Definition of Heterotaxy

Reviewed on 6/3/2021

Heterotaxy: The abnormal placement of organs due to failure to establish the normal left-right patterning during embryonic development. The morbidity (disease) and mortality (death) from heterotaxy are caused by congenital defects, especially congenital heart disease.

Mutations in the zinc finger transcription factor ZIC3 cause an X-linked form of heterotaxy and have also been identified in patients with isolated congenital heart disease.

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