家族性高胆固醇血症患者的临床表现和超声心动图特征  

The clinical features and echocardiographic characteristics in patients with familial hypercholesterolemia

作　　者：杨娅[1] 李治安[1] 张小杉[1] 谢谨捷[1] 蔺洁[2] 王绿娅[2] 任红艳[1] 

机构地区：[1]首都医科大学附属北京安贞医院超声诊断科,100029 [2]北京市心肺血管疾病研究所动脉粥样硬化研究室

出　　处：《中华医学超声杂志（电子版）》2009年第3期25-27,共3页Chinese Journal of Medical Ultrasound(Electronic Edition)

基　　金：北京市自然科学基金(NO7032012;7042023;7092016和7062010);国家自然科学基金(NO30771986和30772356);北京市科技新星项目(NO2004B27和2005A29);北京市新世纪百千万人才工程培养经费联合资助

摘　　要：目的分析家族性高胆固醇血症(FH)患者的临床表现和超声心动图特征。方法经我院动脉粥样硬化研究室确诊的FH患者41例,女23例,男18例,年龄3～62岁,平均(19.94±14.87)岁。另选取健康人39例作为对照组。采用彩色多普勒超声仪观察两组受检查心脏、瓣膜、主动脉的形态结构和功能。结果FH患者血清总胆固醇为(13.24±4.36)mmol/L,低密度脂蛋白胆固醇为(10.57±4.41)mmol/L。35例患者皮肤出现黄色瘤,33例为首发症状。二尖瓣反流19例,主动脉瓣反流13例,主动脉瓣钙化6例,主动脉瓣狭窄3例,主动脉根部狭窄8例。FH患者心脏收缩和舒张功能基本正常。结论FH以高胆固醇血症、特征性黄色瘤、早发的心血管疾病和阳性家族史为主要临床表现。超声心动图检查有瓣膜反流、主动脉口狭窄等表现,能为FH患者动脉粥样硬化的形态和功能变化提供重要依据。Objective To analyze clinical features and echocardiographic characteristics in patients with familial hypercholesterolemia （FH）. Methods A total of forty-one cases of patients with FH （23 of females,18 of males; mean age 19.94 ±14.87 years, age range 3-62 years） were diagnosed by the Atherosclerosis Research Center. The structures and functions of the heart, valves and aorta were observed using color Doppler ultrasound. Results The serum total cholesterol was 13.24 ±4.36 mmol/L in 41 cases of patients with FH and low-density lipoprotein cholesterol was 10.57 ±4.41 mmol/L. The multiple cutaneous xanthomas were found in 35 cases, 33 cases of all were primary symptoms. The systolic and diastolic func- tions were normal in patients with FH. The mitral regurgitation was observed in 19 cases, aortic regurgitation in 13 eases, aortic valve calcification in 6 cases, aortic stenosis in 3 cases, and aortic root stenosis in 8 cases. Conclusions The clinical features in patients with FH include hypereholesterolemia, characteristic cutaneous xanthomas, premature cardiovascular disease wth family history. Eehocardiography mainly appears as valve regurgitation and aortic stenosis, which can provide important basis for the patients with FH with the changes of structures and functions of atherosclerosis.

关 键 词：家族性高胆固醇血症 超声心动描记术 患者 临床分析 

分 类 号：R589.2[医药卫生—内分泌] R540.45[医药卫生—内科学]