Nemati Mohammad Hassan
Cardiac Surgery Department, Faghihi Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
J Heart Valve Dis. 2009 Jan;18(1):125-7.
Homozygous familial hypercholesterolemia (FH) is an autosomal dominant disease caused by a mutation in the low-density lipoprotein (LDL) receptor. This mutation can lead to increased serum LDL, and subsequently to premature coronary artery disease. It may also lead to valvular and supravalvular aortic stenosis, these complications being cardinal in the natural course of the disease. The surgical treatment of aortic stenosis in patients with homozygous FH is accompanied by high risk, even in skillfu1 hands. Herein is presented the long-term follow up of a young patient with homozygous FH who underwent coronary artery bypass graft surgery at the age 14 years. Although the patient developed aortic stenosis five years later, neither the native coronary vessels nor grafted vessels underwent any atherosclerotic changes during this period.
纯合子家族性高胆固醇血症（FH）是一种由低密度脂蛋白（LDL）受体突变引起的常染色体显性疾病。这种突变会导致血清LDL升高，进而引发早发性冠状动脉疾病。它还可能导致瓣膜性和瓣膜上主动脉狭窄，这些并发症是该疾病自然病程中的主要特征。即使是技术娴熟的医生，对纯合子FH患者进行主动脉狭窄手术治疗也伴随着高风险。本文介绍了一名14岁接受冠状动脉搭桥手术的纯合子FH年轻患者的长期随访情况。尽管该患者五年后出现了主动脉狭窄，但在此期间，其原生冠状动脉血管和移植血管均未发生任何动脉粥样硬化改变。
