left-right axis malformation

Genetics

• associated with defects in ACVR2B
• associated with defects in LEFTY2/TGFB4

Clinical manifestations

• loss of normal left-right asymmetry
• complete left-right asymmetry reversal imparts no deleterious consequences to the affected individual
• pulmonary isomerism
• randomization typically results in complex, often lethal heart malformations as well as abdominal abnormalities
  • complete atrioventricular canal defect
  • hypoplastic left ventricle
  • interrupted inferior vena cava

More general terms

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

More specific terms

• situs inversus

Database

• OMIM: https://mirror.omim.org/entry/602730