MUTATION: SMAD 3

DISORDER NAME: Aneurysms Osteoarthritis syndrome (AOS) Loeys-Dietz syndrome 3


features

  • Thoracic aortic aneurysm and dissection (TAAD)

- Acute aortic dissection

  • Vascular tortuosity
     
  • Intercranial and other arteries aneurysms and dissections
     
  • Marfan skeletal features and striae
     
  • LDS features:

- Hypertelorism

- Bifid uvula (cleft palate)

- Early onset of osteoarthritis

Patients with SMAD3 mutations identified in families with FTAAD, had absent features of AOS/LDS3.

The same patients had:

- Thoracic aortic aneurysm and dissections (TAAD

- Abdominal, intracranial and other arterial aneurysms

- The onset of dissection between ages 25-54 (mean 42)

- Average age of aortic root aneurysm diagnoses was between ages 17-74 (mean 37 years)