Jalel Ziadi, Sobhi Mleyhi, Skander Ben Omrane, Adel Khayati
Department of Cardiovascular and Thoracic, Rabta Hospital, Medical University of Tunis, Tunis, Tunisia.
Ann Pediatr Cardiol. 2014 Jan;7(1):61-3. doi: 10.4103/0974-2069.126563.
Familial hypercholesterolemia (FH) is a dominantly inherited disorder caused by mutation at the locus for the low-density lipoprotein (LDL) receptor and is frequently associated with premature coronary artery disease and aortic valve involvement. The surgical treatment of these complications is accompanied by a high degree of risk, even in skillful hands. An intensive cholesterol-lowering therapy and LDL aphaeresis in association with surgery may be useful. The case of a 12-year-old girl, with a medical history of familial hypercholesterolemia is reported here, operated two years previously for valvular aortic stenosis; Ross intervention was done. She was readmitted for acute coronary syndrome. Three coronary artery bypass grafting was performed with saphenous veins with positive results.
家族性高胆固醇血症（FH）是一种由低密度脂蛋白（LDL）受体基因座突变引起的显性遗传性疾病，常与早发性冠状动脉疾病和主动脉瓣受累相关。即使由技术娴熟的医生操作，这些并发症的外科治疗也伴随着高度风险。强化降胆固醇治疗和低密度脂蛋白单采术联合手术可能会有帮助。本文报告了一名12岁女孩的病例，她有家族性高胆固醇血症病史，两年前因瓣膜性主动脉狭窄接受手术，进行了罗斯手术。她因急性冠状动脉综合征再次入院，采用大隐静脉进行了三次冠状动脉旁路移植术，效果良好。
