Pentalogy of cantrell: An extremely rare congenital anomaly

Abstract

A baby with the complete form of pentalogy of Cantrell was delivered at 33 weeks of gestation. The hallmark of this syndrome is ectopia cordis (EC) with omphalocele. Even though a fetal diagnosis was made at 14 weeks, parents have decided to continue with the pregnancy. Early antenatal ultrasonographic diagnosis is essential as survival depends mostly on the EC, associated cardiac anomalies and degree of thoraco-abdominal defect. Fetal diagnosis of this lethal anomaly before viability gives the parents an option of termination.

Class I pentalogy of Cantrell: a rare case report

“…Incidence of the absence of the pericardium is reported as 75% in the literature [9]. Sternum anomalies constitute bifid sternum (26%) or the absence of the lower 2/3 part of the sternum and 10% of patients do not have the xyphoid bone, like the case in our patient [9]. Besides these five cardinal anomalies, central nervous system anomalies such as cleft lip and palate, hydrocephaly, encephalocele or skeletal anomalies such as clubfoot and the absence of ulnae or radius, urinary system anomalies such as polysplenia have been reported in the publications as malformations accompanying the syndrome [10].…”

Ectopia cordis: a case report

“…The thoracoabdominal type is regarded as a distinct syndrome known as Cantrell´s pentology, which includes five associated anomalies: distal sternum defect; midline supraumbilical abdominal wall defect; ventral diaphragmatic hernia; defect of the apical pericardium with free communication into the peritoneal cavity; and congenital intracardiac defects. 5 The various clinical types of ectopia cordis have different prognoses. Cervical and thoracic ectopia cordis are usually fatal within days, because the heart is exposed and malformed.…”

Pentalogy of Cantrell and anaesthesia: a case report

“…2 There is a risk of hypothermia and fluid/electrolyte losses due to exposure of the heart and viscera. 4 Other anomalies may include: hydrocephalus 11 or anencephaly, 2 cleft lip/palate 11 with resultant potentially difficult airway, renal or skeletal abnormalities and sternal defects.…”

“…11 Monitoring for acute respiratory and cardiac failure is essential because of the potential for raised intra-abdominal pressure with reduction of the omphalocele 4 and resultant herniation of the reduced abdominal contents through the diaphragmatic hernia.…”