[Ebstein's tricuspid anomaly and Down's syndrome. A clinical case report]
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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E Venturini1, L Musaio, R Strazzeri
1Divisione di Medicina, Presidio ospedaliero di Lovere, USSL 31.
Abstract:
The authors describe a case of a 55 years old white man with Down's syndrome in whom an Ebstein's anomaly of tricuspid valve was casually diagnosed. The peculiarity of this association was searched in the literature, trying to explain, at the same time, the poor symptomatology. The role of echocardiography in the diagnosis of Ebstein's anomaly is emphasized.
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