Heart and Turner syndrome
Heart and Turner syndrome
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DOI：
10.1016/j.ando.2020.12.004
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发表时间：
2021-06-01
影响因子：
3.1
通讯作者：
Christin-Maitre, Sophie
中科院分区：
文献类型：
--
作者：
Donadille, Bruno;Christin-Maitre, Sophie
特纳综合征 (TS) 是一种罕见疾病 (ORPHA #881)，影响 10 万名新生女婴中约 50 名。他们的核型显示第二条 X 染色体完全或部分丢失。在 TS 中，先天性心血管畸形（如二叶式主动脉瓣和主动脉缩窄）很常见，分别影响 20-30% 和 7-18% 的 TS 人群。这些患者的发病率和死亡率很高，与高血压和/或主动脉扩张（40%）有关，从而诱发主动脉夹层。 2017 年发布的欧洲指南指出了如何使用磁共振成像 (MRI) 和/或回波描记术监测患者。不同的研究表明，心血管终身随访是必要的，因此对 TS 患者及其家人的教育是一个主要问题。本综述将介绍有关 TS 患者主动脉直径进展的最新数据以及当前心血管系统的分子知识。 (C) 2020 Elsevier Masson SAS。版权所有。
Turner syndrome (TS) is a rare disease (ORPHA #881) which affects about 50 in 100 000 newborn girls. Their karyotype shows a complete or partial loss of the second X chromosome. In TS, congenital cardiovascular malformations, such as bicuspid aortic valves and aortic coarctation are frequent, affecting 20-30% and 7-18% of the TS population, respectively. The morbidity and mortality of these patients are high and related to the presence of hypertension and/or aortic dilatation (40%), inducing aortic dissection. European guidelines published in 2017 have indicated how to monitor patients using magnetic resonance imaging (MRI) and/or echography. Different studies have shown that a cardiovascular lifelong follow up is necessary and therefore education of patients with TS and their families represents a major issue. This review will present recent data concerning the progression of aortic diameters as well as current molecular knowledge of the cardiovascular system in patients with TS. (C) 2020 Elsevier Masson SAS. All rights reserved.