Pentalogy of Cantrell with ectopia cordis: A rare case with review of literature

Abstract

Pentalogy of Cantrell (PC) is a rare congenital syndrome comprising five characteristic abnormalities that include midline anterior abdominal wall defect, sternal defect, diaphragmatic defect, defect in apical pericardium, and structural heart defect. The exact etiology of this syndrome is still unknown. However, many causative factors and association with other syndromes/aneuploidies (trisomy 18/trisomy 13) have been described in literature. Prognosis is often poor in cases with complete ectopia cordis with large defect. The postnatal surgical correction demands expert care in good resource settings. We are describing a rare case of severe form of PC with complete ectopia cordis and omphalocele, detected at 32 weeks of gestation. The patient had vaginal delivery of live female baby but unfortunately, the baby succumbed on day 2 of life. We are reporting this rare and fatal case to make health-care professionals more aware about importance of timely detection of such anomalies by anomaly scan in the second trimester before the period of viability so that the parents can make informed choice about termination of pregnancy in such lethal cases. Furthermore, the corrective surgeries can be planned beforehand with multidisciplinary approach in cases where affordability is not an issue for parents.