*Clínica Cordoni, Blumenau, SC; Hospital Santa Catarina, Blumenau, SC; Laboratírio CIPAC, Blumenau, SC, Clínica Materno-Fetal, Florianípolis, SC

Address correspondence to Giancarlo Cordoni (cordoni@netron.com.br ), Clínica Cordoni, Rua írico Hoffman 70, Blumenau, SC, 89020-050, Brazil.

Synonyms:   Thoraco-abdominal ectopia cordis, Ectopia cordis; Cantrell-Heller-Ravitch syndrome; pentalogy syndrome; peritoneopericardial diaphragmatic hernia.

Definition:   Pentalogy of Cantrell is a disorder characterized by: a midline, supraumbilical abdominal wall defect; a defect of the lower sternum; a deficiency of the anterior diaphragm, a defect in the diaphragmatic pericardium; and cardiac anomalies

Case report:  A 41-year-old patient, G4P0A3 presented for routine ultrasound at 9 weeks and 5 days.  The last abortion occurred 8 years prior to the index pregnancy and no specific causes for the three previous abortions were identified.

A 31 mm crown-rump length embryo with a large ventral wall defect was observed.  Ectopia cordis was detected in real time and documented with color Doppler.  Extruded abdominal contents were also observed surrounding the ectopic heart.  Nuchal translucency thickness measured 4.3 mm (Figure 1).  Pentalogy of Cantrell was strongly suspected, even though cardiac anomalies could not be seen at this early gestational age.

After counseling, the parents elected to terminate the pregnancy.  Three days after diagnosis abortion was induced with misoprostol 200 mg vaginally every six hours.  Fifteen hours after the first dose, the embryo and placenta were completely eliminated.  Histopathological examination of the abortion specimen confirmed ectopia cordis, as well as the abdominal and thoracic wall defects (the defects of the anterior diaphragm and diaphragmatic pericardium are part of the defects described). Intracardiac anomalies were not diagnosed prenatally nor confirmed at the postmortem examination because the embryo was too young for detection of heart defects.

Figure 1. Transvaginal ultrasound at 9 weeks and 5 days demonstrating the embryo with a large ventral wall defect.  The heart lying outside the thoracic cavity is clearly demonstrated by color Doppler.  Abdominal viscera can be visualized surrounding the fetal heart. Increased nuchal translucency thickness is also demonstrated

Figure 2. a) Frontal view of the abortion specimen confirming a large abdominal wall defect, and a defect of the lower sternum with ectopia cordis; b) lateral view of the abortion specimen; c) posterior view of the abortion specimen. Cranium was macerated during the abortion process.

Figure 3. a) Histological section showing interruption of the thoracic wall (*). b) Histological section showing interruption of the abdominal wall (+)

History: Pentalogy of Cantrell was described by Cantrell[i], in 1958

Prevalence:   from 1:100,000 to 1:200,000 births[ii].

Etiology:  unknown

Pathogenesis:   The constellation of defects observed in Pentalogy of Cantrell is thought to result from abnormalities in the differentiation of the intraembryonic mesoderm at approximately 14 to 18 days after conception.  The diaphragmatic and pericardial defects result from abnormal development of the septum transversum whereas the sternum and abdominal wall defects are probably related to impaired migration of mesodermal structures.

Sonographic findings: the association of ectopia cordis and an abominal wall deffect are the most obvious ultrasonographic findings. Cases with small defects of the lower sternum without obviuos herniation of the fetal heart should be more difficult to diagnose. According to Toyama[iv] (10), the diagnosis of Pentalogy of Cantrell is certain when all 5 defects are present, is probable when 4 defects are detected (including intracardiac and ventral abdominal wall abnormalities), and is incomplete when various combinations of defects are present, as long as a sternal abnormality is observed.

Differential diagnosis:  Differential diagnosis includes isolated ectopia cordis, amniotic band syndrome and body stalk anomaly. Isolated ectopia cordis, as the name implies, is not associated with abdominal wall anomalies.  In amniotic band syndrome, other bizarre anomalies involving the limbs, cranium, face, thorax, spine and perineum are frequently present and amniotic bands may be seen attached the ventral defect. Body stalk anomaly is characterized by a short umbilical cord, oligohydramnios and a usually excentric ventral wall defect with viscera adhered to the placenta.

First trimester prenatal diagnosis: and first trimester prenatal diagnosis has been previously reported (Table I)^,,,,,,.  The current case represents, to our knowledge, the earliest prenatal diagnosis of Pentalogy of Cantrell, at 9 weeks and 5 days.  The diagnosis was prompted by the findings of ectopia cordis and extruded abdominal contents in the amniotic fluid. Nuchal translucency thickness was also increased.

Table I. Prenatal diagnosis of Pentalogy of Cantrell during the first trimester

NTT: Nuchal translucency thickness

Prognosis:   high lethality rate for severe cases.  Successful surgery for milder forms have been described[xii]^{,[xiii],[xiv][xv]}.

Recurrence risk:  no recurrence for this condition has been reported

Management: pregnancy termination may be offered in the severe cases diagnosed prenatally.  Milder forms should be followed by a mutidisciplinary team, including perinatologists, pediatric surgeons and cardiologists in order to determine the best time for delivery.

References