What is Ectopia Cordis?

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Ectopia cordis is an extremely rare congenital heart malformation that remains very difficult to treat. The occurrence is 79 for every 10,000 births. In ectopia cordis, the heart forms outside the chest wall, so it’s not protected by the skin or breastbone. Other organs may also have formed outside the skin.
To further complicate this tricky presentation, the heart itself is usually formed improperly. It can have defects such as Tetralogy of Fallot, pulmonary atresia, atrial and ventricular septal defects or double outlet right ventricle, among others. Along with heart malformations, children with ectopia cordis may also have cleft palate. The spine can also be formed improperly, causing kyphosis, too large a C-curve in the thoracic spine.

There is some strong evidence that ectopia cordis may be related to Turner syndrome. Chromosomal abnormalities such as trisomy 18 have also been seen in some children with ectopia cordis. In general, however, there is no recognizable cause for this condition. In a way, this can be comforting for parents who have had a child with ectopia cordis. The condition is unlikely to recur in future children.

Unfortunately, most cases of ectopia cordis result in stillbirth or death shortly after birth. Some cases of ectopia cordis have been successfully treated, but this defect still represents the greatest challenge and failure rate for pediatric cardiothoracic surgeons.

Most cases of ectopia cordis are identified through routine prenatal ultrasound. When a case is suspected, the mother will be referred to a pediatric or fetal echocardiologist who will confirm the diagnosis. To give the baby the best chance of survival, the baby will be born in a level 3 hospital, where expert pediatric cardiologists and surgeons are on hand to address problems immediately. Delivery can be vaginal or cesarean, as directed by the high-risk obstetrician.

Parents who receive an early diagnosis of ectopia cordis have the option of inducing labor early or performing a therapeutic abortion. Parents who choose induced labor expect death, but they can find comfort in giving birth to a baby naturally, being able to see and hold that baby, and saying goodbye. Other parents prefer to end the child’s life without hugging or seeing him. They find this option less painful than continuing the pregnancy. This difficult decision should be weighed carefully with the help of an experienced counselor.

When parents choose to wait and see if their child can be treated, the success of treatment depends on the severity of other heart defects, as well as other related problems. In most cases, cardiothoracic surgeons attempt to repair heart defects before covering the heart and organs with prosthetic skin. Unfortunately, the valves leading to the heart, once replaced within the chest wall, can bend and cause death. An overwhelming number of birth defects in a child with ectopia cordis can also make repair impossible, and parents may simply choose to do nothing, called compassionate care, rather than subject their child to serious medical interventions with little hope of success.
Those parents who choose treatment can feel a sense of relief even when treatment fails. Treatment can give parents the feeling that they have done everything possible to save their child. Either way, the death of a child is a heavy emotional burden. Seeking help from organizations like Hospice and working with bereavement counselors can help with overwhelming feelings of loss over time.

While very rare, the treatment of ectopia cordis clearly needs more research to improve outcomes. Fetal surgery is still relatively new, but attempting repair before birth can be beneficial and this should be investigated for potential value.

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