[The spectrum of supravalvular aortic stenosis: clinical findings of 150 patients with Williams-Beuren syndrome and the isolated lesion (author's transl)].
The clinical findings of 150 patients with supravalvular aortic stenosis are presented. No correlation was found between the clinical findings and the hemodynamic degree of severity, with the exception that an ECG of left ventricular hypertrophy and strain was more common in patients with a LV pressure above 200 mm Hg. In this latter group of patients there is a significantly higher number of patients without the typical appearance of the Williams-Beuren syndrom. The analysis of the additional anomalies and mental retardation in the Williams-Beuren syndrom and the isolated cardiac lesion shows clearly that no distinct separation between these 2 groups is possible. This points towards the same pathogenesis.
D001024:Aortic Valve Stenosis / Q000150:complications / Q000503:physiopathology*; D006332:Cardiomegaly / Q000503:physiopathology; D004562:Electrocardiography; D005149:Facial Expression; D005260:Female; D006439:Hemodynamics; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D013577:Syndrome
Spektrum der supravalvulären Aortenstenose: Untersuchungsergebnisse bei 150 Patienten mit Williams-Beuren-Syndrom und der isolierten Form der supravalvulären Aortenstenose.