The aortic root in supravalvular aortic stenosis: The potential surgical relevance of morphologic findings

Abstract

Our data demonstrate that the entire valvular apparatus is always affected by the so-called supravalvular stenosis. Anatomic restoration of the aortic root should ideally take into account all of the deformed components by enlarging all three sinuses of Valsalva at the sinotubular junction.

Cardiovascular Disease in Williams Syndrome

“…16 However, these estimates are likely to be below the true prevalence because the majority of patients in those studies did not have evaluations of the coronary arteries, by either imaging or inspection at surgery. Stamm et al 34 reported a prevalence of coronary ostial stenosis of 45% in their surgical series of patients with SVAS. Ostial stenosis is more frequent in patients with WS and severe vascular disease 41 ; in those patients with stenosis of the thoracic aorta (STA), coronary ostial stenosis had a prevalence of ≈19%.…”

“…12,15,29,30 Two types of SVAS are typically seen in patients with WS: a discrete, hourglass narrowing at the sinotubular junction or a diffuse, long-segment stenosis of the ascending aorta 31 ( Figure 4). The hourglass type of SVAS is the more common of the two, 33,34 occurring in ≈75% of children. 35 The diffuse type of SVAS often is associated with stenoses of the brachiocephalic vessels.…”

“…In their report of 242 patients with WS who had undergone cardiac catheterization or surgery, Pham et al 43 reported that SVAS was associated with pulmonary artery stenoses or aortic arch abnormalities in 58% of children. Coronary artery abnormalities, whether ostial stenosis or arterial dilation, are seen in up to 45% of patients with SVAS 15,34,41 and likely contribute to sudden death in patients with WS. 44 Aortic valve abnormalities are also seen regularly in the setting of SVAS.…”

Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome

“…In a catheterization study of 26 patients with WBS, coronary artery dilation or stenosis was found in 27% (39). In mixed cohorts of individuals who had either WBS or mutations in the ELN gene in conjunction with severe SVAS requiring surgery, coronary disease was found in 28%-45% (49,50). Although coronary disease appears to be related to the severity of supravalvular aortic narrowing (39), case reports indicate that severe coronary artery disease leading to death may be the sole vascular feature in some patients with WBS (51,52).…”

Sporadic supravalvular stenosis in a young man

“…As a result, a characteristic hourglass narrowing of the aorta develops at the sinotubular junction. In approximately 30% of cases, there is diffuse tubular narrowing of the ascending aorta, often extending to the arch and the origin of the brachiocephalic vessels (4).…”