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

Am J Med Genet. 1994 Sep 1;52(3):297-301. doi: 10.1002/ajmg.1320520309.


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)

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Aorta / abnormalities
  • Aortic Coarctation / complications
  • Aortic Coarctation / etiology
  • Aortic Coarctation / physiopathology
  • Aortic Valve Stenosis / complications
  • Aortic Valve Stenosis / etiology*
  • Aortic Valve Stenosis / physiopathology
  • Blood Pressure
  • Child
  • Child, Preschool
  • Face / abnormalities
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / complications
  • Male
  • Prognosis
  • Pulmonary Valve Stenosis / complications
  • Pulmonary Valve Stenosis / etiology*
  • Pulmonary Valve Stenosis / physiopathology
  • Syndrome