MUTATION: TGFBR2

DISORDER NAME: Loeys-Dietz syndrome 2

MOLECULAR PATHWAY: TGF-B Vasculopathy

features

  • Thoracic aortic aneurysm and dissection (TAAD)

- Type A dissection at aortic root diameter of <5cm

- Dissection can sometimes occur with small enlargement of the aortic root, but also

- TGFBR2 patients medically managed like MFS patients have similar clinical outcomes

- Intracranial and other arteries aneurysms and dissections

  • Other features may occur
     
  • Vascular tortuosity
     
  • MFS-like skeletal findings
     
  • Craniofacial manifestations

- Hypertelorism

- Bifid uvula (cleft palate)

- Craniosynostenosis

- Easy bruising

- Atrophic scars

- Uterine rupture with pregnancy

- Allergic disorders

- IBS

Individuals with TGFBR1 mutations can meet diagnostic criteria of MFS or have non-syndromic features

Proportion of non-syndromic FTAAD attributed to mutation of TGFBR2 is 4%