Surgical Repair of Tetralogy of Fallot and a Large Congenital Diaphragmatic Hernia in a 16-Week-Old Infant With Pentalogy of Cantrell and a Large Omphalocele: A Case Report

Background

Pentalogy of Cantrell (POC) is a rare congenital disorder, which involves a group of abnormalities in the (1) heart, (2) pericardium, (3) sternum, (4) diaphragm, and (5) midline abdominal wall, which was first reported by Cantrell et al in 1958. ¹ The diagnosis of POC may be made as early as the first trimester by prenatal ultrasound and can be confirmed with postnatal imaging studies. ² The precise diagnostic confirmation is usually made postnatally through surgical intervention. ² The most common cardiac abnormalities include ventricular septal defect (VSD), atrial septal defect (ASD), pulmonary stenosis, left ventricular diverticulum, and tetralogy of Fallot (TOF).^1,3 The most common malformations in other organ systems include omphalocele, diaphragm defect, lung hypoplasia, intestinal malrotation, and ectopia cordis. ⁴ The disease incidence is estimated to be 1:100 000 to 180 000 live births (using the rate of ectopia cordis), with a male-to-female ratio of 1.35:1.^4,5

The presentation, disease severity, and the compatibility with life are unique in each case, creating challenges for management. There is a paucity of cases reporting TOF with POC management in the literature.

Case

The patient was a full-term female whose POC consisted of tetralogy of Fallot, congenital diaphragmatic hernia, and omphalocele found prenatally. The patient was born at 39 weeks and three days via C-section, with a birth weight of 2640 g (7%), head circumference of 34 cm (39%), and APGAR scores of 8 at 1 min and 5 min. She was intubated at birth due to respiratory distress and received oxygen support. The echocardiogram at birth showed TOF with a severely hypoplastic right ventricular outflow tract (RVOT), a moderately hypoplastic main pulmonary artery diameter of 3.4 mm (Z score −5.3), and hypoplastic pulmonary artery branches (2.5 mm on the right, Z score −3.5 and 2.3 mm on the left, Z score −3.5). There was a patent ductus arteriosus, the left anterior descending coronary artery appeared to arise from the left coronary artery, and there was no pericardial effusion. She was managed with a prostaglandin infusion and was started on propranolol on day 8 of life. A computed tomography angiogram at two weeks of life was consistent with the echocardiographic findings, reporting an RVOT diameter of 3 mm and hypoplastic pulmonary valve and branch pulmonary arteries (Figure 1A and B). She was extubated at three weeks of life.

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Figure 1.

(A) Computed tomography (CT) angiogram at birth: Left ventricle and aorta in red , indicated by solid arrow, right ventricle and pulmonary arteries in blue , indicated by dashed arrow ; (B–D) Right ventricle and pulmonary arteries in blue, at four months of age (C, Posterior view; D, Cranial view.) L, left.

A chest X-ray demonstrated bowel in the chest, representing a presumed diaphragmatic hernia (Figure 2A and B). Chromosomal microarray revealed a 198kB copy gain from 13q21.1. The omphalocele consisted of 50% of the abdominal area, with the contents appearing to have bowel and liver. Attempts to reduce the omphalocele were delayed, and Aquaphor was applied topically to allow the defect to epithelialize. The patient had no significant abnormalities in other organ systems. Her respiratory status remained stable over the first seven weeks of life, and she tolerated enteral feedings well.

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Figure 2.

Chest and abdominal x-rays at birth (A), ten days (B), three months (C), and four months (D). Red arrow in D shows the results of the repaired diaphragmatic hernia.

At seven weeks of life, the patient developed cyanosis, with saturations lower than 70%. A cardiac catheterization was performed, revealing the following measurements: pulmonary valve annulus, 4 to 5 mm; main pulmonary artery, 5.1 mm; right pulmonary artery, 3.2 mm; and left pulmonary artery, 2.5 mm (Figure 3A). Right atrium mean pressure was 8 mmHg, right ventricle pressure was 62/6 mmHg and femoral artery was 55/38 mmHg. She underwent percutaneous placement of an RVOT stent (4.5 mm diameter by 12 mm SYNERGY XD Everolimus eluting stent, to minimize early in-stent restenosis) dilated to 20 atmospheres, attaining a diameter of 5.0 mm (Figure 3B). Propranolol was stopped. The patient was followed with biweekly echocardiograms, which reported no significant concern regarding the pulmonary artery dimensions, and the patient remained clinically stable. At 15 weeks of age, she had acute desaturation and was taken back to the catheterization laboratory. The proximal left pulmonary artery measured 1 mm (Figure 3C). The surgical team was consulted, and based on the patient's age and weight, the decision was made to address the left pulmonary artery stenosis surgically.

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Figure 3.

Catheterization at seven weeks of age (A) pulmonary arteries before stent placement and (B) pulmonary arteries immediately after stent placement, and (C) at 15 weeks of age. Black arrow = right pulmonary artery; Dashed arrow = left pulmonary artery; and asterisk = stent in the right ventricular outflow tract (RVOT)/main pulmonary artery. Note the hypoplastic left pulmonary artery.

She underwent surgical repair at 16 weeks of age with a weight of 4.4  kg. After the sternum was opened, a large portion of the liver was found to be within the pericardial space at the level of the main pulmonary artery and aorta, but was not adherent to the heart. Cardiopulmonary bypass was established. There was a large diaphragmatic hernia with a size of 8 by 10 cm, and the midline pericardium was absent on the diaphragmatic surface. The pericardium was harvested for cardiac repair, and the diaphragmatic hernia was repaired with a thick Gore-Tex patch. The RVOT stent was identified and removed. The main pulmonary artery was transected. A left pulmonary arterioplasty was performed. The malaligned VSD was closed via an RV infundibular approach with autologous pericardium. An 11-mm homograft was placed between the right ventricle and the main pulmonary artery. A 5-mm ASD was created.

Postoperative echocardiogram revealed no residual VSD or significant pulmonary stenosis. There was mild-to-moderate homograft valve regurgitation, laminar flow in the right pulmonary artery, and a left pulmonary artery velocity of 2 m/s. Sternal closure was performed on postoperative day 2. Subsequent postoperative recovery was uncomplicated.

Computed tomography evaluation four weeks after surgery showed an improved size of the left pulmonary artery and wide-open RVOT and main pulmonary artery. The omphalocele epithelialized with conservative management. The child was eventually able to tolerate oral feeds and was discharged home at 6.5 months of age.

Discussion

Pentalogy of Cantrell is a very rare congenital disorder, and the treatment and management are highly variable due to the wide spectrum of clinical presentations. Mortality rates in POC are associated with the severity of anomalies and are the highest when these involve the thorax and limbs. ³ The evidence is not well established for best practices, including the timing of interventions, neonatal resuscitation, palliative management, and surgical repair of the defects. There is a paucity of literature regarding management. This creates challenges for the surgeon, intensivists, and the entire management team. ⁴

The most widely accepted strategies favor early palliative management and delayed corrective operations. Evidence is lacking in regard to the ideal age to perform surgical procedures for best outcomes, and it is largely determined by the patient's clinical stability and the surgeon's clinical judgment. The corrective interventions can be multistage or single stage, but staged repair methods have been reported to reduce postoperative mortality. ⁶ Studies have reported RVOT stenting as a palliative procedure to improve outcomes in TOF patients but have rarely been reported in patients with POC. ⁷ Leaders in the field have suggested that 3 to 11 months is the optimal age for TOF repair, which has been our strategy; however, there are still no data regarding the optimal age for a patient with POC. ⁸ Studies have reported that intra-abdominal pressure is critical to cardiac postoperative recovery; elevated pressures may lead to cardiac decompensation, heart failure, and respiratory failure. ⁹ We believe that several patient characteristics contributed to the successful repair and postoperative recovery, including the absence of ectopia cordis, conservative management of the omphalocele to avoid an increase in intra-abdominal pressure, the fact that the patient was able to tolerate feeds before the surgery, and that she had a stable respiratory status after the RVOT stent. These factors contributed to the decision of a prolonged staged approach and to allow the patient to optimize nutrition and growth. Factors that could have adversely affected the outcome include the patient's age at surgery, the size of the diaphragmatic hernia, the size of the omphalocele, and the severe stenosis of the left pulmonary artery. Fenestrated VSD closure (with subsequent device closure) would have been considered if the pulmonary arterioplasty was particularly difficult or inadequate, which was not the case at surgery.

In summary, this article describes successful surgical repair of tetralogy of Fallot and a large congenital diaphragmatic hernia in a very young patient at 16 weeks of age with POC and a large omphalocele. Based on this experience, we recommend surgical repair as a part of staged management to attain a successful long-term result.