关键词: MIPEP基因, 扩张型心肌病, 联合氧化磷酸化缺陷

Abstract: Mutations in the mitochondrial intermediate peptidase (MIPEP) gene can cause impaired function of the heart, brain and other organs.We collected and analyzed the clinical data of a child diagnosed with combined oxidative phosphorylation deficiency type 31, who was admitted to Children's Hospital of Fudan University and presented with cardiomyopathy as the initial symptom. We present the case of a girl who exhibited dilated cardiomyopathy, heart failure, developmental delay, and subsequently experienced epileptic seizures and multiple organ failure. Whole-exome sequencing revealed that she had a homozygous recessive mutation in the MIPEP gene. Mitochondrial dysfunction can affect single or multiple organs. In cases of cardiomyopathy or heart failure with no identifiable cause, mitochondrial disease should be considered as a potential diagnosis. Furthermore, cooperating with Clinical Genetics, Neurology, and other relevant departments is necessary for a comprehensive approach to diagnosis and treatment.

Key words: MIPEP gene, Dilated cardiomyopathy, Combined oxidative phosphorylation deficiency