visceral heterotaxy

Genetics

• associated with defects in CFC1 (autosomal type 2)
• associated with defects in NODAL (autosomal type 5)

Clinical manifestations

• variable
• congenital anomaly
• complex cardiac malformations
  • situs inversus or situs ambiguus
  • transposition of the great vessels
  • ventricular septal defect
  • atrial septal defect
  • truncuscommunis
  • dextrocardia

More general terms

• congenital anomaly (birth defect)
• genetic syndrome (multisystem disorder)

More specific terms

• visceral heterotaxy X-linked type 1

Database

• OMIM: https://mirror.omim.org/entry/270100
• OMIM: https://mirror.omim.org/entry/605376
• OMIM: https://mirror.omim.org/entry/608808