结缔组织疾病与心血管并发症：转化生长因子-β 信号的不屈角色。
Connective Tissue Disorders and Cardiovascular Complications: The Indomitable Role of Transforming Growth Factor-β Signaling.
机构信息
Division of Cardiology, Cleveland Clinic, Cleveland, OH, USA.
Division of Cardiothoracic Surgery, University of North Carolina, Chapel Hill, NC, USA.
出版信息
Adv Exp Med Biol. 2021;1348:161-184. doi: 10.1007/978-3-030-80614-9_7.
Marfan Syndrome (MFS) and Loeys-Dietz Syndrome (LDS) represent heritable connective tissue disorders that segregate with a similar pattern of cardiovascular defects (thoracic aortic aneurysm, mitral valve prolapse/regurgitation, and aortic dilatation with regurgitation). This pattern of cardiovascular defects appears to be expressed along a spectrum of severity in many heritable connective tissue disorders and raises suspicion of a relationship between the normal development of connective tissues and the cardiovascular system. With overwhelming evidence of the involvement of aberrant Transforming Growth Factor-beta (TGF-β) signaling in MFS and LDS, this signaling pathway may represent the common link in the relationship between connective tissue disorders and their associated cardiovascular complications. To further explore this hypothetical link, this chapter will review the TGF-β signaling pathway, the heritable connective tissue syndromes related to aberrant TGF-β signaling, and will discuss the pathogenic contribution of TGF-β to these syndromes with a primary focus on the cardiovascular system.
马凡综合征（MFS）和洛伊茨-迪茨综合征（LDS）是遗传性结缔组织疾病，具有相似的心血管缺陷（胸主动脉瘤、二尖瓣脱垂/反流和主动脉扩张伴反流）遗传模式。这种心血管缺陷模式似乎在许多遗传性结缔组织疾病中沿着严重程度的谱表达，并提示结缔组织和心血管系统的正常发育之间存在关系。鉴于 TGF-β（转化生长因子-β）信号异常在 MFS 和 LDS 中的作用证据确凿，这种信号通路可能代表结缔组织疾病及其相关心血管并发症之间关系的共同联系。为了进一步探讨这一假设的联系，本章将回顾 TGF-β信号通路、与异常 TGF-β信号相关的遗传性结缔组织综合征，并讨论 TGF-β对这些综合征的发病贡献，主要集中在心血管系统。
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