家族性高胆固醇血症累及心血管系统的临床特点分析  

The Clinical Characteristics of Cardiovascular Involvement in Patients With Familial Hypercholesterolemia

作　　者：张沛[1] 支爱华[1] 戴汝平[1] 

机构地区：[1]中国医学科学院北京协和医学院心血管病研究所阜外心血管病医院冠心病诊治中心,北京市100037

出　　处：《中国循环杂志》2014年第5期327-330,共4页Chinese Circulation Journal

摘　　要：目的：评价家族性高胆固醇血症（FH）累及心血管系统的临床特点。方法：回顾分析2002-01至2013—11我院经临床诊断为FH的14例患者，其中男性10例，女性4例，年龄8～39【（平均（24．43±9．88）】岁。14例患者均行超声心动图检查，11例患者行冠状动脉计算机断层摄影术（CT）增强扫描或冠状动脉造影检查。结果：14例患者均有黄色瘤和（或）腱黄瘤，其中10例为纯合子，4例为杂合子。病变累及左主干10例、前降支8例、回旋支4例、右冠状动脉9例。超声心动图检查显示，14例患者中6例左心室壁普遍肥厚，6例左心室增大，4例左心室功能减低。所有患者主动脉均呈粥样硬化性改变，13例表现为主动脉根窦部管壁明显增厚、钙化斑块形成；7例患者主动脉瓣受累；10例主动脉瓣上狭窄；8例降主动脉和（或）腹主动脉管腔不规则、多发狭窄；1例表现为主动脉全程明显扩张，降主动脉、腹主动脉瘤及大量附壁血栓形成。1例患者行冠状动脉支架置入术，共5例患者行冠状动脉旁路移植术，2例行主动脉瓣上狭窄矫正术（其中1例患者同时行冠脉旁路移植手术）。结论：FH患者早发心血管系统受累，早期明确病变程度及特点为临床提供治疗依据，对预防心血管意外的发生有重要意义。Objective： To evaluate the clinical characteristics of cardiovascular involvement in patients with familial hypercholesterolemia （FH）. Methods： We retrospectively studied 14 FH patients for their clinical characteristics of cardiovascular involvement. The patients were treated in our hospital from 2002-01 to 2013-11 including 10 male and 4 female at the age of 8-39 （24.43±9.88） years. All patients receive echocardiography and 11 received coronary CTA examination. Results： The xanthoma and/or tendonxanthoma were found in all 14 patients including l0 of homozygous and 4 of heterozygous. The lesions involved in left main in 10 cases, anterior descending artery in 8 cases, left circumflex artery in 4 cases and right coronary artery in 9 cases. The echocardiography showed that there were 6 cases with left ventricular wall hypertrophy, 6 with left ventricular enlargement and 4 with left ventricular dysfunction. All patients had aortic atherosclerotic lesions including 13 cases of aortic root ministry of sinus wall thickening and calcified plaque formation, 7 with aortic valve involvement, 10 with supra valvular aortic stenosis, 8 with irregular lumen and multiple narrows of descending aorta and/or abdominal aorta, 1 with obvious aortic artery expansion, aneurysm in descending and abdominal aorta with a number of mural thrombus formation. 1 patient received coronary stent implantation, 5 received coronary artery bypass grafting （CABG）, 2 received supra valvular aortic stenosis diorthosis including 1 patient with simultaneous CABG. Conclusion： The early diagnosis and treatment for cardiovascular involvement in FH patients is important to prevent the cardiovascular events.

关 键 词：家族性高胆固醇血症 早发冠心病 主动脉瓣上狭窄 计算机断层摄影 

分 类 号：R54[医药卫生—心血管疾病]