Prenatal Diagnosis of Ectopia Cordis in Honduras: Case Report

Abstract

Introduction. Ectopia cordis is an extremely rare congenital heart malformation, occurring in 5.5 to 7.9 per million live births. It is characterized by the anomalous position of the heart outside the thoracic cavity. We report a case of ectopia cordis with thoracic presentation due to its rare occurrence. Clinical Case. A 24-year-old primigravid Hispanic woman was referred at 32 weeks of gestation for a routine ultrasonography. Detailed ultrasonography revealed a singleton fetus with heart situated outside the thoracic cavity. No other abnormalities were detected. The findings were strongly suggestive of ectopia cordis. At 38 weeks cesarean delivery was performed receiving a full term neonate girl with ectopic heart in the chest. The sternum was entirely deficient, with an externally-visible beating heart over the chest wall. The abdominal wall was intact. Discussion and Conclusions. Ectopia cordis is a rare congenital heart defect defined by anomalous position of the heart outside the thorax associated to defects in pericardium, diaphragm and sternum. Usually, it is also associated to other intracardiac congenital heart defects. First trimester prenatal
diagnosis of ectopia cordis is feasible and can be performed at about the tenth week. Early surgical approach has provided the repositioning of the heart into the thoracic cavity. However, attempts at surgical correction have been largely unsuccessful. As this is considered a sporadic event, the recurrence risk is not increased over that of the general population.