Omphalocele and Cardiac Abnormalities—The Importance of the Association

Abstract

Omphalocele is the most common ventral abdominal wall defect. Omphalocele is associated with other significant anomalies in up to 80% of cases, among which the cardiac ones are the most frequent. The aim of our paper is to highlight, through a review of the literature, the importance and frequency of association between the two malformations and what impact this association has on the management and evolution of patients with these pathologies. We reviewed the titles, the available abstracts, and the full texts of 244 papers from the last 23 years, from three medical databases, to extract data for our review. Due to the frequent association of the two malformations and the unfavorable effect of the major cardiac anomaly on the prognosis of the newborn, the electrocardiogram and echocardiography must be included in the first postnatal investigations. The timing of surgery for abdominal wall defect closure is mostly dictated by the cardiac defect severity, and usually the cardiac defect takes priority. After the cardiac defect is medically stabilized or surgically repaired, the omphalocele reduction and closure of the abdominal defect are performed in a more controlled setting, with improved outcomes. Compared to omphalocele patients without cardiac defects, children with this association are more likely to experience prolonged hospitalizations, neurologic, and cognitive impairments. Major cardiac abnormalities such as structural defects that require surgical treatment or result in developmental delay will significantly increase the death rate of patients with omphalocele. In conclusion, the prenatal diagnosis of omphalocele and early detection of other associated structural or chromosomal anomalies are of overwhelming importance, contributing to the establishment of antenatal and postnatal prognosis.

Neonate with an abnormal umbilicus

“…The defect is thought to be due to the embryonic dysplasia theory in combination with the malfunction of ectodermal placodes 2 . It is associated with other significant anomalies in up to 80% of cases, with cardiac anomalies being the most frequent 3 . This patient was found to have hypoplastic left heart syndrome, a large patent ductus arteriosus, and situs inversus (Figure 2).…”

“… 2 It is associated with other significant anomalies in up to 80% of cases, with cardiac anomalies being the most frequent. 3 This patient was found to have hypoplastic left heart syndrome, a large patent ductus arteriosus, and situs inversus (Figure 2 ). The treatment for omphalocele is usually early surgical intervention, but in patients with comorbid cardiac defects, the cardiac defect must be medically stabilized or surgically repaired before a delayed reduction and closure of the abdominal defect.…”

“…before a delayed reduction and closure of the abdominal defect. 3 After speaking with numerous physicians and their community Elders, the parents decided to pursue palliative care and transported the patient home where he expired.…”

“…This patient was found to have hypoplastic left heart syndrome, a large patent ductus arteriosus, and situs inversus (Figure 2). The treatment for omphalocele is usually early surgical intervention, but in patients with comorbid cardiac defects, the cardiac defect must be medically stabilized or surgically repaired before a delayed reduction and closure of the abdominal defect 3 . After speaking with numerous physicians and their community Elders, the parents decided to pursue palliative care and transported the patient home where he expired.…”