Double-orifice mitral valve associated with multivalvular involvement: a new entity?

Gassó, Lucía Fernández; Lopez-Guarch, Carmen Jimenez; Robles, José A. García; Solı́s, Jorge

doi:10.1093/eurheartj/ehaa240

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“…In addition, the fact that BAV occurs more frequently in males and in patients with TS suggests a potential X-linked inheritance [ 7 , 23 ]. Fernandez Gasso L presented an idea that multivalvular disease may be genetic [ 24 ]. Based on these findings, our case may be a hint that multivalvular disease is associated with the X chromosome.…”

Section: Discussionmentioning

confidence: 99%

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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et al. 2021

BMC Cardiovasc Disord

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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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Section: Discussionmentioning

confidence: 99%