Omphalocele: Heart Disease

Abdominal wall defects are reported to occur in up to 1 in 2000 births. The two most common are gastroschisis and omphalocele . Omphalocele is an abdominal wall defect occurring in approximately 1 in 5000 births. It involves intestines, liver, and other abdominal organs remaining outside of the abdomen covered by peritoneum. This defect is a result of the abdominal contents not returning to the abdominal cavity during normal uterine development. Omphalocele can generally be detected on ultrasound by the end of the first trimester (week 11-14). It can be associated with chromosomal and structural anomalies as well as various syndromes. Beckwith-Wiedemann syndrome and cardiac abnormalities seem to occur with particular frequency. The classic presentation of Beckwith-Wiedemann Syndrome includes macroglossia, macrosomia, and omphalocele.

Of the abdominal wall defects, congenital heart disease is strongly associated with omphalocele, whereas gastroschisis has minimal association. The incidence of associated congenital heart disease is ~1/3 of cases; however, some studies suggest this number could be as high as 50%. Studies showing higher rates of congenital heart disease may have included more patients with Trisomy 18 or 13, which often have rates of heart disease over 90%. Larger omphaloceles are more likely associated with cardiac defects. A variety of structural cardiac defects have been described in various studies. Unfortunately, it is difficult to clearly identify those most likely to occur due to most studies including very few patients. Along with structural heart disease, persistent pulmonary hypertension of the newborn has been seen at an increased rate in multiple studies.