MUTATION: PRKG1

DISORDER NAME: PRKG1

CLASSIFICATION: Non-syndromic FTAAD

MOLECULAR PATHWAY: Smooth Muscle Cell (SMC) Contractility

features

• Thoracic aortic aneurysm and dissection (TAAD)

- Acute aortic dissection of ascending and descending aorta at mean age 31 (17-51) in 63% of the patients

- Aortic root aneurysm diagnosed at mean age of 42 (19-54) in 37% of the patients

- Aortic size at risk of dissection < 5cm

• Peripartum aortic dissection occurs

No facial dimorphism and skeletal abnormalities

Prevalence of PRKG1 mutations in patients with FTAAD is 1%