Ascending Aortic Aneurysm in a Child With Fibulin-4 Deficiency

Ann Thorac Surg. 2018 Feb;105(2):e59-e61. doi: 10.1016/j.athoracsur.2017.08.041.

Abstract

EFEMP2 (alias FBLN4) encodes extracellular matrix protein fibulin-4, and its mutation is associated with autosomal recessive cutis laxa type 1B and leads to severe aortopathy with aneurysm formation and vascular tortuosity. A 4-month-old child presented with a large ascending aortic aneurysm, and genetic testing revealed an EFEMP2 mutation. We achieved successful repair of the ascending aortic aneurysm at 33 months of age and report the macroscopic and microscopic findings.

Publication types

  • Case Reports

MeSH terms

  • Aortic Aneurysm, Thoracic / diagnosis
  • Aortic Aneurysm, Thoracic / etiology*
  • Aortic Aneurysm, Thoracic / genetics
  • Blood Vessel Prosthesis Implantation
  • Cutis Laxa / complications*
  • Cutis Laxa / diagnosis
  • Cutis Laxa / genetics
  • DNA / genetics
  • Echocardiography
  • Extracellular Matrix Proteins / deficiency*
  • Extracellular Matrix Proteins / genetics
  • Genetic Testing
  • Humans
  • Infant
  • Male
  • Mutation

Substances

  • EFEMP2 protein, human
  • Extracellular Matrix Proteins
  • DNA

Supplementary concepts

  • Cutis Laxa, Autosomal Recessive, Type I