Supravalvular aortic stenosis. Clinical and pathologic observations in six patients

Arch Pathol Lab Med. 1985 Feb;109(2):179-85.

Abstract

Supravalvular aortic stenosis with a mean pressure gradient of 101 mm Hg was encountered in six patients aged 1 1/2 to 12 years. Three patients had Williams syndrome. In two other patients the stenosis was familial. The angiographic/anatomic subtype of deformity was hourglass in four patients, diffuse in one, and membranous in one. Four patients are alive following successful surgical repair; the other two died without surgery. Microscopically, disorganized medial elements with fibrotic intima sometimes containing lacunae were observed in five cases; the one other had valvelike tissue only. Ultrastructurally, thick irregular elastic fibers, abundant swirling collagen, hypertrophied smooth-muscle cells, and scant ground substance characterized the medial tissue defect. Although hemodynamics during intrauterine development may predispose to localization of the stenosis to the supra-aortic valvar region, the cause for the mural dysplasia remains uncertain.

MeSH terms

  • Adult
  • Aorta / pathology*
  • Aorta / ultrastructure
  • Aortic Valve Stenosis / pathology*
  • Autopsy
  • Child
  • Child, Preschool
  • Collagen
  • Elastic Tissue / pathology
  • Elastic Tissue / ultrastructure
  • Extracellular Space
  • Female
  • Humans
  • Hypertrophy / pathology
  • Infant
  • Male
  • Microscopy, Electron
  • Muscle, Smooth, Vascular / pathology
  • Muscle, Smooth, Vascular / ultrastructure

Substances

  • Collagen