双孔二尖瓣(DOMV)和二尖瓣主动脉瓣(BAV)畸形的患者很少见。尽管在某些遗传综合征中可以检测到DOMV或BAV,尚未有报道同时出现在特纳综合征(TS)中。TrueVue,TouchVue,和TrueVue玻璃是先进的三维超声心动图(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。在这里,我们报告了上述技术在一种罕见的诊断和评估中的新颖用途,联合瓣膜畸形。同时,我们还回顾了涉及DOMV和BAV的病例及其与各种遗传综合征的关联的文献.
我们介绍了一个5岁女孩因发育迟缓而被诊断患有TS的案例。通过超声心动图检查发现DOMV和BAV。三维经胸超声心动图以及一系列新的先进技术被用来清楚地显示各级二尖瓣装置的空间结构,主动脉瓣,和拱门便于准确诊断。
这是DOMV和BAV都与TS相关联的第一种情况。创新的TrueVue和TrueVue玻璃提供前所未有的摄影立体图像,而TouchVue技术通过添加虚拟光源以显示逼真的光影效果,极大地改善了超声诊断工作流程和罕见瓣膜畸形的诊断性能。
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.