MUTATION: MAT2A

DISORDER NAME: MAT2A

CLASSIFICATION: Non-syndromic FTAAD

features

• Thoracic aortic aneurysm (and dissections)(TAAD)

- No Dissections have been reported so far

- Only 50% of adults with MATA2 mutation have enlargement of aortic root and ascending aorta, their median age being 50 years (37-56) at the time of diagnoses

• Bicuspid aortic valve (BAV) is common among patients with MAT2A mutation
   
• Autosomal dominant inheritance

No facial dimorphism and skeletal abnormalities