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

Abstract

Background 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. Case presentation 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. Conclusions 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.

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“…The most commonly associated anomaly is partial atrioventricular septal defect. A BAV is relatively common and is character-ized by the abnormal fusion of two leaflets of the aortic valve (AV) during development, resulting in a two leaf-let valve instead of the normal tricuspid AV [4][5][6].…”

Real-time 3D echocardiographic transilluminated imaging combined with artificially intelligent left atrial appendage measurement for atrial fibrillation interventional procedures

“…TrueVue Glass imaging is a new 3D cardiac ultrasound rendering mode that has been introduced in recent years ( Karagodin et al, 2020 ; Sun et al, 2021 ). It automatically hides surrounding cardiac tissues through a one-click operation and presents the heart chambers and small and large vessel chambers containing blood flow in a crystal-clear visualization.…”

Case report: Novel three-dimensional echocardiographic methods mapping aortic root pseudoaneurysm secondary to blood culture-negative endocarditis with bicuspid aortic valve involvement

“…Meanwhile, the TrueVue technique allows for novel photorealistic images of cardiac structures with a freely movable virtual light source integrated into the data set, effectively enhancing the depth perception and augmenting the visualization of anatomical structures ( 4 ). In addition, the TrueVue technology can be modified into a transparent mode, named TrueVue Glass, focusing on the blood pool–tissue interface; however, the tissue itself remains transparent, which leads to highlighted borders of the chambers, valves, and vessels within the heart ( 5 ).…”