von Kodolitsch Yskert, Rybczynski Meike, Detter Christian, Robinson Peter N
University Hospital Hamburg, Centre of Cardiology & Cardiovascular Surgery, Department of Cardiology/Angiology, University Hospital Hamburg-Eppendorf, Hamburg Martinistrasse 52, 20246 Hamburg, Germany.
Future Cardiol. 2008 Jan;4(1):85-96. doi: 10.2217/14796678.4.1.85.
Marfan syndrome is a disorder of the connective tissue that is inherited in an autosomal-dominant fashion and is caused by mutations in the gene coding for fibrillin-1, FBN1. Although complications of the syndrome may involve the eye, the lung and the skeleton, the high mortality of untreated cases results almost exclusively from cardiovascular complications, including aortic dissection and rupture. Recently, a series of experiments has begun to elucidate the complex molecular etiology of Marfan syndrome, and a number of new heritable syndromes with an associated risk for aortic complications, such as Loeys-Dietz syndrome types I and II, have been described. The multiorgan involvement of many of these syndromes requires multidisciplinary expert centers that can increase the average life expectancy of affected patients from only 32 years to over 60 years. The present article both reviews classical standards of managing cardiovascular manifestations and outlines significant advances in recent research with focus on their impact on future diagnostic and therapeutic options.
马凡综合征是一种以常染色体显性方式遗传的结缔组织疾病，由编码原纤蛋白-1（FBN1）的基因突变引起。尽管该综合征的并发症可能累及眼睛、肺部和骨骼，但未经治疗的病例死亡率很高，几乎完全是由心血管并发症导致的，包括主动脉夹层和破裂。最近，一系列实验开始阐明马凡综合征复杂的分子病因，并且已经描述了一些新的具有主动脉并发症相关风险的遗传性综合征，如I型和II型洛伊迪茨综合征。许多这些综合征的多器官受累需要多学科专家中心，这些中心可以将受影响患者的平均预期寿命从仅32岁提高到60岁以上。本文既回顾了管理心血管表现的经典标准，又概述了近期研究的重大进展，重点关注它们对未来诊断和治疗选择的影响。
