Recent genetic mappings show that a gene on human chromosome 21 called
Dyrk1a, which causes these heart defects. This gene has previously been linked to cognitive impairment and facial changes in Down syndrome, but its role in heart development was unknown.
Dyrk1a codes for an enzyme called DYRK1A.
This research is ongoing and it's shown that inhibiting DYRK1A can partially reverse changes in mouse hearts. But in humans the heart forms within the first 8 weeks, before even the baby is screened for Down Syndrome.
