Rare double orifice mitral valve malformation associated with bicuspid aortic valve in Turner syndrome: diagnosed by a series of novel three-dimensional echocardiography and literature review.
Rare double orifice mitral valve malformation associated with bicuspid aortic valve in Turner syndrome: diagnosed by a series of novel three-dimensional echocardiography and literature review.
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特纳综合征罕见双口二尖瓣畸形合并二尖瓣主动脉瓣：一系列新型三维超声心动图诊断及文献综述
DOI：
10.1186/s12872-021-02184-2
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发表时间：
2021-08-04
影响因子：
2.1
通讯作者：
Ren W
中科院分区：
文献类型：
--
作者：
Sun F;Tan X;Sun A;Zhang X;Liang Y;Ren W
同时患有双孔二尖瓣（DOMV）和二叶式主动脉瓣（BAV）畸形的患者很少见。虽然DOMV或BAV可以在某些遗传综合征中检测到，但尚未报道其同时出现在Turner综合征（TS）中。TrueVue、TouchVue和TrueVue Glass是先进三维超声心动图（3DE）的最新技术，是二维超声心动图（2DE）诊断先天性心脏畸形的重要信息补充。在此，我们报告了上述技术在诊断和评价一种罕见的合并瓣膜畸形中的新用途。同时，我们也回顾了文献中同时涉及DOMV和BAV的病例及其与各种遗传综合征的关系。我们目前的情况下，一个5岁的女孩被诊断为TS，因为发展迟缓。超声心动图检查发现DOMV和BAV。应用三维经胸超声心动图及一系列新的先进技术，可清晰显示二尖瓣、主动脉瓣及主动脉弓各层空间结构，有助于准确诊断。这是第一例DOMV和BAV均与TS相关的病例。创新的TrueVue和TrueVue Glass提供了前所未有的摄影立体图像，而TouchVue技术通过添加虚拟光源来显示逼真的光影效果，大大改善了超声诊断工作流程和罕见瓣膜畸形的诊断性能。在线版本包含补充材料，可通过10.1186/s12872-021-02184-2获得。
Patients with both double orifice mitral valve (DOMV) and bicuspid aortic valve (BAV) malformation are rare. Although DOMV or BAV can be detected in some genetic syndromes, it has not been reported to simultaneously appear in Turner syndrome (TS). TrueVue, TouchVue, and TrueVue Glass are the latest technologies in advanced three-dimensional echocardiography (3DE), which is an important information supplement to two-dimensional echocardiography (2DE) for the diagnosis of congenital cardiac malformations. Herein we report the novel use of the above-mentioned technologies in the diagnosis and evaluation of a rare, combined valve malformation. Meanwhile, we also reviewed the literature for cases involving both DOMV and BAV and their association with various genetic syndromes. We present the case of a 5-year-old girl diagnosed with TS because of a developmental delay. DOMV and BAV were found through echocardiographic examination. Three-dimensional transthoracic echocardiography as well as a series of novel advanced techniques were applied to clearly display the spatial structure of all tiers of the mitral valve apparatus, aortic valve, and arch to facilitate an accurate diagnosis. This is the first case in which both DOMV and BAV were associated with TS. Innovative TrueVue and TrueVue Glass offer unprecedented photographic stereoscopic images, while TouchVue technology greatly improved the ultrasonic diagnostic workflow and the diagnostic performance of rare valve malformations by adding virtual light sources to display realistic light-shadow effects. The online version contains supplementary material available at 10.1186/s12872-021-02184-2.
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影响因子：
0.7
作者：
Khani, Mohammad;Rohani, Atoosheh
通讯作者：
Rohani, Atoosheh
DOI：
10.1111/echo.12382
发表时间：
2014-01-01
影响因子：
1.5
作者：
Kocabas, Abdullah;Ekici, Filiz;Aktas, Dogukan
通讯作者：
Aktas, Dogukan
影响因子：
3.5
作者：
Sun, Feifei;Chen, Yixin;Li, Dongyu
通讯作者：
Li, Dongyu
影响因子：
2.8
作者：
BANORODRIGO, A;VANPRAAGH, S;VANPRAAGH, R
通讯作者：
VANPRAAGH, R
影响因子：
0.9
作者：
Karas, S;Barbetseas, J;Toutouzas, P
通讯作者：
Toutouzas, P