MUTATION: TGFB2

DISORDER NAME: Loeys-Dietz syndrome 4

MOLECULAR PATHWAY: TGF-B Vasculopathy


features

  • Thoracic aortic aneurysm and dissection (TAAD)

- Type A dissection most common

- Type B dissections are less frequent

- Early dissections <5cm have not been documented

- Majority of patients with TGFB2 mutation were diagnosed with aortic root aneurysm at between ages 5 and 53 and presented with dissection a mean age 46

  • No or very mild MFS and LDS skeletal features
     
  • Vascular tortuosity
     
  • Intracranial aneurysms have been reported

Proportion of non-syndromic FTAAD attributed to mutation of TGFB2 is 1%