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家族性高胆固醇血症累及心血管系统的临床特点分析 被引量:17

The Clinical Characteristics of Cardiovascular Involvement in Patients With Familial Hypercholesterolemia
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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.
出处 《中国循环杂志》 CSCD 北大核心 2014年第5期327-330,共4页 Chinese Circulation Journal
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 Familial hypercholesterolemia Premature coronary disease Supra valvular aortic stenosis Computedtomography
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参考文献9

  • 1李治安,杨娅,勇强,蔺洁,王绿娅.家族性高胆固醇血症的心血管超声研究[J].中国超声医学杂志,2007,23(11):839-843. 被引量:6
  • 2Goldstein JL, Brown MS. Molecular medicine Science, 2001, 292:1310-1312.
  • 3Marks D, Thorogood M, Nell HA, ct al. A review on the diagnosis, natural history, and treatment of familial hyI)ercholesterolaemia. Atherosclerosis, 2003, 168: 1-14.
  • 4Kim YR, Han KH. Familial hypereholesterolemia and lhe atherosclerotic disease. Korean Circ J, 2013, 43: 363-367.
  • 5Williams RR, Hunt SC, Schumacher MC, et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol, 1993, 72: 171-176.
  • 6陈在嘉.谈医学生涯中部分难忘的病例(十七)[J].中国循环杂志,2012,27(3):232-233. 被引量:1
  • 7Deseamps OS, Gilbeau JP, Leysen X, et al. lmpal genelic defects en atheroselerosis in patients suspected of familial hypereholesterolemia. Enr J Clin Invest, 2001, 31: 958-965.
  • 8马展鸿,曾建华,李世国,周建伟,戴汝平.家族性高胆固醇血症的影像学诊断[J].中华放射学杂志,2004,38(4):435-437. 被引量:8
  • 9Harada-Shiba M, Arai H, Oikawa S, et al. Guidelines for the management of familial hypereholesterolemia. J Atberoscler Tbromb, 2012, 19: 1043-1060.

二级参考文献21

  • 1勇强,孙慧,李治安,蔺洁,王绿娅.家族性高胆固醇血症的腹腔外周动脉血管病理改变[J].中华心血管病杂志,2005,33(4):340-342. 被引量:5
  • 2张庆 唐红 黄鹤.主动脉瓣上狭窄1例报告[J].中华超声影像学杂志,1999,8:319-319.
  • 3陈在嘉,徐义枢,孔华宇.临床冠心病学.北京:人民军医出版社,1998.77.
  • 4Daniel J,Cohen RJ,Hobbs HH,et al.Monogenic hypercholesterolemia:new insights in pathogenesis and treatment.J Clin Invest,2003,111(12):1795-1803.
  • 5Goldstein JL,Brown MS.Molecular medicine:The cholesterol quartet.Science,2001,292:1310-1312.
  • 6Vergopoulos A,Knoblauch H,Schuster H,et al.DNA testing for familial hypercholesterolemia:improving disease recognition and patient care.Am J Pharmacogenomics,2002,2(4):253-262.
  • 7Smilde TJ,Wissen S,Wollersheim H,et al.Genetic and metabolic factors predicting risk of cardiovascular disease in familial hypercholesterolemia.Netherlands J Med,2001,59 (4):184-195.
  • 8Descamps OS,Gilbeau JP,Leysen X,et al.Impact of genetic defects on atherosclerosis in patients suspected of familial hypercholesterolemia.Eur J Clin Invest,2001,31 (11):958-965.
  • 9Taira K,Bujo H,Kobayashi J,et al.Positive family history for coronary heart disease and 'midband lipoproteins'are potential risk factors of carotid atherosclerosis in familial hypercholesterolemia.Atherosclerosis,2002,160(2):391-3977.
  • 10Horiguchi Y,Yamamoto A,Kamiya T,et al.Cardiovascular findings in familial hypercholesterolemic children.Jpn Circ J,1991,21 (55):142-148.

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