Supravalvular aortic stenosis. Clinical and pathologic observations in six patients.
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.
D000328:Adult; D001011:Aorta / Q000473:pathology* / Q000648:ultrastructure; D001024:Aortic Valve Stenosis / Q000473:pathology*; D001344:Autopsy; D002648:Child; D002675:Child, Preschool; D003094:Collagen; D004547:Elastic Tissue / Q000473:pathology / Q000648:ultrastructure; D005110:Extracellular Space; D005260:Female; D006801:Humans; D006984:Hypertrophy / Q000473:pathology; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D009131:Muscle, Smooth, Vascular / Q000473:pathology / Q000648:ultrastructure
D003094:Collagen