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Published on: May 5, 2018
[Congenital heart disease associated with gastrointestinal malformations]
Ghassan Chéhab1, Hassan Fakhoury, Zakhia Saliba
1Département de Pédiatrie, Faculté des Sciences médicales, Université Libanaise, Hadath, Grand Beyrouth, Liban. ChehabGh@cyberia.net.lb
Insights
Congenital gastrointestinal/abdominal wall anomalies occur with congenital heart disease in 38% of neonates. Consanguinity is a risk factor, and cardiac screening is vital for infants with GI/abdominal wall defects.
Area of Science:
- Pediatric Surgery
- Cardiology
- Medical Genetics
Context:
- Congenital anomalies of the gastrointestinal tract/abdominal wall and congenital heart disease (CHD) can co-occur.
- Understanding the association and predisposing factors is crucial for early diagnosis and management.
Purpose:
- To investigate the association between congenital gastrointestinal/abdominal wall malformations and CHD.
- To identify predisposing factors for this co-occurrence in neonates.
Summary:
- A study of 105 neonates found 38% had both gastrointestinal/abdominal wall and cardiac anomalies.
- Esophageal atresia, tracheoesophageal fistulas, and anal atresia were common GI issues, while ventricular septal defects were the most frequent cardiac anomaly.
- Chromosomal anomalies were linked to atrioventricular septal defects and intestinal atresia; consanguinity was a risk factor, particularly for VACTERL syndrome.
Impact:
- Highlights the significant co-occurrence rate of these congenital anomalies.
- Emphasizes the need for thorough cardiac evaluation in neonates with gastrointestinal/abdominal wall defects, regardless of initial clinical presentation.
- Identifies consanguinity as a significant risk factor, aiding in risk assessment for affected families.
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.
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