Web neck anomaly and its association with congenital heart disease.

To investigate the relationship between congenital heart disease and jugular lymphatic obstruction as manifested in web neck anomaly, we used the Iowa Birth Defects Registry to determine the incidence of congenital heart defects (CHD) in infants with and without web neck. Sixty percent of infants with web neck had CHD, with a high incidence of flow-related defects such as hypoplastic left heart, coarctation, and secundum atrial septal defect. Sixty-eight percent of infants with web neck had a genetic syndrome (37% Down syndrome, 13% Ullrich-Turner syndrome, and 5% Noonan syndrome), and 24% had dysmorphic features consistent with lymphatic obstruction sequence. When infants with Down, Ullrich-Turner, and Noonan syndrome and web neck were compared to infants with the same syndrome but without web neck, those with web neck were significantly more likely to have flow-related heart defects. Infants with Ullrich-Turner syndrome and web neck had an 11-fold higher incidence of coarctation, compared to those with a normal neck. Our data suggests web neck is associated with both flow and nonflow-related heart defects. This association implies a pathogenetic relationship and appears to be independent of causal factors. The finding of web neck or nuchal cystic hygroma on a prenatal ultrasound or newborn examination should prompt a search for CHD.