The Pentalogy of Cantrell: A Case Report

Ni Nyoman Anik Cindi Yuliastini,Kadek Deddy Ariyanta,I Made Kardana

doi:10.11648/j.ajp.20200603.25

Abstract

Pentalogy of Cantrell (PC) is a rare anomaly marked by the coexistence of omphalocele and ectopia cordis. Pentalogy of Cantrell comprises of the following five characteristics: midline, upper abdominal wall disorder (e.g. omphalocele, gastroschisis); defect of lower sternum (i.e. cleft sternum or absent sternum); anterior diaphragmatic defect (i.e. hypoplastic diaphragm, anterior diaphragmatic hernia); pericardial abnormality (e.g. ectopia cordis); congenital abnormalities of the heart (e.g. tetralogy of Fallot, ventricular septal defect, atrial septal defect). Toyama classified this syndrome into: class I – the occurrence of all 5 defects; class – II the occurrence of 4 defects with intracardiac and ventral abdominal wall abnormalities definitely present; class III – an incomplete expression of the disorders showing various combinations of defects, although sternal anomalies are definitely present. The incidence is estimated 5.5 – 7.9 per 1 million live births with male predominance. PC can be diagnosed since antenatal through ultrasonography examination. Unfortunately, the mortality rate is quite high with minimal survival rate even with surgical reconstruction. We present a case of one-day old infant whom was referred from West Nusa Tenggara with suspicion of PC syndrome and neonatal pneumonia. The baby was born through cesarean section with mild asphyxia, birth weight was 3000 gram and body length was 48 cm. There was no family and pregnancy risk factor. The multidisciplinary team consist of neonatologist, pediatric cardiologist and pediatric surgeon was teamed up to handle this case. There were some abnormalities in complete blood counts such as decreasing number of lymphocyte and neutrophil percentage and also increasing basophil percentage. Chest and abdominal X-ray showed a suspicion of pneumonia but this didn’t align with our physical examination. Echocardiography showed the infant had congenital heart defects such as Taussig Bing anomaly, single atrium, mild valvular pulmonary stenosis, mild tricuspid regurgitation and mesocardia. Genetic testing and further radiologic examination other than plain X-ray were not done in this case. There was no further intervention for this patient other than regular echocardiography and antibiotic topical treatment.

Highlights

Pentalogy of Cantrell (PC) is a rare anomaly and was first described in 1958 by James R Cantrell et al The components of the PC are defined as external herniation of heart, pericardial diaphragmatic defect, lower sternal defect, anterior diaphragmatic defect, intracardiac defect and malrotation of heart [1]
A male, one-day old baby was referred from West Nusa Tenggara district hospital to our emergency center in Sanglah Hospital in suspicion of PC syndrome with ectopia cordis, omphalocele and pneumonia
The pentalogy of Cantrell comprises of five characteristics such as: midline, upper abdominal wall disorder; defect of lower sternum; anterior diaphragmatic defect; pericardial abnormality; congenital abnormalities of the heart [1, 9]

Summary

Introduction

Pentalogy of Cantrell (PC) is a rare anomaly and was first described in 1958 by James R Cantrell et al The components of the PC are defined as external herniation of heart, pericardial diaphragmatic defect, lower sternal defect, anterior diaphragmatic defect, intracardiac defect and malrotation of heart [1]. Ni Nyoman Anik Cindi Yuliastini et al.: The Pentalogy of Cantrell: A Case Report ectopic cordis, the size of abdominal defect, concomitant defect and disorder [2, 1]. The prognosis of patient depends on the size of the abdominal wall defect, the type of ectopia cordis and the associated anomalies. Intracardiac abnormalities itself do not seem to influence prognosis but this is still doubtable [8] This patient was supervised by neonatologist, pediatric cardiologist and pediatric surgeon. Additional examination such as complete blood count, thorax-abdominal X-ray and echocardiography were done to examine the baby’s condition. Echocardiography was performed by pediatric cardiologist and found some intracardiac defects such as Taussig Bing anomaly, single atrium, mild valvular pulmonary stenosis, mild tricuspid regurgitation, and mesocardia

Case Report

Discussion

Findings

Conclusion