Isolated aortic dilation without osteoarthritis: a case of SMAD3 mutation

Cardiol Young. 2018 May;28(5):765-767. doi: 10.1017/S1047951118000082. Epub 2018 Feb 15.


Aneurysm-osteoarthritis syndrome is a recently discovered inherited autosomal dominant connective tissue disease caused by SMAD3 mutations. Aneurysm-osteoarthritis syndrome is responsible for 2% of familial thoracic aortic aneurysms and dissections and is characterised by aneurysms, dissections, and tortuosity throughout the arterial tree in combination with osteoarthritis. Early-onset osteoarthritis is present in almost all patients. We present the case of a non-syndromic young boy with SMAD3 mutation isolated from the dilated aortic root and ascending aorta without osteoarthritis.

Keywords: Dilated aortic root; Loeys-Dietz disease; aneurysm–osteoarthritis syndrome; ascending aorta.

Publication types

  • Case Reports

MeSH terms

  • Aorta / diagnostic imaging*
  • Aortic Aneurysm, Thoracic / diagnosis
  • Aortic Aneurysm, Thoracic / genetics*
  • Aortic Dissection / diagnosis
  • Aortic Dissection / genetics*
  • Child
  • DNA / genetics*
  • DNA Mutational Analysis
  • Echocardiography
  • Humans
  • Magnetic Resonance Imaging, Cine
  • Male
  • Mutation*
  • Osteoarthritis
  • Pedigree
  • Phenotype
  • Smad3 Protein / genetics*


  • SMAD3 protein, human
  • Smad3 Protein
  • DNA

Supplementary concepts

  • Aortic Aneurysm, Familial Thoracic 1