Spontaneous development and rupture of pulmonary artery aneurysm: a rare complication in an infant with peripheral pulmonary artery stenoses due to mutation of the elastin gene

Pediatr Cardiol. 2008 Mar;29(2):438-41. doi: 10.1007/s00246-007-9096-9. Epub 2007 Oct 3.

Abstract

We present a 3-year-old boy with an elastin gene mutation and multiple peripheral pulmonary stenoses, who developed aneurysms of the pulmonary arteries spontaneously. We performed transcatheter occlusion of the aneurysms with detachable coils. While pulmonary arterial aneurysms may develop following pulmonary balloon angioplasty, spontaneous development is exceedingly rare. To the best of our knowledge, this is the first report describing spontaneous development of pulmonary artery aneurysms in a patient with peripheral pulmonary artery stenoses due to mutation of the elastin gene or Williams-Beuren syndrome.

Publication types

  • Case Reports

MeSH terms

  • Aneurysm, Ruptured / diagnosis
  • Aneurysm, Ruptured / etiology*
  • Aneurysm, Ruptured / therapy
  • Angiography
  • Arterial Occlusive Diseases / complications*
  • Arterial Occlusive Diseases / diagnosis
  • Arterial Occlusive Diseases / genetics
  • Cardiac Catheterization
  • Child, Preschool
  • DNA / genetics*
  • Elastin / genetics*
  • Embolization, Therapeutic / methods
  • Follow-Up Studies
  • Humans
  • Male
  • Mutation*
  • Pulmonary Artery*
  • Rupture, Spontaneous
  • Tomography, X-Ray Computed
  • Williams Syndrome / complications*
  • Williams Syndrome / genetics
  • Williams Syndrome / metabolism

Substances

  • DNA
  • Elastin