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  • Title: Echocardiographic diagnosis of congenital bicuspid aortic valve in gonadal dysgenesis.
    Author: Mutinelli MR, Nizzoli G, Chiumello G, Corallo S.
    Journal: G Ital Cardiol; 1986 Jun; 16(6):496-8. PubMed ID: 3758582.
    Abstract:
    Among the gonadal dysgenesis, Turner's syndrome (T.S.) is often associated with cardiovascular malformations, mainly of the aorta. In order to assess noninvasively the incidence of those abnormalities we have evaluated 36 consecutive female patients (pts) with gonadal dysgenesis, mean age 13.3 +/- 2 years, range 3-24 years, without a prior history of cardiovascular disease, by clinical examination chromosomal karyotyping, 12 leads electrocardiography (ECG), and by Time Motion (TM) and Two-Dimensional (2D) Echocardiography (Echo). The following parameters were considered: presence of an auscultatory systolic ejection click (SEC); evidence of a bicuspid aortic valve (BAV); aortic valve stenosis (AVS); aortic valve eccentricity index (AVEI); left ventricle wall hypertrophy (LVWH). 9 pts out 36 (25%) presented a BAV at the 2D Echo; 8 pts out of 36 (22%) presented a SEC, 3/9 (33%) mild AVS, 2/9 (22%) displayed AVEI on TM study and 3/9 (33%) had LVWH. These findings indicate that an isolated BAV is present in a high percentage of pts with gonadal dysgenesis, more than before suspected. Echocardiography shows to be particularly useful and reliable in the assessment of that abnormality.
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