OBJECTIVES: To explore the association of congenital heart disease and malformations of the gastrointestinal tract/abdominal wall. PATIENTS AND METHODS: Over seven years, 105 neonates presenting with congenital gastrointestinal/abdominal wall anomalies were explored for associated congenital heart disease. Sex, consanguinity, type of cardiac anomaly, type of gastrointestinal/abdominal wall anomaly, and chromosomal anomalies were all analyzed in order to find predisposing factors for this association. RESULTS: Both anomalies were found in 38% of the patients, predominantly in males. Esophageal atresia and esotracheal fistulas were the most frequent anomalies (36%), followed by anal atresia (30.5%). The most common associated cardiac anomaly was the ventricular septal defect (37.5%). Chromosomal anomalies were correlated to the presence of congenital malformations, mainly atrioventricular septal defects (86%, p < 0.05) and intestinal atresia (54.4%, p < 0.05). First-cousin consanguinity was found in 13.3% of the children with gastrointestinal/abdominal wall anomalies. This percentage rises to 25% with the association of a cardiac anomaly and to 50% with VACTERL syndrome. CONCLUSION: Congenital anomalies of the gastrointestinal tract/abdominal wall are associated with congenital heart disease in 38% of the cases. Consanguinity is a risk factor for the association of both these anomalies and for VACTERL syndrome. In case of gastrointestinal/abdominal wall anomalies, an associated cardiac anomaly must be actively sought, even if the clinical exam seems normal.
OBJECTIVES: To explore the association of congenital heart disease and malformations of the gastrointestinal tract/abdominal wall. PATIENTS AND METHODS: Over seven years, 105 neonates presenting with congenital gastrointestinal/abdominal wall anomalies were explored for associated congenital heart disease. Sex, consanguinity, type of cardiac anomaly, type of gastrointestinal/abdominal wall anomaly, and chromosomal anomalies were all analyzed in order to find predisposing factors for this association. RESULTS: Both anomalies were found in 38% of the patients, predominantly in males. Esophageal atresia and esotracheal fistulas were the most frequent anomalies (36%), followed by anal atresia (30.5%). The most common associated cardiac anomaly was the ventricular septal defect (37.5%). Chromosomal anomalies were correlated to the presence of congenital malformations, mainly atrioventricular septal defects (86%, p < 0.05) and intestinal atresia (54.4%, p < 0.05). First-cousin consanguinity was found in 13.3% of the children with gastrointestinal/abdominal wall anomalies. This percentage rises to 25% with the association of a cardiac anomaly and to 50% with VACTERL syndrome. CONCLUSION:Congenital anomalies of the gastrointestinal tract/abdominal wall are associated with congenital heart disease in 38% of the cases. Consanguinity is a risk factor for the association of both these anomalies and for VACTERL syndrome. In case of gastrointestinal/abdominal wall anomalies, an associated cardiac anomaly must be actively sought, even if the clinical exam seems normal.