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[特纳综合征中的心血管系统疾病]

[Disorders of the cardiovascular system in Turner's syndrome].

作者信息

Král J, Musilová J, Hradec J, Petrásek J, Michalová K

机构信息

III. interní klinika fakultní nemocnice II s FP UNZ, Praha.

出版信息

Cas Lek Cesk. 1990 Jun 29;129(26):806-9.

PMID:2393889
Abstract

A group of 22 adults with Turner's syndrome, mean age 29.6 years, was subjected to a careful examination by one-dimensional, two-dimensional, pulsed and coloured Doppler echocardiography. The purpose was to assess the incidence and character of congenital and acquired abnormalities of the cardiovascular system which occur within the framework of this defined genetic syndrome. A quite normal echocardiographic finding was recorded in 13 patients, i. e. in 59.1%. In the remainder a wide spectrum of abnormalities was found such as prolapse of the mitral valve (in 13.6%), bicuspid aortal valve with a medium regurgitation (4.5%), hypoplasia of the coronary cusp of the aortal valve (4.5%), dilatation of the ascending aorta with a residual significant stenosis at the site after operation of coarctation of the thoracic aorta (4.5%), subaortal defect of the interventricular septum (4.5%) and slight left ventricular hypertrophy in patients with arterial hypertension (9.1%). Echocardiographic examination in Turner's syndrome makes early diagnosis of abnormalities of the cardiovascular system possible, incl. quantification of the haemodynamic impact. Some of these pathological changes (bicuspid aortal valve, dilatation of the root of the aorta) are for a long time clinically silent but may be nevertheless associated with serious complications. An echographic diagnosis made in time may be of decisive importance for the prevention of complications.

摘要

一组22名患有特纳综合征的成年人,平均年龄29.6岁,接受了一维、二维、脉冲和彩色多普勒超声心动图的仔细检查。目的是评估在这种明确的遗传综合征范围内发生的先天性和后天性心血管系统异常的发生率和特征。13名患者(即59.1%)记录到超声心动图结果完全正常。其余患者发现了广泛的异常,如二尖瓣脱垂(13.6%)、伴有中度反流的二叶式主动脉瓣(4.5%)、主动脉瓣冠状瓣发育不全(4.5%)、升主动脉扩张且在胸主动脉缩窄手术后仍有明显残余狭窄(4.5%)、室间隔膜周部缺损(4.5%)以及动脉高血压患者的轻度左心室肥厚(9.1%)。对特纳综合征进行超声心动图检查可早期诊断心血管系统异常,包括对血流动力学影响进行量化。其中一些病理变化(二叶式主动脉瓣、主动脉根部扩张)在临床上长期无症状,但仍可能伴有严重并发症。及时做出超声诊断对预防并发症可能具有决定性意义。

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