Section of Cardiology, Department of Clinical and Experimental Medicine, University of Messina, Azienda Ospedaliera Universitaria 'Policlinico G. Martino' and Universita' degli Studi di Messina, Via Consolare Valeria n.12, 98100 Messina, Italy.
Section of Pharmacology, Department of Clinical and Experimental Medicine, University of Messina, Azienda Ospedaliera Universitaria 'Policlinico G. Martino' and Universita' degli Studi di Messina, Via Consolare Valeria n.12, 98100 Messina, Italy.
Eur Heart J Cardiovasc Imaging. 2018 Aug 1;19(8):879-887. doi: 10.1093/ehjci/jex224.
Bicuspid aortic valve (BAV) is associated with aortic wall alterations. We aimed to detect any correlation between aortic elasticity and genetic and biomolecular patterns of elastin.
Forty-nine BAV patients (mean age: 38 ± 17.05) were prospectively enrolled. A blood sample was drawn for analysis of a single nucleotide polymorphism of elastin gene (ELN rs2071307) responsible for misfolding of elastin, and for the amount of elastin soluble fragments (ESF) in the plasma. Aortic dimensions and elastic properties were determined by echocardiography, aortic stiffness (AS) by M-mode analysis, and longitudinal strain (LS) of the ascending aorta (AA) by speckle-tracking echocardiography; values of aortic strain were compared with 45 age-matched subjects (mean age: 33 ± 9.67) with tricuspid aortic valve (TAV). BAV patients had greater aortic dimensions [Valsalva sinus (P = 0.004), sinotubular junction (P = 0.013), AA (P < 0.001)] and stiffness (P = 0.002) but lower LS (P = 0.04) than those with TAV. Results from comparisons of mutated genotype patients (AA, n = 10) with heterozygous (GA, n = 21) and wild-types ones (GG, n = 16) revealed that the presence of mutation was associated with increased ESF (P = 0.010 GG vs. GA; P = 0.035 GA vs. AA), larger AA (P = 0.019 GG vs. GA; P = 0.001 GG vs. AA), and lower LS (P = 0.032 GG vs. AA). Patients with a dilated AA showed greater ESF (P < 0.001), greater AS (P = 0.007), and lower LS of the AA (P = 0.002) than those with a normal AA. The same parameters were not significantly different comparing patients with moderate or severe aortic valve disease and patients with less than moderate valve disease.
Our results show a close correlation between genetic and biomolecular patterns of elastin and mechanical properties of the aorta in patients with BAV.
二叶式主动脉瓣（BAV）与主动脉壁改变有关。我们旨在检测主动脉弹性与弹性蛋白的遗传和生物分子模式之间的任何相关性。
前瞻性纳入 49 名 BAV 患者（平均年龄：38±17.05 岁）。采集血样分析弹性蛋白基因（ELN rs2071307）的单核苷酸多态性，该基因负责弹性蛋白的错误折叠，以及血浆中弹性蛋白可溶性片段（ESF）的含量。通过超声心动图确定主动脉尺寸和弹性特性，通过 M 模式分析确定主动脉僵硬度（AS），通过斑点追踪超声心动图确定升主动脉（AA）的纵向应变（LS）；将主动脉应变值与 45 名年龄匹配的三叶式主动脉瓣（TAV）患者（平均年龄：33±9.67 岁）进行比较。BAV 患者的主动脉尺寸更大[Valsalva 窦（P=0.004），窦管交界（P=0.013），AA（P<0.001）]和僵硬度（P=0.002），但 LS 较低（P=0.04）比 TAV 患者。比较突变基因型患者（AA，n=10）与杂合子（GA，n=21）和野生型患者（GG，n=16）的结果表明，突变的存在与 ESF 增加相关（P=0.010 GG 与 GA；P=0.035 GA 与 AA），AA 更大（P=0.019 GG 与 GA；P=0.001 GG 与 AA），LS 更低（P=0.032 GG 与 AA）。AA 扩张的患者 ESF 更高（P<0.001），AS 更大（P=0.007），AA 的 LS 更低（P=0.002）比 AA 正常的患者。比较中重度主动脉瓣疾病患者和轻中度主动脉瓣疾病患者时，这些参数没有显著差异。
我们的结果表明，BAV 患者的主动脉弹性的遗传和生物分子模式与机械性能密切相关。
