Clinicopathologic findings in congenital aneurysms of the great vessels

Am J Med Genet. 1996 Dec 18;66(3):289-99. doi: 10.1002/(SICI)1096-8628(19961218)66:3<289::AID-AJMG11>3.0.CO;2-I.

Abstract

We describe the clinical, histopathologic, and angiographic findings in four children with congenital abnormalities of the great vessels of unknown cause, comprising either single or multiple arterial aneurysms, aortic/arterial dilatation, vessel tortuosity, or combinations of these abnormalities. Two children had early and severe respiratory distress due to aneurysmal compression of the trachea. All children had diffuse dilatation of several arteries, and two children also had tortuosity of multiple arteries. Progression of these abnormalities was clearly evident in one child, in whom diffuse vessel irregularity and tortuosity affected intra-abdominal, and intra and extra-cranial arteries. One child died at 5 years, while the other three have undergone successful surgical repair in the first 3 months of life and are now well, between age 2.5 and 7 years. The phenotype of each child appears unique but all have in common the rare finding of aneurysms of the aorta and main pulmonary artery. Congenital aortic aneurysms did not occur as an isolated finding in any of these children.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple* / diagnostic imaging
  • Abnormalities, Multiple* / metabolism
  • Abnormalities, Multiple* / pathology
  • Aneurysm / congenital*
  • Aneurysm / diagnostic imaging
  • Aneurysm / metabolism
  • Aneurysm / pathology
  • Aorta / pathology
  • Aortic Aneurysm / congenital*
  • Aortic Aneurysm / diagnostic imaging
  • Aortic Aneurysm / metabolism
  • Aortic Aneurysm / pathology
  • Brain / blood supply
  • Brain / diagnostic imaging
  • Cells, Cultured
  • Collagen / biosynthesis
  • Extracellular Matrix / metabolism
  • Female
  • Fibrillins
  • Fibroblasts / metabolism
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Microfilament Proteins / metabolism
  • Pulmonary Artery / diagnostic imaging
  • Pulmonary Artery / pathology*
  • Radiography
  • Skin / cytology
  • Vasodilation

Substances

  • Fibrillins
  • Microfilament Proteins
  • Collagen