Iskandar Zaid, Mordi Ify, Lang Chim C, Huang Jeffrey T J, Choy Anna-Maria
From the Department of Molecular & Clinical Medicine, Ninewells Hospital & Medical School, University of Dundee, Dundee DD1 9SY, UK.
Biomarker and Drug Analysis Core Facility, Medical Research Institute, Ninewells Hospital & Medical School, University of Dundee, Dundee, DD1 9SY, UK.
Cardiol Rev. 2020 Mar/Apr;28(2):92-97. doi: 10.1097/CRD.0000000000000289.
Marfan Syndrome (MFS) is an autosomal dominant, genetically inherited connective tissue disorder which primarily affects the cardiovascular system, but can also have systemic manifestations. First described in 1896, MFS has a prevalence of around 1/5000 in the general population. It is becoming increasingly common to see patients with MFS in a clinical setting due to the improved care of patients with adult congenital heart disease and general improvement in survival. Mortality, however, remains high largely due to the risk of aortic dissection as a result of the aortic root dilatation frequently seen in these patients. Contemporary management has therefore been focused on imaging-based surveillance to prevent these catastrophic events and intervene surgically in a timely manner. However, it is increasingly recognized that some patients do suffer aortic dissection below the expected threshold for surgical intervention. With this in mind, there has been interest in the role of biomarkers as an adjunct to imaging in the care of these patients. This article will provide an overview of the literature on potential biomarkers studied so far in MFS, as well as potential future directions.
马凡综合征（MFS）是一种常染色体显性遗传的结缔组织疾病，主要影响心血管系统，但也会有全身表现。MFS于1896年首次被描述，在普通人群中的患病率约为1/5000。由于成人先天性心脏病患者的护理水平提高以及总体生存率的改善，在临床环境中见到MFS患者越来越常见。然而，由于这些患者中常见的主动脉根部扩张导致主动脉夹层的风险，死亡率仍然很高。因此，当代治疗主要集中在基于影像学的监测上，以预防这些灾难性事件并及时进行手术干预。然而，越来越多的人认识到，一些患者在低于手术干预预期阈值时就会发生主动脉夹层。考虑到这一点，人们对生物标志物作为这些患者护理中影像学辅助手段的作用产生了兴趣。本文将概述迄今为止在MFS中研究的潜在生物标志物的文献以及潜在的未来方向。
