Division of Cardiology, Department of Pediatrics, Heart Institute, Children's Hospital Colorado, University of Colorado Denver, Anschutz Medical Campus, Aurora, CO, USA.
Department of Radiology, Children's Hospital Colorado, University of Colorado Denver, Anschutz Medical Campus, Aurora, CO, USA.
Eur J Cardiothorac Surg. 2018 Nov 1;54(5):926-932. doi: 10.1093/ejcts/ezy168.
Turner syndrome (TS) and Marfan syndrome (MFS) are partially characterized by aortopathies with a risk of developing severe aortic dilation, stiffness and consequent dissection and aneurysm formation. The incidence of a bicuspid aortic valve (BAV) is also increased in TS. We investigated aortic stiffness in teenage TS and MFS patients and evaluated to what degree stiffness in TS patients is augmented by the presence of a BAV.
Fifty-seven patients with TS (n = 37) and MFS (n = 20), as well as 22 controls with similar age and size distribution underwent evaluation of thoracic aortic stiffness using phase-contrast magnetic resonance imaging. Calculated stiffness indices including pulse wave velocity (PWV), distensibility and relative area change (RAC) were collected to characterize the ascending aorta and descending aorta. PWV was also determined to evaluate global aortic arch stiffness.
Patients with TS had reduced distensibility (0.43 vs 0.58%/mmHg, P < 0.05) and RAC (21 vs 29%, P < 0.01) in the ascending aorta when compared with normal controls. Similarly, patients with MFS had reduced ascending aortic distensibility (0.39 vs 0.58%/mmHg, P < 0.05) and RAC (22 vs 29%, P < 0.05). There were no differences in measured PWV in the ascending aorta. Patients with TS had significantly elevated PWV measured in the aortic arch when compared with controls (2.7 vs 1.9 m/s, P < 0.05). Patients with MFS had more prominent elevation in aortic arch PWV (4.2 vs 1.9 m/s, P < 0.01). The descending aortas had decreased distensibility (0.36 vs 0.55%/mmHg, P < 0.05) and RAC (18 vs 25%, P < 0.01) only in MFS patients. Additionally, 18 TS patients with a BAV were compared with 19 TS patients with a trileaflet aortic valve, without significant differences observed in any of the considered stiffness indices.
TS and MFS teenage patients display evidence of increased aortic stiffness. In TS patients, this is focused in the ascending aorta and is independent of the presence of a BAV. MFS patients display a generalized reduction in compliance of the entire aorta.
特纳综合征（TS）和马凡综合征（MFS）的部分特征为主动脉病变，存在发生严重主动脉扩张、僵硬以及随后的夹层和动脉瘤形成的风险。TS 患者中也存在二叶式主动脉瓣（BAV）的发病率增加。我们研究了青少年 TS 和 MFS 患者的主动脉僵硬程度，并评估了 TS 患者的僵硬程度在多大程度上因 BAV 的存在而增加。
57 名 TS 患者（n=37）和 MFS 患者（n=20）以及 22 名年龄和体型分布相似的对照组患者接受了相位对比磁共振成像评估胸主动脉僵硬程度。收集计算得出的僵硬指数，包括脉搏波速度（PWV）、扩张性和相对面积变化（RAC），以描述升主动脉和降主动脉。还测定了 PWV，以评估整个主动脉弓的僵硬程度。
与正常对照组相比，TS 患者的升主动脉扩张性（0.43%/mmHg 比 0.58%/mmHg，P<0.05）和 RAC（21%比 29%，P<0.01）降低。同样，MFS 患者的升主动脉扩张性（0.39%/mmHg 比 0.58%/mmHg，P<0.05）和 RAC（22%比 29%，P<0.05）降低。升主动脉的 PWV 无差异。与对照组相比，TS 患者的主动脉弓 PWV 显著升高（2.7 m/s 比 1.9 m/s，P<0.05）。MFS 患者的主动脉弓 PWV 升高更为显著（4.2 m/s 比 1.9 m/s，P<0.01）。仅在 MFS 患者的降主动脉中，PWV（0.36%/mmHg 比 0.55%/mmHg，P<0.05）和 RAC（18%比 25%，P<0.01）降低。此外，将 18 名患有 BAV 的 TS 患者与 19 名患有三叶式主动脉瓣的 TS 患者进行比较，在任何考虑的僵硬指数中均未观察到差异。
TS 和 MFS 青少年患者显示出主动脉僵硬程度增加的证据。在 TS 患者中，这种情况集中在升主动脉，且与 BAV 的存在无关。MFS 患者的整个主动脉顺应性普遍降低。
