Pentalogy of Cantrell or One of its Variants

Paritosh C. Khanna, MD, DMRE; Alpa Bharati, MD; Suleman A. Merchant, MD, DMRD

Disclosures

October 31, 2005

Discussion

In both of these cases, imaging and autopsy findings of midline supraumbilical abdominal wall defects, defects in the pericardium, and defects of the lower sternum clearly indicate a diagnosis of pentalogy of Cantrell or one of its variants.

In 1958, Cantrell et al[1] described a syndrome in which a ventral (anterior) diaphragmatic hernia occurred in association with an omphalocele. This syndrome, called the pentalogy of Cantrell, consists of the following: A deficiency of the anterior diaphragm, a midline supraumbilical abdominal wall defect, a defect in the diaphragmatic pericardium, congenital intracardiac abnormalities, and a defect of the lower sternum. Few variants of this syndrome have been described.[1,2]

The association of sternal fusion defects with various cardiac, diaphragmatic, and anterior body wall defects represents a continuum of developmental anomalies that includes the pentalogy of Cantrell and ectopia cordis. Ectopia cordis (extrathoracic heart) is a rare malformation at the most severe end of the spectrum of anterior body wall defects involving sternal fusion abnormalities.[3]

This spectrum of defects is more appropriately categorized as a "midline developmental field complex" and, as such, is causally heterogeneous. Evidence for this heterogeneity is suggested by the occasional occurrence of this complex in chromosomal and other multiple malformation syndromes.[4]

Variants of the pentalogy of Cantrell have been described by Toyama.[2] The following classification for the pentalogy of Cantrell was suggested:

  1. Diagnosis certain if all 5 defects are present

  2. Diagnosis probable if 4 defects (including intracardiac and ventral abdominal wall) are present; and

  3. Diagnosis is incomplete if variable combinations of defects are present (always including a sternal abnormality).[2]

The embryologic defects responsible for the variety of abnormalities present in the pentalogy of Cantrell are of mesodermal origin. The diaphragmatic and pericardial defects are closely related to either the total or partial failure of septum transversum development, whereas the cardiac abnormalities result from the faulty development of the epimyocardium. The sternal and abdominal wall defects represent faulty migration of these mesodermal primordial structures. It is thought that these developmental abnormalities occur from approximately day 14 to 18 of embryonic life.[5] The failure of this process is believed to occur because of one or more of the following:

  1. Vascular dysplasias resulting in vascular steal phenomena.

  2. Mechanical teratogenesis by amnion rupture, tearing, and adhering; tissue band adherence causing pressure necrosis and incomplete morphogenesis; or mechanical compression secondary to rupture of the chorion or the yolk sac.

  3. Genetic mutation, either idiopathic or due to viral infection in the early first trimester or drugs given to the mother.[6] In the first case reported here, which included associated bilateral cleft lip and a midline cleft palate, we believe that this anomaly was due to a migration defect in the primordial mesoderm of the face, which accompanied the ventral body wall defects in the fetus.

Many other associations have been found with pentalogy of Cantrell, which include the following: Amniotic band syndrome with limb anomalies, structural cardiac defects with pericardial effusion, exencephaly, cystic hygroma, infraumbilical defects with cloacal and bladder exstrophy, and bilateral inguinal hernias. Concurrent structural and/or chromosomal abnormalities may complicate up to 50% to 75% of cases presenting with omphaloceles and, thus, they are indicators for antenatal invasive testing.[7,8] Omphalocele should be considered pathologic only if it persists beyond 14 weeks or if its maximum diameter exceeds 1 cm in the first trimester of pregnancy.[9,10] Few cases have been reported in which the pregnancy was continued until term and the fetus delivered by induction of labor. A number of corrective surgeries have been performed on such neonates for correction of defects, after which normal growth was achieved by the age of 2 to 3 years.

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