Pentalogy of Cantrell: Reconstructive Challenges of Two Complete Cases in a Resource-Constrained Setting

Abstract

Pentalogy of Cantrell (POC) is a very rare congenital anomaly and treatment has remained a challenge worldwide owing to extensive reconstructive surgeries, more so in resource-constrained settings. We, therefore, report two cases of complete POC. Both successfully underwent planned reconstructions by a multidisciplinary team. The techniques and challenges are hereby highlighted.

INTRODUCTION

Pentalogy of Cantrell (POC) is a complex congenital anomaly comprising supraumbilical abdominal wall defect, diaphragmatic defect, ectopia cordis, intracardiac defects, and sternal clefts. It was first described by Cantrell et al. in 1958.[1]

The clinical phenotype of this syndrome varies widely; hence, Toyama[2] classified the anomalies into three clinical groups: Class I – definite diagnosis with all five defects present, Class II – probable diagnosis with four defects present including intracardiac and ventral wall anomalies, and Class III - incomplete expression with various components of the defect present including sternal abnormality.

Treatment remains challenging and outcome has remained poor.[3] We, therefore, report two cases of POC who had single-stage thoracoabdominal wall repairs in a resource-constrained environment with good outcome. The techniques and challenges are highlighted.

CASE REPORTS

Case 1

Baby O U, a 3-day-old male, presented with anterior abdominal and chest wall defects from birth. Prenatal ultrasound detected no abnormality and delivery was per vaginam. He had a respiratory rate of 90/min, SpO₂ was 96%, and he weighed 3.3 kg. There was an anterior thoracoabdominal wall defect measuring 10 cm × 12 cm, pulsatile with the apex beat at the epigastrium. Only heart sounds 1 and 2 were heard.

Echocardiography showed small-sized secundum defect, mild-to-moderate left-to-right flow, mildly enlarged heart, absent pericardium, prominent coronal sinus, and primum atrial septal defect (ASD). Thoracoabdominal magnetic resonance imaging (MRI) revealed complete POC.

The defect was managed conservatively till 1 year when he had a repair [Figure 1a]. Additional findings were as follows: a 5 cm × 4 cm diverticulum arising from the right atrium and absent pericardium.

Figure 1.

(a) Preoperative: Thoracoabdominal ventral hernia at 1 year, (b) Intraoperative: Soft-tissue closure of the thoracic cavity reinforced with polypropylene mesh

The ventral hernia scar and atrial diverticulum were excised, and residual diaphragmatic tissues were attached to the edges of the costal cartilages and manubrium with 3/0 polyglactin 910. A left chest tube drain was placed and the defect reinforced with a polypropylene mesh [Figure 1b]. He did not require postoperative mechanical ventilation. He was discharged on the 8^th postoperative day and has been followed up for 1 year, and the ASD has closed on repeat echocardiography.

Case 2

Baby O C, a 6-h-old female, presented with upper abdominal and lower chest defects. There were bodily rashes and multiple limb abnormalities. The mother took herbal concoctions at the 6^th month of gestation. Prenatal ultrasonography was not contributory. Her respiratory rate was 99 cycles/min, SpO₂ was 97%, and she weighed 3.5 kg.

The defect measured 6 cm × 4 cm on the lower chest with the pulsating heart seen through a transparent membrane. Distal to this was a 4 cm × 4 cm skin-covered supraumbilical defect [Figure 2a]. The right hand had four digits, whereas the right foot had two digits, and there was syndactyly of the left 2^nd and 3^rd toes. The anus was anteriorly displaced and heart sounds 1 and 2 were heard. A diagnosis of POC, multiple limb anomalies, and cutaneous vascular malformations was made. Echocardiography done showed small-sized patent ductus arteriosus (PDA).

Figure 2.

(a) Preoperative photograph: Black arrow shows thoracoabdominal wall defect covered by a transparent membrane, white arrow shows supraumbilical skin covered defect, and blue arrow shows multiple vascular malformations, (b) Intraoperative photograph: Black arrow shows the dissected lower lip of the diaphragm being mobilized to be attached to the edges of the sternal defect and blue arrow shows the peritoneal cavity

Repair was carried out on the 4^th day of life. The transparent lower chest membrane was excised and the lower lip of the diaphragm was mobilized and sutured to the upper lip to close the heart, both hemisterni were apposed, and the anterior abdominal wall was closed with nylon 3/0 suture [Figure 2b]. She recovered from anesthesia without the need for mechanical ventilation and was discharged 18 days after. She has been followed up for 3 years now.

DISCUSSION

Both cases had the complete variant of POC according to Toyama[2] but differed in phenotypically. There was no prenatal diagnosis, and this is common in developing countries with resource constraints.[4] Prenatal diagnosis informs the route of delivery and operative intervention in a specialist center.[5,6] Postnatal diagnosis of POC is clinical; however, the details of composite anomalies are aided with ultrasonography, echocardiography, computerized tomographic scanning, and MRI.[3,4,7]

Case 1 had ASD, whereas case 2 had a PDA. Aside from this, the size and nature of their common anomalies also differed greatly. This agrees with the varying nature of the syndrome.[2,6,8] Case 2 in addition had other multiple anomalies.

The treatment of POC requires a multidisciplinary team approach and is often individualized. Prenatally, termination of pregnancy could be an option.[4] Postnatally, repairs could be single or multistaged, immediate, or delayed.[4,5,6,7,8] Case 1 had a repair at 1 year, whereas case 2 had an immediate repair on the 4^th day of life.

Our goal was to return the heart to the thoracic cavity, reconstruct the diaphragm, and to achieve thoracoabdominal wall closures. Our technique involved excision of the anterior abdominal wall skin and membrane as seen in cases 1 and 2, respectively, ligation of the right atrial diverticulum in case 1, mobilization of the vestigial remnants of the diaphragm supported by the peritoneum in both cases, and thoracoabdominal wall closure with polypropylene mesh reinforcement in case 1. Repairs with autologous tissues are preferred as in case 2. Rizwan et al.[6] undertook immediate neonatal repair with the use of mobilized skin flaps.

Staged repair with the use of polytetrafluoroethylene has also been used.[4] Mesh augmentation is a viable option where there are insufficient tissues for cover and to offer more strength to the anterior abdominal wall like in case 1. This has been employed in previous reports.[4,5,7,8] Arturo Leonardo et al.[8] augmented mesh repair and cutaneous flaps with resection of costal cartilages to be able to accommodate the heart within the thoracic cavity.

Outcome of POC has remained largely dismal.[2,5,6,8] Both cases in this report survived and have been followed up for 1 year and 3 years postrepair, respectively. This outcome may be due to the “favorable” variants of the composite anomalies and coordinated multidisciplinary approach to treatment.

CONCLUSION

Management of POC requires a coordinated multidisciplinary approach and should be individualized. Delayed surgery where applicable should be preferred in the more stable patients. This aids better preoperative planning and may allow time for some of the intracardiac anomalies to close spontaneously. This is recommended, particularly in a resource-constrained environment.

Consent

Consent was obtained from the parents.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the parents have given their consent for images and other clinical information to be reported in the journal. The parents understand that names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.