Ryan Thomas D, Parent John J, Gao Zhiqian, Khoury Philip R, Dupont Elizabeth, Smith Jennifer N, Wong Brenda, Urbina Elaine M, Jefferies John L
Heart Institute, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave, MLC 2003, Cincinnati, OH, 45220, USA.
Division of Pediatric Cardiology, Riley Hospital for Children, Indianapolis, IN, USA.
Pediatr Cardiol. 2017 Aug;38(6):1269-1276. doi: 10.1007/s00246-017-1657-y. Epub 2017 Jun 21.
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutation of dystrophin. Cardiovascular involvement includes dilated cardiomyopathy. Non-invasive assessment of vascular function has not been evaluated in DMD. We hypothesize arterial wave reflection is abnormal in patients with DMD. Pulse wave analysis was performed on DMD patients with a SphygmoCor SCOR-PVx System to determine central blood pressure and augmentation index (AIx) as an assessment of arterial wave reflection. Results were compared to a control group. A total of 43 patients with DMD were enrolled, and compared to 43 normal controls. Central systolic blood pressure was lower, while both AIx-75 (7.8 ± 9.6% vs. 2.1 ± 10.4%, p 0.01, DMD vs. normal) and AIx-not corrected (16.8 ± 10.1% vs. -3.6 ± 10.9, p < 0.001, DMD vs. normal) were higher in the DMD compared to control. Using multivariable linear regression model, the variables found to have a significant effect on AIx-not corrected included diagnosis of DMD, height, and heart rate (r = 0.257). The current data suggest that, despite lower central systolic blood pressure, patients with DMD have higher wave reflection when compared to normal controls, which may represent increased arterial stiffness. Overall there appears to be no effect on ventricular systolic function, however the long-term consequence in this group is unknown. Further study is required to determine the mechanism of these differences, which may be related to the effects of systemic steroids or the role of dystrophin in vascular function.
杜氏肌营养不良症（DMD）是一种由肌营养不良蛋白突变引起的X连锁隐性疾病。心血管受累包括扩张型心肌病。DMD患者尚未进行血管功能的非侵入性评估。我们假设DMD患者的动脉波反射异常。使用SphygmoCor SCOR-PVx系统对DMD患者进行脉搏波分析，以确定中心血压和增强指数（AIx），作为动脉波反射的评估指标。将结果与对照组进行比较。共纳入43例DMD患者，并与43名正常对照进行比较。DMD组的中心收缩压较低，而AIx-75（7.8±9.6%对2.1±10.4%，p<0.01，DMD组对正常组）和未校正的AIx（16.8±10.1%对-3.6±10.9，p<0.001，DMD组对正常组）均高于对照组。使用多变量线性回归模型，发现对未校正的AIx有显著影响的变量包括DMD诊断、身高和心率（r=0.257）。目前的数据表明，尽管中心收缩压较低，但与正常对照组相比，DMD患者的波反射更高，这可能代表动脉僵硬度增加。总体而言，似乎对心室收缩功能没有影响，然而该组的长期后果尚不清楚。需要进一步研究以确定这些差异的机制，这可能与全身类固醇的作用或肌营养不良蛋白在血管功能中的作用有关。
