From the Research
Ectopia cordis is caused by a developmental defect during embryonic formation where the heart forms outside the chest cavity, likely due to a combination of genetic and environmental factors, including a failure in the proper fusion of the lateral body wall folds during the third week of embryonic development. This rare congenital anomaly occurs in approximately 0.1% of congenital heart diseases 1. The exact cause remains unclear, but some research suggests chromosomal abnormalities may play a role, particularly trisomy 18, as well as gene mutations affecting early embryonic development 2. Environmental factors such as maternal exposure to certain medications, chemicals, or infections during pregnancy might also contribute. Ectopia cordis often occurs as part of pentalogy of Cantrell, a rare disorder involving multiple midline defects.
Some key points to consider about ectopia cordis include:
- The condition is extremely serious, with the heart being partially or completely outside the thoracic cavity, either exposed or covered only by a thin membrane, leading to significant complications including cardiac malformations, respiratory difficulties, and increased risk of infection 3.
- Common cardiac anomalies associated with ectopia cordis are ventricular septal defect, atrial septal defect, and tetralogy of Fallot 1.
- The possibility and efficacy of surgery in a surviving neonate depends on the degree of ectopia cordis, coexisting congenital heart defects, and extracardiac malformations 4.
- Despite significant improvements in neonatal and infant cardiac surgeries, operations for thoracoabdominal ectopia cordis carry an extremely high mortality, with only a few reported survivors of thoracic ectopia cordis 5.
Overall, ectopia cordis is a complex and serious condition that requires careful management and treatment to improve outcomes and reduce morbidity and mortality. The most recent and highest quality study, published in 2017, highlights the importance of early diagnosis and treatment, as well as the need for a multidisciplinary approach to care 2.