Ectopia cordis and omphalocele: case report

Objective

Ectopia cordis is a rare anomaly with an incidence of 0.8/100000 births. As the heart can be located outside the thorax, it can be located also in cervical region due to a defect at the upper sternum or it can be also a part of Cantrell’s Syndrome. Intracardiac anomalies may be associated with ectopia cordis. Besides, abdominal wall defects, cranial or face abnormalities, cleft palate and lip, chromosomal anomalies may also accompany with ectopia cordis.

Case(s)

A 31 year old, primigravid pregnant woman was referred to our perinatology outpatient clinic with suspicion of fetal anomaly. Ultrasonographic examination revealed 11-12 week fetus. Anterior thoraco-abdominal Wall defect and extra-thoracic located heart were seen. Omphalocele sac with approximately 4 cm was also seen. The patient had no systemic disease. There was no evidence of tertogen exposure during the perinatal period. Family history was unremarkable; there was no newborn with structural or chromosomal anomaly. Karyotype analysis was triploidy. The perinatology council explained the prognosis of the anomaly and the couple wanted to terminate the pregnancy. Written and verbal informed consent were obtained from the couple and the pregnancy was terminated. Postabortal examination revealed that fetal heart was located outside the thorax with concominant omphalocele sac. Postmortem autopsy was not performed, because the family refused to have an autopsy.

Conclusion

The embryonic development of thorax and abdominal wall is completed at 8-9 gestational weeks. Any midline fusion defect during this period results in various anomalies ranging from ectopia cordis to complete viscreal evisseration. Ectopia cordis can be diagnosed with ultrasonography during early pregnancy. It ıs important, because termination of pregnancy should be offered to the couple due to poor prognosis.

Keywords

Ectopia cordis, omphalocele

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