Class II pentalogy of Cantrell

Abstract

BackgroundPentalogy of Cantrell is a rare syndrome, first described by Cantrell and co-workers in 1958. The syndrome is characterized by the presence of five major congenital defects involving the diaphragm, abdominal wall, the diaphragmatic pericardium, lower sternum and various congenital intra-cardiac abnormalities. The syndrome has never been reported in Tanzania, although may have been reported from other African countries. Survival rate of the complete form of pentalogy of Cantrell is as low as 20%, but recent studies have reported normal growth achieved by 6 years of age where corrective surgeries were done; showing that surgical repair early in life is essential for survival.Case presentationThe African baby residing in Tanzania was referred from a district hospital on the second day of life. She was noted to have a huge omphalocele and ectopia cordis covered by a thin membrane, with bowels visible through the membrane and the cardiac impulse visible just below the epigastrium. Despite the physical anomaly, she appeared to saturate well in room air and had stable vitals. Her chest X-ray revealed the absence of the lower segments of the sternum and echocardiography showed multiple intra-cardiac defects. Based on these findings, the diagnosis of pentalogy of Cantrell was reached. On her fifth day of life, the neonate was noted to have signs of cardiac failure characterized by easy fatigability and restlessness during feeding. Cardiac failure treatment was initiated and she was discharged on parents’ request on the second week of life. Due to inadequate facilities to undertake this complex corrective surgery, arrangements were being made to refer her abroad. In the meantime, her growth and development was satisfactory until the age of 9 months, when she ran out of the medications and succumbed to death. Her parents could no longer afford transport cost to attend the monthly clinic visits, where the infant was getting free medication refill.ConclusionsThe case reported here highlights that in resource limited settings; poor outcome in infants with complex congenital anomalies is a function of multiple factors. However, we believe that surgery would have averted mortality in this 9-month-old female infant. We hope to be able to manage these cases better in future following the recent establishment of cardiac surgery facilities at Muhimbili National Hospital.

Complete and Incomplete Pentalogy of Cantrell

“…Prenatal diagnosis and careful assessment is essential for appropriate postnatal management [20,21]. A multidisciplinary team including pediatric surgery, cardiac and thoracic surgery is essential for optimal management [22,23,24,25,26]. It would be prudent to delay surgical interventions to a later date if hemodynamically stable and if enteral feeding can be fully established.…”

Ultrasonographic Diagnosis of Fetuses with Pentalogy of Cantrell and Turner Syndrome, Dual Case Reports and Review of Literature

“…Pentalogy of Cantrell can be detected by ultrasound as early as 10 weeks [4]. Common findings are omphalocele and ectopic cordis but must also include pericardial defect and an intra cardiac defect for the diagnosis [2].…”

“…The underlying pathophysiology of Pentalogy of Cantrell continues to be poorly understood but is thought to be related to defective formation and differentiation of the ventral mesoderm [3,4]. Most importantly, mesoderm failure results in cardiac defects, which are the major determinant for severity and prognosis, most commonly ventral septal defect [4,5].…”

“…Most importantly, mesoderm failure results in cardiac defects, which are the major determinant for severity and prognosis, most commonly ventral septal defect [4,5]. Pentalogy of Cantrell is divided into two classes; class one is complete malformation with the presence of all five defects and classes two contains only four defects [4].…”

Case of successful correction of defects in pentada Cantrell

“…Показатель выживаемости при полной форме синдрома всего около 20 %. Хирургическая коррекция пороков развития, составляющих симптомокомплекс пентады, в раннем возрасте повышает выживаемость детей с данной патологией [9,12].…”