家族性高胆固醇血症患者心血管系统病变临床特点的分析  

The clinical characteristics of cardiovascular involvement in patients with familial hypercholesterolemia

作　　者：武文峰[1] 温文慧 吴月[2] 杨娅[3] 王绿娅[1] WU Wenfeng;WEN Wenhui;WU Yue;YANG Ya;WANG Luya(Department of Atherosclerosis,Beijing Anzhen Hospital,Capital Medical University,Beijing Institute of Heart,Lung and Blood Vessel Diseases,Beijing 100029,China)

机构地区：[1]首都医科大学附属北京安贞医院-北京市心肺血管疾病研究所急诊科,100029 [2]首都医科大学附属北京安贞医院动脉粥样硬化研究室,100029 [3]首都医科大学附属北京安贞医院超声科,100029

出　　处：《心肺血管病杂志》2018年第7期635-638,共4页Journal of Cardiovascular and Pulmonary Diseases

基　　金：首都医科大学临床与基础合作项目(17JL43);北京安贞医院院长基金(2016Z09);2016安进进*阶研究基金

摘　　要：目的:评价家族性高胆固醇血症(FH)患者心血管系统病变的临床特点。方法:回顾性分析2014年8月至2017年10月,我院经临床和(或)基因诊断为FH的34例患者,其中男性20例,女性14例,年龄6~45岁,平均(21.23±14.67)岁。34例患者均行超声心动图检查,8例患者行冠状动脉CT或冠状动脉造影检查。结果:34例患者14例有黄色瘤和(或)腱黄瘤,其中10例为纯合子,24例为杂合子。病变累及左主干1例、前降支6例、回旋支4例、右冠状动脉4例。超声心动图检查显示,34例患者中11例有二尖瓣返流,其中9例轻度返流,2例中度返流,主动脉瓣轻度返流8例,4例左心室肥厚,5例左心室增大,3例左心室功能减低。核素心肌显像发现2例患者心肌缺血,16例患者冠状动脉血流储备CFVR<3.0。24例患者主动脉呈粥样硬化性改变,11例表现为主动脉根部管壁明显增厚、钙化斑块形成;9例患者主动脉瓣受累;10例主动脉瓣上狭窄;1例降主动脉管腔不规则、多发狭窄。1例患者行冠状动脉支架置入术,2例患者行冠状动脉旁路移植术。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）. Method ： We retrospectively studied 34 FH patients for their clinical characteristics of cardiovascular involvement. The patients were treated in our hospital from 2014-08 to 2017-10 including 20 males and 14 females at the age of 6-45（ 21. 23 ± 14. 67） years. All patients received echocardiography and 8 received coronary CTA examination. Result ： The xanthoma and/or tendonxanthoma were found in14 patients including 10 of homozygous and 4 of heterozygous. The lesions involved in left main in 1 case,anterior descending artery in 6 cases,left circumflex artery in 4 cases and right coronary artery in 4 cases. The echocardiography showed that there were 4 cases with left ventricular wall hypertrophy,5 with left ventricular enlargement and 3 with left ventricular dysfunction. Aortic regurgitation were found in 8 cases,mitral regurgitation in 11 cases,including 9 mild and 2 moderate regurgitation. There were 16 cases with CFVR 〈 3. 0. 24 patients had aortic atherosclerotic lesions including 11 cases of aortic root ministry of sinus wall thickening and calcified plaque formation,9 with aortic valve involvement,10 with supravalvular aortic stenosis,1 with irregular lumen and multiple narrows of descending aorta. 1 patient received coronary stent implantation,2 received coronary artery bypass grafting（ CABG）. Conclusion： The early diagnosis and treatment for cardiovascular involvement in FH patients are important to prevent the cardiovascular events.

关 键 词：家族性高胆固醇血症 早发冠心病 心血管病变 

分 类 号：R54[医药卫生—心血管疾病]