Conditions / Genetic

visceral heterotaxy 6

info ยท Genetic

A visceral heterotaxy that is has_material_basis_in homozygous mutation in the CCDC11 gene (CFAP53) on chromosome 18q21.

Signs and symptoms

  • Situs inversus totalis
  • Dextrocardia
  • Abdominal situs inversus
  • Double outlet right ventricle
  • Right aortic arch
  • Transposition of the great arteries
  • Hypoplastic left ventricle
  • Common atrium
  • Total anomalous pulmonary venous return
  • Unbalanced atrioventricular canal defect