Gao Mingxin, Yu Wenyuan, Hu Hui, Liu Hongli, Fan Kangjun, Gu Chengxiong, Wang Lvya, Yu Yang
Department of Cardiac Surgery, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.
Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.
Front Pediatr. 2020 Oct 22;8:535949. doi: 10.3389/fped.2020.535949. eCollection 2020.
Homozygous familial hypercholesterolemia (HoFH) is a rare, autosomal dominant, hereditary, metabolic disease. HoFH patients exhibit severe coronary stenosis and valvular disease, which may result in sudden death, even during adolescence. The challenges faced during surgery and the poor curative effect of conventional lipid-lowering therapy create a treatment bottleneck. We report a rare case of HoFH in a 12-years-old boy with acute myocardial infarction, severe mitral insufficiency, and moderate aortic insufficiency. Coronary artery bypass grafting and valvuloplasty resulted in improved heart function. Postoperative combined lipid-lowering drug therapy was able to reduce low-density lipoprotein cholesterol level from 15.37 mm/L to 6.41 mmol/L. Thus, the combination of medical and surgical treatment was considered effective and can be used to inform treatment guidelines for HoFH with severe complications.
纯合子家族性高胆固醇血症（HoFH）是一种罕见的常染色体显性遗传性代谢疾病。HoFH患者表现出严重的冠状动脉狭窄和瓣膜疾病，甚至在青春期也可能导致猝死。手术过程中面临的挑战以及传统降脂治疗的疗效不佳造成了治疗瓶颈。我们报告了一例罕见的12岁HoFH男孩病例，该男孩患有急性心肌梗死、严重二尖瓣关闭不全和中度主动脉瓣关闭不全。冠状动脉搭桥术和瓣膜成形术使心脏功能得到改善。术后联合降脂药物治疗能够将低密度脂蛋白胆固醇水平从15.37mmol/L降至6.41mmol/L。因此，药物治疗与手术治疗相结合被认为是有效的，可用于为伴有严重并发症的HoFH制定治疗指南提供参考。
