The syndrome of supravalvular aortic stenosis, peripheral pulmonary stenosis, mental retardation and similar facial appearance

Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome

“…In early case reports and case series, the diagnosis was primarily established by cardiologists evaluating patients for a heart murmur, which usually was diagnosed as SVAS on cardiac imaging or through catheterization and/or surgery (1,35).…”

Echocardiographic features of supravalvular aortic stenosis.

“…As the echo beam sweeps up the ascending aorta cephalad, the pulmonic valve could frequently be seen if the sweep were too lateral (figs. 1,2). The proximal portion of the right pulmonary artery may be seen behind the ascending aorta as the sweep is carried further cephalad (figs.…”

Aortic and Mitral Valve Replacement

“…Figure 7 shows an example of the most recent type of outflow obstruction to be described-supravalvular obstruction. 3 There is discrete narrowing above the valves. Patients with this abnormality usually have some hypoplasia of the aorta as well, which makes the operation difficult.…”