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- W2078266965 abstract "Sotos syndrome is an autosomal dominant condition, sometimes complicated with cardiovascular malformations. We report the case of a 10-year-old Japanese male with Sotos syndrome found to have double orifice mitral valve (DOMV) combined with left ventricular noncompaction (LVNC) by transthoracic echocardiography. Three-dimensional echocardiography clearly demonstrated the trabecular meshwork, two separate mitral orifices with subvalvular apparatuses, and multiple tendinous cords. To the best of our knowledge, this is the first case of Sotos syndrome associated with DOMV and LVNC. Considering that mitral valve leaflets, chordae, papillary muscles, and primitive trabeculations of the left ventricle originate from the endomyocardial cushions in the developing heart, both cardiac defects in the present case might be explained by a common developmental aberrancy of endomyocardium. Patients with Sotos syndrome should be screened for mitral valve anomaly, subvalvular apparatuses, and left ventricular myocardial function as well as structural abnormalities. <Learning objective: Sotos syndrome is sometimes complicated with cardiovascular malformations, including left ventricular noncompaction (LVNC) as reported in some previous articles. Considering the rarity of both the syndrome and LVNC, this combination might not be coincidental. It is intriguing that the present case had double orifice mitral valve in addition to LVNC, as both mitral valve leaflets and primitive trabeculations of LV might be derived in common from aberrant development of the endomyocardial cushions.>." @default.
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- W2078266965 date "2015-03-01" @default.
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- W2078266965 title "Double orifice mitral valve combined with left ventricular noncompaction in a child with Sotos syndrome" @default.
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- W2078266965 doi "https://doi.org/10.1016/j.jccase.2014.11.002" @default.
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