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Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene
  1. Z Szabo1,
  2. M W Crepeau2,
  3. A L Mitchell3,
  4. M J Stephan4,
  5. R A Puntel5,
  6. K Yin Loke6,
  7. R C Kirk6,
  8. Z Urban1
  1. 1Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA
  2. 2Department of Biochemistry, John A. Burns School of Medicine, University of Hawaii, Honolulu, HI
  3. 3University of Washington, Seattle, Washington, USA
  4. 4Developmental Pediatrics, Madigan Army Medical Center, Tacoma, Washington, USA
  5. 5Pediatric Cardiology, Madigan Army Medical Center
  6. 6Paediatrics, National University Hospital, Singapore
  1. Correspondence to:
 Dr Zsolt Urban
 Department of Pediatrics, Washington University School of Medicine, 660 S Euclid Ave, Box 8208, St Louis, MO 63110, USA; urban_z{at}kids.wustl.edu

Abstract

Background: Cutis laxa is an acquired or inherited condition characterized by redundant, pendulous and inelastic skin. Autosomal dominant cutis laxa has been described as a benign disease with minor systemic involvement.

Objective: To report a family with autosomal dominant cutis laxa and a young girl with sporadic cutis laxa, both with variable expression of an aortic aneurysmal phenotype ranging from mild dilatation to severe aneurysm or aortic rupture.

Methods and results: Histological evaluation of aortic aneurysmal specimens indicated classical hallmarks of medial degeneration, paucity of elastic fibres, and an absence of inflammatory or atherosclerotic lesions. Electron microscopy showed extracellular elastin deposits lacking microfibrillar elements. Direct sequencing of genomic amplimers detected defects in exon 30 of the elastin gene in affected individuals, but did not in 121 normal controls. The expression of mutant elastin mRNA forms was demonstrated by reverse transcriptase polymerase chain reaction analysis of cutis laxa fibroblasts. These mRNAs coded for multiple mutant tropoelastins, including C-terminally truncated and extended forms as well as for molecules lacking the constitutive exon 30.

Conclusions: ELN mutations may cause severe aortic disease in patients with cutis laxa. Thus regular cardiac monitoring is necessary in this disease to avert fatal aortic rupture.

  • aAo, aneurysmal aortic tissue
  • CL, cutis laxa
  • nAo, non-aneurysmal aortic tissue
  • aorta
  • aneurysm
  • genetics
  • mutation
  • splicing

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Footnotes

  • Published Online First 5 August 2005

  • Conflicts of interest: none declared

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