Ectopia cordis is an extremely rare condition in which babies are born with their hearts partially or fully outside their bodies. It tends to go hand-in-hand with other birth defects in the heart or belly area.
Only eight of 1 million babies have ectopia cordis. And while most of them are either stillborn or die within 3 days after birth, there is reason for some hope. Health care teams that include doctors, nurses, occupational and physical therapists, and other specialists have helped some babies with ectopia cordis to live for weeks or even years.
For example, fibrous bands can appear on and restrict the amniotic sac, which surrounds the baby in the womb. Or the baby’s chest itself develops in an unusual way that stops the heart from moving down into its normal place, causing both ectopia cordis and other cardiac problems.
Ectopia cordis is also commonly linked to defects in the sternum (breastbone), pericardium (membrane that covers the heart), and abdominal wall as well as to chromosomal conditions such as trisomy 18 and Turner syndrome. One recent theory is that some embryos lack a certain gene called BMP2, and that makes it harder for the heart to form and the front of the baby’s chest to develop.
Ectopia cordis is defined by its main symptom: the heart being outside the body. Babies who have this condition often also have other “midline defects” (problems along the line going up and down in the center of the body, from the head to the groin), including:
- Cranial cleft (a split in the baby’s face shape)
- Cleft lip/palate (a split in the baby’s upper mouth)
- Lungs that are not fully developed
- Scoliosis (curved spine)
- Abnormal hole in the diaphragm (the muscle between the chest and abdomen)
If your baby has ectopia cordis, you might find out after a routine ultrasound as early as in your pregnancy’s first trimester or the beginning of your second trimester. You might need to have another round of ultrasound to help with diagnosis. These results are key in helping you decide how to proceed.
If you decide to continue with the pregnancy, your doctor will closely follow your baby’s development using a combination of magnetic resonance imaging (MRI) and echocardiography, a test that uses sound waves to create pictures of the heart.
Your doctor may refer to where the heart is located:
- Thoracic: above the abdomen near the ribs and breastbone (64% of ectopia cordis cases)
- Thoracoabdominal: lower down in the chest toward the abdomen (18% of ectopia cordis cases).
- Abdominal: in the lower half of the body (15% of ectopia cases).
- Cervical: back toward the spine (3% of ectopia cordis cases).
A diagnosis of ectopia cordis can be very stressful for families. For support and resources, try connecting with the nonprofit Birth Defect Research for Children and the Feingold Center for Children.
To help protect the baby, you’ll need to give birth by a C-section. Your baby may need extra help to breathe. Doctors may insert a flexible plastic tube into their windpipe to keep air flowing, and they also may give the baby a special liquid through that tube that coats the lungs, making sure they can take in oxygen well.
To treat ectopia cordis itself, the main goal of surgery is to close the open chest wall. The surgeon and health care team will also place the heart within the thorax and repair any other cardiac defects. Whether or not these surgeries can happen depends on the kind of ectopia cordis. Also, if the baby has intestines or abdominal organs outside of their body, the surgical team will insert these into the abdomen.
Surgeries are often done in several steps. The first challenge is to fit the heart into a smaller-than-normal chest cavity. After your baby’s doctor does this, they will fix the sternum. Heart transplants aren’t usually an option.
Other key things that affect treatment and outcomes are whether the heart is totally uncovered or if it’s covered by a serous membrane (the tissue that lines body cavities) or ordinary skin.
Your doctor may also offer “comfort care.” This special type of care aims to prevent and relieve suffering. It enables the baby to feel soothed and comfortable through the end of life. Your family can find support groups and others in similar situations through the March of Dimes’ Share Your Story website.