Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in the FBN1 gene, which encodes fibrillin-1, a protein essential for the formation and stabilization of elastic fibers as well as signaling homeostasis. Progressive aortic root widening is the most serious manifestation of MFS as it can lead to aortic dissection, aneurysm formation and rupture. However, despite their ability to decrease the hemodynamic stress the aorta is subjected to, anti-hypertensive medications often lead to underwhelming reductions in the rate of aortic root dilation, which illustrates how fragmental our understanding of MFS-associated aortic remodeling is. This manuscript summarizes recent evidence that document nitric oxide (NO) synthase (NOS)-related changes to the vasculature during the pathogenesis of MFS and how they result in a unique state of vascular dysfunction that likely plays a causal role in the aortic root widening process. We also review how clinic-approved and experimental therapies as well lifestyle approaches may promote aortic root stability by correcting NO homeostasis, which if properly optimized may improve outcomes in this population afflicted by a notoriously refractory type of aortopathy.

马凡综合征 (MFS) 是一种由FBN1突变引起的结缔组织疾病基因，它编码原纤维蛋白-1，这是一种对弹性纤维的形成和稳定以及信号稳态至关重要的蛋白质。进行性主动脉根部增宽是 MFS 最严重的表现，因为它可导致主动脉夹层、动脉瘤形成和破裂。然而，尽管它们能够降低主动脉承受的血流动力学压力，但抗高血压药物通常会导致主动脉根部扩张率的显着降低，这说明了我们对 MFS 相关主动脉重塑的理解是多么零碎。这份手稿总结了最近的证据，证明在 MFS 发病过程中与一氧化氮 (NO) 合酶 (NOS) 相关的脉管系统变化以及它们如何导致独特的血管功能障碍状态，这可能在主动脉根部扩大过程中起因果作用. 我们还回顾了临床批准和实验疗法以及生活方式方法如何通过纠正 NO 稳态来促进主动脉根部的稳定性，如果适当优化，可能会改善这一众所周知的难治型主动脉病患者的预后。