Conditions / Genetic

aortic valve disease 1

info ยท Genetic

A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34.

Signs and symptoms

  • Aortic valve calcification
  • Bicuspid aortic valve
  • Aortic valve stenosis
  • Ventricular septal defect
  • Double outlet right ventricle
  • Mitral stenosis
  • Mitral atresia
  • Tetralogy of Fallot