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.

特纳综合征 (TS) 是一种罕见疾病 (ORPHA #881)，每 10 万名新生儿中就有 50 人受到影响。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，例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，并且与高血压和/或主动脉扩张 (40%) 的存在有关，导致主动脉夹层。2017 年发布的欧洲指南指出了如何使用磁共振成像 (MRI) 和/或超声成像来监测患者。不同的研究表明，心血管终生随访是必要的，因此对 TS 患者及其家人的教育是一个主要问题。