A case of sudden cardiac death due to mitochondrial disease |
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| Institution: | 1. Department of Forensic Medicine, School of Medicine, University of Occupational and Environmental Health Japan, Iseigaoka 1-1, Yahatanishi, Kitakyushu, Japan;2. Department of Clinical Pathology, Kitakyushu Municipal Yahata Hospital, Ogura2-6-2, Yahatahigashi, Kitakyushu, Japan;1. School of Forensic Medicine, Kunming Medical University, Kunming, China;2. Yuxi Public Security Bureau, Yuxi, China;3. Kunming Public Security Bureau, Kunming, China;4. Judicial Expertise Center, Kunming Medical University, Kunming, China;1. School of Forensic Medicine, Kunming Medical University, Kunming City, Yunnan Province, PR China;2. Judicial Expertise Center, Kunming Medical University, Kunming City, Yunnan Province, PR China;3. Pu''er Public Security Bureau, Pu''er City, Yunnan Province, PR China;1. Department of Forensic Medicine, Saitama Medical University, Saitama, Japan;2. Department of Forensic Medicine, Juntendo University Graduate School of Medicine, Tokyo, Japan;3. Tokyo Medical Examiner’s Office, Tokyo, Japan;4. Department of Forensic Medicine, Hirosaki University Graduate School of Medicine, Aomori, Japan;1. First Department of Forensic Science, National Research Institute of Police Science, 6-3-1 Kashiwanoha, Kashiwa, Chiba 277-0882, Japan;2. Department of Biostatistics, Graduate School of Medicine, Hokkaido University, Nishi 15, Kita 7, Sapporo, Hokkaido 060-8638, Japan;3. Department of Forensic Dentistry, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8510, Japan;1. West China School of Basic Medical Sciences and Forensic Medicine, Sichuan University, Chengdu, Sichuan 610041, PR China;2. Criminal Investigation Department of Sichuan Provincial Public Security Bureau, Chengdu, Sichuan 610015, PR China;3. Department of Stomatology, People''s Hospital of Tibet Autonomous Region, Tibet Autonomous Region, Lhasa 540000, PR China;4. Shanghai Key Laboratory of Forensic Medicine, Academy of Forensic Science, Ministry of Justice, 1347# West Guangfu Road, Shanghai 200063, PR China |
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| 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. |
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| Keywords: | Mitochondrial disease mtDNA m 3243A>G mutation Cardiac conduction system Mitochondrial size abnormality Mitochondrial cristae abnormality |
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