Krause K J
Address: Lincoln Re, PO Box 7808, 1700 Magnavox Way, Fort Wayne, IN 46801-7808, USA.
J Insur Med. 2000;32(2):79-88.
Marfan syndrome is an autosomal dominant heritable disorder of fibrous connective tissue due to mutation in the fibrillin-1 gene, located on chromosome 15. Early mortality from Marfan syndrome results from aortic dilatation. The medical literature contains long-term follow-up series of patients with Marfan syndrome accrued at major medical centers that address overall survival following surgical intervention, and prognosis in relation to certain risk factors such as family history and aortic root diameter. Mortality analyses based on these data are presented in this paper. Advances in surgical and medical therapy have improved mortality of affected individuals over the past 2-3 decades. However, significant mortality occurs, peaking in the third and fourth decades of life. Although surgery is successful treatment of aortic dissection, one cannot conclude that surgical repair confers a mortality advantage. Emergency surgery and history of aortic complications in first-degree relatives are associated with a higher mortality. Chronic beta-blocker therapy may slow the rate of aortic dilatation and may be associated with more favorable prognosis. Clinical research evaluating beta-blockade, echo assessment of the aortic root diameter progression, and gene mutation analysis may provide tools useful for future morality assessments.
马凡综合征是一种常染色体显性遗传性纤维结缔组织疾病，由位于15号染色体上的原纤蛋白-1基因发生突变所致。马凡综合征导致的早期死亡是由主动脉扩张引起的。医学文献中有各大医疗中心积累的马凡综合征患者的长期随访系列，涉及手术干预后的总体生存率，以及与某些风险因素（如家族史和主动脉根部直径）相关的预后情况。本文基于这些数据进行了死亡率分析。在过去二三十年里，手术和药物治疗的进展提高了患者的生存率。然而，仍有显著的死亡率，在第三和第四个十年达到峰值。虽然手术是治疗主动脉夹层的成功方法，但不能得出手术修复能带来死亡率优势的结论。急诊手术和一级亲属有主动脉并发症史与较高的死亡率相关。长期使用β受体阻滞剂治疗可能会减缓主动脉扩张的速度，且可能与更有利的预后相关。评估β受体阻滞剂、主动脉根部直径进展的超声评估以及基因突变分析的临床研究，可能会为未来的死亡率评估提供有用的工具。
