Pattern of cardiovascular anomalies associated with esophageal atresia: Support for a caudal pharyngeal arch neurocristopathy

Patients with cephalic neurocristopathy (an abnormality of neural crest dif ferentiation) present a striking pattern of associated cardiovascular anoma lies (CVA). Therefore, to support the hypothesis that esophageal atresia (E A) may be related to a defective contribution from the cephalic neural cres t, we studied the pattern of CVA associated with EA. Medical records of 99 patients with isolated EA, 101 with isolated anorectal malformations (ARM) and 15 with both EA and ARM, consecutively admitted to our unit, were revie wed. The prevalence and pattern of CVA associated with isolated EA or isola ted ARM were compared on the assumption that the cranial or caudal location of a major malformation is related to a different regional patterning of a ssociated anomalies. The prevalence of CVA was 39% in patients with isolate d EA and 7% in those with isolated ARM (p < 0.01). Neural crest-related CVA (aortic arch anomalies, conotruncal defects, and superior vena cava malfor mations) accounted for 72% of all CVA in patients with isolated EA versus 1 4% in those with isolated ARM (p < 0.02). In patients with isolated EA, ano malies of the fourth and sixth aortic arch derivatives accounted for 75% of all neural crest related CVA. The present pattern of CVA in infants with E A supports the concept that EA may be related to an abnormal contribution f rom caudal portion of cephalic neural crest.