MUTATION: MYH11

DISORDER NAME: MYH11

CLASSIFICATION: Non-syndromic FTAAD

MOLECULAR PATHWAY: Smooth Muscle Cell (SMC) Contractility

features

• Thoracic aortic aneurysm and dissection (TAAD)

- Ascending aneurysms and type A and B dissections

- Peripartum aortic dissection occurs

• PDA occurs frequently

No facial dimorphism and skeletal abnormalities

Prevalence of MYH11 mutations in patents with FTAAD is 1%