Celeng Csilla, Kolossváry Márton, Kovács Attila, Molnár Andrea Ágnes, Szilveszter Bálint, Horváth Tamás, Károlyi Mihály, Jermendy Ádám L, Tárnoki Ádám D, Tárnoki Dávid L, Karády Júlia, Voros Szilard, Jermendy György, Merkely Béla, Maurovich-Horvat Pál
MTA-SE Cardiovascular Imaging Research Group, Heart and Vascular Center, Semmelweis University, Városmajor St. 68, H-1122, Budapest, Hungary.
Department of Hydrodynamic Systems, Budapest University of Technology and Economics, Budapest, Hungary.
Eur Radiol. 2017 Jun;27(6):2419-2425. doi: 10.1007/s00330-016-4590-1. Epub 2016 Sep 22.
Previous studies using transthoracic echocardiography (TTE) observed moderate heritability of aortic root dimensions. Computed tomography angiography (CTA) might provide more accurate heritability estimates. Our primary aim was to assess the heritability of the aortic root with CTA. Our secondary aim was to derive TTE-based heritability and compare this with the CTA-based results.
In the BUDAPEST-GLOBAL study 198 twin subjects (118 monozygotic, 80 dizygotic; age 56.1 ± 9.4 years; 126 female) underwent CTA and TTE. We assessed the diameter of the left ventricular outflow tract (LVOT), annulus, sinus of Valsalva, sinotubular junction and ascending aorta. Heritability was assessed using ACDE model (A additive genetic, C common environmental, D dominant genetic, E unique environmental factors).
Based on CTA, additive genetic effects were dominant (LVOT: A = 0.67, E = 0.33; annulus: A = 0.76, E = 0.24; sinus of Valsalva: A = 0.83, E = 0.17; sinotubular junction: A = 0.82, E = 0.18; ascending aorta: A = 0.75, E = 0.25). TTE-derived measurements showed moderate to no genetic influence (LVOT: A = 0.38, E = 0.62; annulus: C = 0.47, E = 0.53; sinus of Valsalva: C = 0.63, E = 0.37; sinotubular junction: C = 0.45, E = 0.55; ascending aorta: A = 0.67, E = 0.33).
CTA-based assessment suggests that aortic root dimensions are predominantly determined by genetic factors. TTE-based measurements showed moderate to no genetic influence. The choice of measurement method has substantial impact on heritability estimates.
• Aortic root dimensions are determined by genetic and environmental effects. • Transthoracic echocardiography (TTE) demonstrated moderate to no genetic effects on aortic root dimensions. • Computed tomography angiography might provide more accurate heritability estimates compared to TTE. • Three-dimensional imaging techniques are needed to reliably quantify aortic root dimensions.
既往使用经胸超声心动图（TTE）的研究观察到主动脉根部尺寸具有中等程度的遗传性。计算机断层扫描血管造影（CTA）可能会提供更准确的遗传度估计。我们的主要目的是使用CTA评估主动脉根部的遗传度。我们的次要目的是得出基于TTE的遗传度，并将其与基于CTA的结果进行比较。
在布达佩斯全球研究中，198对双胞胎受试者（118对同卵双胞胎，80对异卵双胞胎；年龄56.1±9.4岁；126名女性）接受了CTA和TTE检查。我们评估了左心室流出道（LVOT）、瓣环、主动脉窦、窦管交界和升主动脉的直径。使用ACDE模型（A加性遗传、C共同环境、D显性遗传、E独特环境因素）评估遗传度。
基于CTA，加性遗传效应占主导（LVOT：A = 0.67，E = 0.33；瓣环：A = 0.76，E = 0.24；主动脉窦：A = 0.83，E = 0.17；窦管交界：A = 0.82，E = 0.18；升主动脉：A = 0.75，E = 0.25）。TTE得出的测量结果显示遗传影响为中度至无影响（LVOT：A = 0.38，E = 0.62；瓣环：C = 0.47，E = 0.53；主动脉窦：C = 0.63，E = 0.37；窦管交界：C = 0.45，E = 0.55；升主动脉：A = 0.67，E = 0.33）。
基于CTA的评估表明，主动脉根部尺寸主要由遗传因素决定。基于TTE的测量显示遗传影响为中度至无影响。测量方法的选择对遗传度估计有重大影响。
•主动脉根部尺寸由遗传和环境效应决定。•经胸超声心动图（TTE）显示对主动脉根部尺寸的遗传效应为中度至无效应。•与TTE相比，计算机断层扫描血管造影可能提供更准确的遗传度估计。•需要三维成像技术来可靠地量化主动脉根部尺寸。
