Cuillier F, MD*, Avignon MS, MD**, Avignon A, MD***

* Department of Gynecology, Félix Guyon'Hospital, 97400Saint-Denis
** Gynecologist 
*** Radiologist  - Saint-Denis, Ile de la Réunion, France.

Definition: Ectopia cordis, ectocardia or exocardia, is a rare congenital defect, resulting in herniation of the heart through a sternal, pericardial and/or abdominal defect. It results from a defect in the fusion of the anterior chest wall. The pentalogy of Cantrell consists of defects involving the diaphragm, midline supra-umbilical abdominal wall defect, pericardium heart, lower sternum and congenital intracardiac abnormalities.

Case report: This is a 18-year-old woman, gravida 1, referred to our institution at 11 weeks for a suspected ectopia cordis and omphalocele. The course of pregnancy and family history were uneventful. Detailed scan revealed a 46 mm live fetus, with a biparietal diameter of 15 mm (equivalent to 11 weeks). An omphalocele measuring 10 X 12 mm, protruding from the anterior abdominal wall was detected. The nuchal translucency measured was 3 mm. The fetal heart was displaced into the anterior chest wall. The power Doppler was useful to confirm the diagnosis. Hands and feet were normal. Pentalogy of Cantrell was suspected. A chorionic villus sampling was performed. The karyotype was normal. After counseling, the parents opted for the interruption of the pregnancy at 12 weeks. The diagnosed was confirmed.

View of the embryo at 11 weeks

Note the abdominal wall defect

Note the heart outside the chest

3D view of the embryo showing the abdominal and thoracic wall defect

Postmortem view of the embryo

History: In 1958, Cantrell et al described a syndrome in which a anterior diaphragmatic hernia occurred in association with an omphalocele. Nowadays, diagnosis of ectopia cordis, occurring as part of Pentalogy of Cantrell has been classically described during the first trimester. Liang et all reported a case at 10 weeks. Mittermayer et al (2002) described one case diagnosed at 12 weeks. Cordoni et al (2002) described one case at 9 weeks and 5 days. Toyama suggested the following classifications for the Pentalogy of Cantrell:

• certain diagnosis: all five defects are present
• probable diagnosis: four defects including intracardiac and ventral abdominal wall
• incomplete with variable combinations of defects  (including a sternal abnormality)

Prevalence: approximately 0.1:10.000. No recurrence has been reported.

Etiology: Unknown.

Pathogenesis: The embryological defect has a mesodermal origin. The diaphragmatic and pericardial defects are closely related to either total or partial failure of the transverse septum to develop. The cardiac abnormalities result from faulty development of the epimyocardium. The sternal and abdominal wall defects represent faulty migration of these mesodermal primordial structures. The defects occur at day 14-18.

Sonographic findings: The sonographic features in our case included an ectopia cordis herniated into a supra-umbilical hepatic-omphalocele and seem to be a Pentalogy of Cantrell. The sternum appeared open and the heart was herniated below it.

Differential diagnosis:

•  Isolated ectopia cordis
•  Isolated abdominal wall defect
• Amniotic band syndrome
• Body stalk anomaly
• Limb body wall complex

Associated anomalies: Different chromosomal abnormalities can be associated. It is primordial to perform an amniocentesis (T13, T18, Turner Syndrome, etc). Fetal echocardiography is indicated to evaluate intra-cardiac and extra-cardiac abnormalities.

Prognosis: A certain diagnosis is important because of the poor diagnosis associated with Pentalogy of Cantrell.

Management: Elective termination of pregnancy before viability may be offered.

References:

1- Craigo S.D., Gillieson M.S., Cetrulo L.C.- Pentalogy of Cantrell. Craigohttp://wwwthefetus.net 1992-07-21-17.
2- Myer W.J., Gauthier D.W., Torres W., Donald W.- Heart, cordis ectopia. Meyer http://wwwthefetus.net 19991-11-01-18
3- Mittermayer C., Bernaschek G., Lee A.- Letters to the editor. Diagnosis of ectopia cordis with three dimensional power Doppler ultrasound in first–trimester pregnancy. Ultrasound Obstet Gynecol 2002 ; 20 : 203-8.
4- Siles C., Boyd P.A., manning N., Tsang T., Chamberlain P ;- Omphalocele and pericardial effusion : Possible sonographic markers for the Pentalogy of Cantrell or it svariants. Obstet Gynecol 1996 ; 87 : 840-2.
5- Zimmer E.Z., Bronshtein M.- early sonographic diagnosis of fetal midline disruption syndromes. Prenat Diagn 1996 ; 16 : 65-9.