atrial septal defect type 6

(redirected from ASD6)

atrial septal defect type 6

A rarely reported congenital heart malformation (OMIM:613087) that is clinically identical to other ASDs, which are characterised by a communication of blood flow between the left and right atria. ASD6 is linked to a defect of TLL1, which encodes an M12A family peptidase that processes procollagen C-propeptides (e.g., chordin, pro-biglycan and pro-lysyl oxidase).