Pentalogy of Cantrell is a rare type of abdominal wall defect characterized by the association of five distinct anomalies: (1) a defect of the abdominal wall such as a hernia or omphalocele, (2) a defect in the sternum, which is the long, flat bone in the center of the chest that connects the ribs, (3) a congenital diaphragmatic hernia, (4) a defect of the membranes around the heart, and (5) cardiac malformations such as ventricular septal defect. The incidence rate is estimated to be 5.5 per 1 million live births.
Not every case has all five anomalies present. There are three classes of Pentalogy of Cantrell: Class 1, in which the diagnosis is certain, and all five defects are present, Class 2, in which the diagnosis is likely, and four defects are present, and Class 3, in which the diagnosis is incomplete, and there are varying combinations of defects. Pentalogy of Cantrell is a distinct diagnosis from ectopia cordis.
Some cases of pentalogy of Cantrell have additional associated anomalies such as abnormalities of the spine and hands, amniotic band syndrome, anencephaly, omphalocele, pulmonary agenesis, single umbilical artery, and anomalies of the head and face such as cleft lip, cleft palate, and encephalocele.
The prognosis for this condition ranges, depending on the severity of the cardiac defects and other fetal anomalies. Pentalogy of Cantrell has a preterm delivery rate of 26-65% and a rate of intrauterine growth restriction ranging from 6 to 35%. Polyhydramnios is also associated with this diagnosis.
Pentalogy of Cantrell is considered a sporadic defect, meaning that it is not typically associated with chromosomal abnormalities; however, it has been associated with trisomy 13 and trisomy 18. Fetal karyotyping and further genetic testing is recommended to determine recurrence risk.