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