Three decades of follow‐up of aortic and pulmonary vascular lesions in the Williams‐Beuren syndrome

Abstract

The diagnostic criteria of the Williams-Beuren syndrome (WBS) were established almost 3 decades ago. Until now there has been little knowledge about the natural and post-surgical history of vascular lesions in this syndrome. In order to evaluate the long term follow-up of aortic and pulmonary vascular lesions, we have analysed the catheterization data, angiocardiograms, and Doppler-echo measurements in 59 patients who were seen at least twice in our institution between 1961 and 1993. Their follow-up periods ranged from 2.1 to 28.2 years. Of 45 patients with supravalvular aortic stenosis (SVAS) with a mean follow-up period of 12.9 years, it became evident that pressure gradients of less than 20 mm Hg in infancy generally remained unchanged during the first two decades of life. Pressure gradients exceeding 20 mm Hg increased from an average of 35.5 mm Hg to 52.7 mm Hg in 13 patients. Of these, 8 required surgical relief of the narrowing. In 7 patients aortic hypoplasia was documented. In 5 of them the caliber of the aorta showed a tendency towards normalisation within a period of 11.9 to 23.9 years. Of 6 individuals with aortic hypoplasia and surgical relief of SVAS, 4 patients developed restenosis at the distal end of the aortoplasty patch. In contrast, 9 patients with operated SVAS-but without aortic hypoplasia-remained free of restenosis over a period of 11 years (mean). Coarctation occurred in 4/59 patients; restenosis was seen in 2 after 5 and 16 years. Peripheral pulmonary stenosis was followed in 23 patients over 14.4 years (mean).(ABSTRACT TRUNCATED AT 250 WORDS)

Elastin: mutational spectrum in supravalvular aortic stenosis

“…Long term follow-up of aortic and pulmonary vascular lesions in WBS patients with SVAS has shown that individuals with moderate pressure gradients (exceeding 20 mm Hg) can present with pressure increases later in life, often requiring surgical intervention for the life-threatening vascular narrowing. 17,18 Isolated SVAS may also be progressive and such patients require follow-up but the situation with regard to monitoring of mutation carriers with no apparent cardiovascular abnormalities is not resolved.…”

Congenital heart defects in Williams syndrome

“…In contrast to SVAS, pulmonary artery stenosis 17,20,21 in this population often regressed or resolved with time. Wessel et al 50 reported the pressure gradient decreased spontaneously from a mean of 23 to 9.5 mmHg in 46.9% (23/49) patients with pulmonary artery stenosis over 14 years. Pober 1 found that patients with WS were at an increased risk for major adverse cardiac events, and congenital cardiovascular disease was responsible for most of the morbidity associated with WS.…”

Williams Syndrome - Review of Clinical Features and It’s Medical Considerations in Dental Treatment

“…Like other arterial stenosis, incidence of stenosis in renal artery could be higher in WS. This hypothesis is supported by the findings that hypoplasia of the ascending aorta and the aortic loop and even long aortic stenosis was seen in a comparatively high number of patients [18]. Considering all the potential renal abnormalities sonographic examination of the kidneys and urinary tract should be included in the standard diagnostic work-up once the initial diagnosis of WS has been made.…”