What is the management approach for a patient with Pentalogy of Cantrell, a rare congenital disorder characterized by omphalocele, anterior diaphragmatic hernia, sternal defects, cardiac anomalies, and a diaphragmatic pericardial defect?

Management of Pentalogy of Cantrell

Pentalogy of Cantrell requires immediate multidisciplinary surgical intervention with staged repair prioritizing cardiac stabilization, followed by closure of the sternal, diaphragmatic, and abdominal wall defects, with survival dependent on the severity of cardiac anomalies and early surgical correction.

Diagnostic Confirmation and Classification

The diagnosis requires identification of the five characteristic defects 1, 2, 3:

• Midline supraumbilical abdominal wall defect (omphalocele) with herniation of abdominal viscera 1, 3
• Lower sternal defect with absence of the distal sternum 2, 3
• Anterior diaphragmatic hernia 1, 4
• Diaphragmatic pericardial defect with absent or deficient pericardium 2, 5
• Congenital cardiac anomalies including ASD, VSD, and other intracardiac defects 3, 4

Imaging protocol: Obtain chest radiography to document sternal defects, followed by echocardiography to define all cardiac anomalies (ASD, VSD, valvular abnormalities), and CT or MRI for precise delineation of diaphragmatic, pericardial, and abdominal wall defects before surgical planning 2, 3, 4.

Immediate Stabilization

Cardiac assessment takes priority as the severity of intracardiac defects determines survival—mortality approaches 80% in complete pentalogy 1. Look specifically for:

• Signs of cardiac failure: easy fatigability, restlessness during feeding, tachypnea 1
• Oxygen saturation and hemodynamic stability 1
• Presence of cyanosis or signs of pulmonary hypertension 6

Initiate cardiac failure treatment immediately if signs develop, including diuretics and afterload reduction 1.

Surgical Management Algorithm

Stage 1: Cardiac repair or palliation must be addressed first if hemodynamically significant defects exist 6. The cardiac anomalies dictate the surgical approach:

• For simple lesions (small ASD/VSD): May defer cardiac repair until later stages 6
• For moderate complexity lesions (large ASD/VSD, valvular disease): Require early definitive repair 6
• For complex lesions with cyanosis: May require initial palliation with systemic-to-pulmonary shunts 6

Stage 2: Thoracoabdominal wall reconstruction should occur as early as feasible after cardiac stabilization 1, 4:

• Close the sternal defect using prosthetic materials if native tissue insufficient 6
• Repair the anterior diaphragmatic hernia, reducing herniated organs and closing the diaphragmatic defect 6
• Close the abdominal wall defect, which may require staged closure if primary closure creates excessive tension 1, 3
• Address the pericardial defect with pericardioplasty using synthetic materials (Dacron, Gore-tex, or bovine pericardium) 6

Critical Pitfalls to Avoid

Do not delay surgery beyond the neonatal period—early surgical intervention is essential for survival, with reports showing normal growth achieved by 6 years when corrective surgeries are performed early in life 1.

Do not underestimate resource requirements: This complex surgery requires cardiac surgery capabilities, pediatric intensive care, and long-term follow-up 1. In resource-limited settings, arrange transfer to tertiary centers with cardiac surgery facilities before attempting repair 1.

Do not miss associated anomalies: Screen for additional congenital defects including craniosynostosis, corpus callosum hypogenesis, cleft lip/palate, and other midline defects that occur in up to 30% of cases 6, 3.

Long-Term Management

Classify patients using the ACHD AP system as "Great Complexity" (Class III anatomy) given the multiple structural defects 6. Patients require:

• Lifelong cardiology follow-up in specialized adult congenital heart disease centers 6
• Endocarditis prophylaxis for dental and surgical procedures if residual cardiac defects persist 6
• Serial echocardiography to monitor ventricular function and residual shunts 6
• Assessment for arrhythmias and heart failure symptoms at each visit 6

Prognosis: Survival rate for complete pentalogy is approximately 20%, but successful early surgical repair can result in normal growth and development 1. Mortality without surgery is nearly universal, typically occurring within the first year of life from cardiac failure or infection 1, 5.