Sudden death due to mitochondrial diseases / 中国实用儿科杂志

ABSTRACT

Sudden unexpected death means a "healthy" person died suddenly of unknown diseases,usually within 6 hours after onset. It is reported that sudden unexpected death occurred from neonates(sudden infant death syndrome)to adults(sudden adult death syndrome). The patients suddenly died during daily activities,sleep or exercise. Underlying genetic diseases are main cause of sudden death. The etiological studies are performed in the patients of sudden death. Heart attack and encephalopathy due to varied genetic disorders are the two major causes. Sudden cardiac death accounts for more than half. It is known that some inherited metabolic diseases associated with sudden death sometimes. Mitochondrial diseases are a group of inherited metabolic diseases. Some patients of mitochondrial diseases suddenly died of acute heart failure,malignant arrhythmia or encephalopathy. With the advancement of genetic technology,post-mortem genetic diagnosis became available in some cases. The definite genetic diagnosis is the key for the genetic counseling of the families and prenatal diagnosis of their fetuses.