摘要/Abstract

摘要： 丙酸血症是常染色体隐性遗传的有机酸血症。除生长发育障碍和中枢神经系统损伤外，其最主要的中远期并发症，同时也是常见的致死原因，包括扩张型心肌病和心律失常（长Q-T间期综合征和心室颤动等）。心血管受累的机制包括丙酸等代谢产物过量引起心肌细胞线粒体能量代谢紊乱、氧化应激损伤和离子通道受损等。目前尚无公认的丙酸血症心肌病治疗指南。有观点认为，肝脏移植可以纠正代谢紊乱从而逆转心肌病变，而抗氧化剂和提高心肌能量供应的药物有望成为未来丙酸血症心肌病的治疗方案。
关键词: 丙酸血症, 心肌病, 心律失常, 长Q-T间期综合征
Abstract:
Propionic acidemia (PA) is an autosomal recessive disorder of organic acidemia. In addition to developmental delay and central nervous system damage, its most important mid- and long-term complications include dilated cardiomyopathy and arrhythmia (long Q-T syndrome and ventricular fibrillation, etc.), which are also major causes of mortality. The mechanisms of cardiovascular involvement include disorder of mitochondrial energy metabolism, oxidative stress and ion channel damage caused by excessive metabolites such as propionic acid. There are no recognized guidelines for the treatment of PA-related cardiomyopathy. Liver transplantation is recognized as a method to correct metabolic disorders and reverse cardiomyopathy. Antioxidants and drugs that increase myocardial energy supply are expected to become the future treatment options for PA-related cardiomyopathy.
Key words: propionic acidemia (PA), cardiomyopathy, arrhythmia, long Q-T syndrome


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