Cattedra di Cardiologia, Dipartimento di Medicina Sperimentale e Applicata, Università di Brescia, Italy.
Heart. 2012 Sep;98(18):1354-8. doi: 10.1136/heartjnl-2012-302144. Epub 2012 Jul 31.
α1-Antitrypsin deficiency (AATD) is a genetic disorder that may be a pathogenic factor in vascular aneurysms and dissection. The aim of this study was to measure the diameters of the Valsalva sinuses (VS), sinotubular junction (STJ), ascending aorta (AA) and aortic arch (AAr) and elastic properties of the AA (distensibility, stiffness and tissue Doppler imaging (TDI strain)) in AATD subjects.
33 AATD subjects (all Z-homozygous, 17 male, 16 female) were examined. Aortic elastic properties, namely, distensibility and stiffness index, were calculated from the echocardiographically-derived thoracic aortic diameters and TDI strain was measured on the wall of the AA 3 cm above the aortic valve. The results were compared with those obtained in healthy controls matched for age, sex and body mass index.
AATD subjects had larger aortic diameters (VS: 3.5 ± 0.5 vs 3.2 ± 0.5 cm, p<0.05; STJ 2.7 ± 0.4 vs 2.4 ± 0.4 cm, p<0.01; AA 3.3 ± 0.5 vs 2.9 ± 0.4 cm, p<0.01; AAr 2.3 ± 0.3 vs 2.1 ± 0.3 cm, p=0.05); greater aortic stiffness 14.9 ± 11.9 versus 7.4 ± 4.4 (pure numbers, p<0.005); and less aortic distensibility 2.4 ± 1.8 versus 4.0 ± 2.6 10(-6)×cm(2)×dyne(-1), p<0.005. Peak systolic (S) and diastolic (E and A) waves of the aortic wall TDI were similar in patients and controls (S wave: 5.4 ± 1.6 vs 5.9 ± 2.3 cm/s; E wave: -4.8 ± 2.2 vs -4.5 ± 2.2 cm/s; A wave: -6.1 ± 2.2 vs -6.2 ± 2.4 cm/s) while TDI strain of the aortic wall was lesser in patients than controls (-14.7 ± 8.0% vs -28.3 ± 7.1%, p<0.001).
AATD subjects have a larger AA with abnormal elastic properties as compared to controls. The increase in stiffness, decrease in distensibility and abnormal strain of the aortic wall may all reflect pathological changes in its elastic tissue.
α1-抗胰蛋白酶缺乏症（AATD）是一种遗传性疾病，可能是血管动脉瘤和夹层的致病因素。本研究的目的是测量 AATD 患者的瓦尔萨尔瓦窦（VS）、窦管交界（STJ）、升主动脉（AA）和主动脉弓（AAr）的直径以及 AA 的弹性特性（可扩张性、僵硬度和组织多普勒成像（TDI 应变））。
检查了 33 名 AATD 患者（均为 Z 纯合子，男 17 名，女 16 名）。从超声心动图获得的胸主动脉直径计算出主动脉的弹性特性，即可扩张性和僵硬度指数，并且在主动脉瓣上方 3cm 的 AA 壁上测量 TDI 应变。结果与年龄、性别和体重指数匹配的健康对照组进行比较。
AATD 患者的主动脉直径较大（VS：3.5 ± 0.5 与 3.2 ± 0.5cm，p<0.05；STJ：2.7 ± 0.4 与 2.4 ± 0.4cm，p<0.01；AA：3.3 ± 0.5 与 2.9 ± 0.4cm，p<0.01；AAr：2.3 ± 0.3 与 2.1 ± 0.3cm，p=0.05）；主动脉僵硬度较大 14.9 ± 11.9 与 7.4 ± 4.4（纯数字，p<0.005）；主动脉可扩张性较小 2.4 ± 1.8 与 4.0 ± 2.6 10(-6)×cm(2)×dyne(-1)，p<0.005。主动脉壁 TDI 的收缩期（S）和舒张期（E 和 A）波在患者和对照组中相似（S 波：5.4 ± 1.6 与 5.9 ± 2.3cm/s；E 波：-4.8 ± 2.2 与-4.5 ± 2.2cm/s；A 波：-6.1 ± 2.2 与-6.2 ± 2.4cm/s），而主动脉壁 TDI 应变则小于对照组（-14.7 ± 8.0%与-28.3 ± 7.1%，p<0.001）。
与对照组相比，AATD 患者的 AA 较大，弹性特性异常。僵硬度增加、可扩张性降低和主动脉壁应变异常可能都反映了其弹性组织的病理性变化。
