Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation

Congenit Heart Dis. 2013 Jul-Aug;8(4):E127-9. doi: 10.1111/j.1747-0803.2012.00695.x. Epub 2012 Aug 7.

Abstract

Hypoplasia of the aorta is a rare entity comprising tubular hypotrophy of a large segment of the thoracic and the abdominal aorta. We report for the first time the case of a 26-year-old man with Emery-Dreifuss muscular dystrophy presenting severe and diffuse hypoplasia of the aorta.

Keywords: Aorta; Cardiomyopathy; Hypoplasia; LMNA Gene Mutation; Laminopathy.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aorta / abnormalities*
  • Aortography / methods
  • Cardiomyopathy, Dilated / genetics
  • DNA Mutational Analysis
  • Fatal Outcome
  • Genetic Predisposition to Disease
  • Humans
  • Lamin Type A / genetics*
  • Male
  • Muscular Dystrophy, Emery-Dreifuss / diagnosis
  • Muscular Dystrophy, Emery-Dreifuss / genetics*
  • Mutation*
  • Phenotype
  • Tomography, X-Ray Computed
  • Vascular Malformations / diagnosis
  • Vascular Malformations / genetics*

Substances

  • LMNA protein, human
  • Lamin Type A