Pentalogy of Cantrell

Pentalogy of Cantrell is a rare congenital disorder characterized by a combination of five midline defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart. The five classic components include: (1) a midline supraumbilical abdominal wall defect (omphalocele), (2) a defect of the lower sternum, (3) a deficiency of the anterior diaphragm, (4) a defect in the diaphragmatic pericardium, and (5) intracardiac anomalies, most commonly ventricular septal defect, but also atrial septal defect, tetralogy of Fallot, or left ventricular diverticulum. The condition is also known as Cantrell syndrome, Cantrell-Haller-Ravitch syndrome, or thoracoabdominal syndrome. In severe cases, the heart may protrude through the chest wall (ectopia cordis), which is a hallmark of the most complete form of the condition. The disorder results from a developmental defect occurring during embryogenesis, specifically a failure of proper migration and fusion of the lateral mesodermal folds around the third week of gestation. Not all patients present with all five components; incomplete or partial forms are more common than the complete pentalogy. The severity of the condition varies widely, ranging from mild forms with only partial defects to severe presentations with ectopia cordis and complex cardiac malformations. Diagnosis can often be made prenatally through ultrasound, sometimes as early as the first trimester. Treatment is primarily surgical and depends on the severity and combination of defects present. Surgical repair may involve closure of the abdominal wall defect, sternal reconstruction, repair of the diaphragmatic defect, and correction of intracardiac anomalies. Prognosis varies significantly based on the severity of the cardiac defects and whether ectopia cordis is present. Complete forms with ectopia cordis carry a high mortality rate, while patients with incomplete forms and less severe cardiac involvement may have a more favorable outcome with appropriate surgical intervention. Management requires a multidisciplinary team including pediatric cardiac surgeons, neonatologists, and pediatric cardiologists.

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