Patent ductus arteriosus and coarctation of the aorta in association with PRDM6 variants.

Patent ductus arteriosus (PDA) and coarctation of the aorta (CoA) are relatively common congenital heart defects. Pathogenic variants in PRDM6, which encodes a smooth-muscle-cell-specific transcription factor, have now been etiologically associated with non-syndromic PDA. We present three patients with PDA and CoA found to harbor PRDM6 variants, including a novel, likely-pathogenic variant.

Late left pulmonary artery stenosis after the Norwood procedure is prevented by a modification in shunt construction.

Background: Late left pulmonary artery (LPA) stenosis occurs commonly after the Norwood procedure, and complicates subsequent stages. Compression by the neoaorta and ductal stump may favor flow into the right pulmonary artery, resulting in LPA hypoplasia. We hypothesize that an early compromise of LPA flow contributes to late LPA stenosis, and have modified our shunt to compensate.