conotruncal heart malformation

Pathology

• cardiac outflow tract defects
  • tetralogy of Fallot
  • pulmonary atresia
  • double-outlet right ventricle
    • both the pulmonary artery & aorta arise from the right ventricle
  • truncus arteriosus communis
    • single outflow tract instead of a separate aorta & pulmonary artery
  • aortic arch anomalies

Genetics

• associated with defects in CFC1 gene
• associated with defects in TBX1
• associated with defects in GDF1

More general terms

• congenital anomaly (birth defect)
• genetic disease of the heart

Database

• OMIM: https://mirror.omim.org/entry/217095