Heart and Turner syndrome

被引：13

作者：

Donadille, Bruno ^{[1
]}

Christin-Maitre, Sophie ^{[1
]}

机构：

[1] Hop St Antoine, Endo ERN, Filiere FIRENDO, Serv Endocrinol,Ctr Constitutif,Ctr Reference Mal, F-75012 Paris, France

来源：

ANNALES D ENDOCRINOLOGIE | 2021年 / 82卷 / 3-4期

关键词：

Turner syndrome; Aortic dilatation; Aortic coarctation; Bicuspid aortic valve; Aortic dissection; Pregnancy; Rare disease; Heart disease; BICUSPID AORTIC-VALVE; ADULT PATIENTS; WOMEN; DILATATION; DISSECTION; HYPERTENSION; PREGNANCY; PROGRESSION; DIMENSIONS; MANAGEMENT;

D O I：

10.1016/j.ando.2020.12.004

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：135 / 140

页数：6

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