Bons Lidia R, Van Den Hoven Allard T, Malik Maira, Van Den Bosch Annemien E, McGhie Jacky S, Duijnhouwer Anthonie L, Siebelink Hans-Marc J, Hirsch Alexander, Devos Daniel H, Rietzschel Ernst, von der Thüsen Jan H, van de Laar Ingrid M B H, Verhagen Judith M A, van der Pluijm Ingrid, Budde Ricardo P J, Roos-Hesselink Jolien W
Department of Cardiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Department of Radiology and Nuclear Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Aorta (Stamford). 2020 Oct;8(5):121-131. doi: 10.1055/s-0040-1714384. Epub 2020 Dec 23.
Turner syndrome (TS) is associated with aortic dilatation and dissection, but the underlying process is unclear. The aim of this study was to investigate the elastic properties and composition of the aortic wall in women with TS.
In this cross-sectional study, 52 women with TS aged 35 ± 13 years (50% monosomy, 12 with bicuspid aortic valve [BAV] and 4 with coarctation) were investigated using carotid-femoral pulse wave velocity (CF-PWV) by echocardiography and ascending aortic distensibility (AAD) and aortic arch pulse wave velocity (AA-PWV) by magnetic resonance imaging (MRI). As control group, 13 women with BAV without TS and 48 healthy patients were included.
Women with TS showed a higher AA-PWV (β = 1.08, confidence interval [CI]: 0.54-1.62) after correcting for age and comorbidities compared with controls. We found no significant difference in AAD and CF-PWV. In women with TS, the presence of BAV, coarctation of the aorta, or monosomy (45, X) was not associated with aortic stiffness. In addition, aortic tissue samples were investigated with routine and immunohistochemical stains in five additional women with TS who were operated. The tissue showed more compact smooth muscle cell layers with abnormal deposition and structure of elastin and diminished or absent expression of contractile proteins desmin, actin, and caldesmon, as well as the progesterone receptor.
Both aortic arch stiffness measurements on MRI and histomorphological changes point toward an inherent abnormal thoracic aortic wall in women with TS.
特纳综合征（TS）与主动脉扩张和夹层形成有关，但其潜在机制尚不清楚。本研究旨在调查TS女性患者主动脉壁的弹性特性和组成。
在这项横断面研究中，对52例年龄为35±13岁的TS女性患者（50%为单体型，12例合并二叶式主动脉瓣[BAV]，4例合并主动脉缩窄）进行了研究，通过超声心动图测量颈股脉搏波速度（CF-PWV），通过磁共振成像（MRI）测量升主动脉扩张性（AAD）和主动脉弓脉搏波速度（AA-PWV）。作为对照组，纳入了13例无TS的BAV女性患者和48例健康受试者。
校正年龄和合并症后，TS女性患者的AA-PWV高于对照组（β=1.08，置信区间[CI]：0.54-1.62）。我们发现AAD和CF-PWV无显著差异。在TS女性患者中，BAV、主动脉缩窄或单体型（45,X）的存在与主动脉僵硬度无关。此外，对另外5例接受手术的TS女性患者的主动脉组织样本进行了常规和免疫组织化学染色检查。组织显示平滑肌细胞层更致密，弹性蛋白沉积和结构异常，收缩蛋白结蛋白、肌动蛋白和钙调蛋白以及孕激素受体的表达减少或缺失。
MRI测量的主动脉弓僵硬度和组织形态学变化均表明TS女性患者存在先天性胸主动脉壁异常。
