A case of sudden cardiac death due to mitochondrial disease. (March 2022)

• Record Type: Journal Article
• Authors: Yoshida, Kosho; Sato, Hiroaki; Kimura, Satoshi; Tanaka, Toshiko; Kasai, Kentaro
• Is Part Of: Legal medicine. Volume 55(2022)
• Publication Date: 2022-03
• Subjects: ATP adenosine triphosphate -- DKA diabetic ketoacidosis -- HHS hyperosmolar hyperglycemic state -- MELAS mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes -- mtDNA mitochondrial DNA -- WPW Wolff-Parkinson-White; Mitochondrial disease -- mtDNA -- m.3243A>G mutation -- Cardiac conduction system -- Mitochondrial size abnormality -- Mitochondrial cristae abnormality; Medical jurisprudence -- Periodicals; Forensic Medicine -- Periodicals; Médecine légale -- Périodiques; Medical jurisprudence; Periodicals; 614.1
• DOI: 10.1016/j.legalmed.2022.102026
• Languages: English
• ISSNs: 1344-6223

Abstract

Highlights: This is a rare case of sudden death caused by an accumulation of abnormal mitochondria in the cardiac conduction system. Electron microscopy revealed mitochondrial size abnormalities and mitochondrial cristae abnormalities in cells of the cardiac conduction system in the heart. Mitochondrial disease patients associated with the m.3243A>G mutation need to be alerted to disorders of the cardiac conduction system because of the possibility of sudden death. Abstract: A 25-year-old, emaciated man without medical treatment was found to have died suddenly at home by his mother. At autopsy, there were no injuries to his body, but significant circulatory insufficiency was observed. Electron microscopy revealed abnormal mitochondria in cells of the cardiac conduction system. The conduction system was filled with mitochondrial size abnormalities and mitochondrial cristae abnormalities. No notable abnormal findings were observed in other organs. Genetic examination of the blood revealed the mitochondrial pathogenetic variant m.3243A>G. Epileptic seizures, diabetic ketoacidosis, and hyperosmolar hyperglycemic state were unlikely to be the cause of sudden death. The cause of death was diagnosed as arrhythmia possibly induced by the failure of the cardiac conduction system due to mitochondrial disease. This is a rare case of sudden death caused by an accumulation of abnormal mitochondria in the cardiac conduction system.