Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Genet Med. 2019 Aug;21(8):1683-1690. doi: 10.1038/s41436-018-0399-4. Epub 2018 Dec 21.
Life expectancy for a person with Marfan syndrome has essentially doubled over the past four decades. During this period, the clinical histories of the organs managed routinely have improved, and will continue to be. Prominent examples are the eyes, the heart and aorta, and some features of the skeletal system. Meanwhile, the natural histories of organ systems that have not been subjected to treatment need to be described. This is particularly important as due to the improved life span many symptoms and organ systems are only recently being recognized as being intrinsic to Marfan syndrome. Examples are the distal aorta and peripheral arteries, ventricular function, the central nervous system, sleep apnea, and adiposity. As a result, each person with Marfan syndrome will need to be evaluated and followed by more specialists than previously. Moreover, the coordinator of diagnostic testing and clinical referral must be aware of the expanded phenotype as people with Marfan syndrome age and the importance of life-long management of classical and novel features. The benefits of increased longevity and its consequences need to be addressed by investigators, health-care providers, and patients alike.
马凡综合征患者的预期寿命在过去四十年中基本翻了一番。在此期间，常规管理的器官的临床病史得到了改善，并且还将继续改善。突出的例子是眼睛、心脏和主动脉，以及骨骼系统的一些特征。同时，还需要描述未接受治疗的器官系统的自然病史。这一点尤为重要，因为由于寿命的延长，许多症状和器官系统最近才被认为是马凡综合征的固有特征。例如远端主动脉和外周动脉、心室功能、中枢神经系统、睡眠呼吸暂停和肥胖症。因此，每个马凡综合征患者都需要接受比以前更多的专家评估和随访。此外，诊断测试和临床转诊的协调员必须了解随着马凡综合征患者年龄的增长而扩大的表型，以及终身管理经典和新型特征的重要性。研究人员、医疗保健提供者和患者都需要解决寿命延长的好处及其后果。
