Conditions / Genetic
aortic valve disease 2
info ยท Genetic
A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22.
Signs and symptoms
- Calcification of the aorta
- Coarctation of aorta
- Bicuspid aortic valve
- Aortic aneurysm
- Aortic valve stenosis
- Aortic regurgitation
- Mitral regurgitation
- Ascending aortic dissection
- Patent foramen ovale
- Aortic tortuosity