The Marfan syndrome and the cardiovascular surgeon
The Marfan syndrome and the cardiovascular surgeon
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DOI：
10.1016/s1010-7940(96)80289-2
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发表时间：
1996-03-01
影响因子：
3.4
通讯作者：
McKusick, VA
中科院分区：
文献类型：
--
作者：
Gott, VL;Laschinger, JC;McKusick, VA
作者介绍了马凡氏综合征心血管表现的外科治疗现状。此外，简要回顾了目前马凡氏遗传学的研究。对在约翰霍普金斯医院（1976年9月至1995年6月）接受主动脉根部置换术的所有马凡氏患者的数据进行了分析。计算生存和无事件曲线，并通过单变量和多变量分析确定早期和晚期死亡的风险因素。212例Marfan患者接受了主动脉根部置换术，采用复合移植物（202例）、同种移植物（8例）或保留瓣膜手术（2例）。185例患者接受了择期修复，无30天死亡率。27名患者接受了紧急手术，主要是急性夹层; 2名主动脉破裂患者在手术室死亡。212例患者的5年生存率为88%，10年生存率为78%，14年生存率为71%。通过多变量分析，只有差的NYHA分级、男性和紧急手术是早期或晚期死亡率的重要独立预测因素。组织学检查切除的马凡主动脉瓣叶的免疫荧光染色的弹性蛋白显示碎片相关的微纤维。这些研究提示在马凡氏病患者中谨慎使用保留瓣膜手术。在过去的5年中，在鉴定马凡氏病患者微纤维中编码缺陷性转录因子的突变基因方面取得了重大进展。目前正在尝试建立马凡氏病的动物模型，用于研究可能的基因治疗。马凡氏综合征患者可行主动脉根部置换术，手术风险低于5%。长期结果令人满意。目前，马凡氏病患者保留主动脉瓣叶的瓣膜保留手术应谨慎使用，因为保留的主动脉瓣叶中存在着瓣膜异常。
The authors present the current status of surgery for the cardiovascular manifestations of the Marfan syndrome. In addition, a brief review of current Marfan genetic research is presented. Data on all Marfan patients undergoing aortic root replacement at the Johns Hopkins Hospital (September 1976-June 1995) were analyzed. Survival and event-free curves were calculated and risk factors for early and late death were determined by univariate and multivariate analysis. Two hundred twelve Marfan patients underwent aortic root replacement using composite graft (202), homograft (8) or valve-sparing procedures (2). One hundred eighty-five patients underwent elective repair with no 30-day mortality. Twenty-seven patients underwent urgent surgery, primarily for acute dissection; two patients with aortic rupture died in the operating room. Actuarial survival of the 212 patients was 88% at 5 years, 78% at 10 years and 71% at 14 years. By multivariate analysis, only poor NYHA class, male gender and urgent surgery emerged as significant independent predictors of early or late mortality. Histologic examination of excised Marfan aortic leaflets by immunofluorescent staining for fibrillin showed fragmentation of elastin-associated microfibrils. These studies suggest cautious use of valve-sparing procedures in Marfan patients. Over the last 5 years significant progress has been made in identifying mutant genes that code for defective fibrillin microfibrils in Marfan patients. Attempts are underway to develop animal models of Marfan disease for study of possible gene therapy. Aortic root replacement can be performed in Marfan patients with operative risk under 5%. Long-term results are gratifying. At present, valve-sparing procedures should be used cautiously in Marfan patients because of fibrillin abnormalities in the preserved aortic valve leaflets.