International : Synergy·B Karger, K Teige
Jun 1, 1962·British Journal of Anaesthesia·M A DENBOROUGHJ D VILLIERS
Dec 4, 2004·The American Journal of Forensic Medicine and Pathology·Lydia R Christiansen, Kim A Collins
Jun 16, 2005·JAMA : the Journal of the American Medical Association·Ronald S Litman, Henry Rosenberg
Jan 2, 2007·TheScientificWorldJournal·Barbara W Brandom
Apr 26, 2007·Orphanet Journal of Rare Diseases·Henry RosenbergKathryn Stowell
Sep 15, 2010·British Journal of Anaesthesia·K P E GlahnUNKNOWN European Malignant Hyperthermia Group
Jan 21, 2011·European Journal of Human Genetics : EJHG·Henry Rosenberg, Henrik Rueffert
Nov 19, 2011·Acta Anaesthesiologica Scandinavica·T MigitaM Kawamoto
Jun 7, 2012·International Journal of Legal Medicine·Cristian Palmiere, Patrice Mangin
Dec 25, 2012·American Journal of Health-system Pharmacy : AJHP : Official Journal of the American Society of Health-System Pharmacists·Megan E Musselman, Suprat Saely
Jan 22, 2014·Anesthesia and Analgesia·Kathryn M Stowell
Aug 5, 2015·Orphanet Journal of Rare Diseases·Henry RosenbergKathryn Stowell

❮ Previous
Next ❯

Citations

Jul 11, 2019·International Journal of Legal Medicine·Nina MahlkeB Hartung
Sep 14, 2020·Journal of the Formosan Medical Association = Taiwan Yi Zhi·Huei-Ming YehPei-Lung Chen

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.