Ectopia cordis is an extremely rare condition where the baby is born with his or her heart located outside of the chest. The baby can have either complete ectopia cordis or partial ectopia cordis. Complete ectopia cordis occurs when the heart is uncovered and entirely outside of the chest. Partial ectopia cordis is when the heart is partially covered, but the beating heart can be seen through the skin. This condition is estimated to affect around 1 in 126,000 births. About 90% of babies with ectopia cordis are either stillborn (die within the womb) or die within the first few days after birth. This condition can be diagnosed by ultrasound as soon as the first trimester of pregnancy.
The severity of the condition is dependent on many factors, including the location of the heart and any other birth defects that the baby has. The heart of a baby with ectopia cordis can be found in different locations along the baby’s body, including the neck, chest, or abdomen. Ectopia cordis often involves a defect where parts of the chest wall did not form properly, or the breastbone did not fuse together. Normally, your heart is enclosed within your chest wall and is surrounded by your ribs. The ribs connect to your breastbone, keeping your heart enclosed and protected from injury.
The exact causes of ectopia cordis are unknown. Some reports have associated this condition with chromosomal abnormalities, such as Turner’s syndrome and trisomy 18. Another theory is the amniotic rupture theory, which states that during the very early stages of pregnancy, the sac that surrounds the embryo bursts, causing stringy and sticky pieces to become entangled with the embryo. This may interfere with development or cause defects in parts of the baby, such as the heart. Other theories suggest that there may be abnormalities in the embryo during very early development.
After delivery, babies with ectopia cordis are at risk for many complications. If the heart is located outside of the chest, it is extremely vulnerable to injury, infection, and dehydration. The heart frequently has internal abnormalities beyond simply being located outside of the chest. Problems with the proper functioning of the heart can cause the baby to have low blood pressure, poor circulation, and difficulty breathing. Often the baby will have defects in other organs, such as the liver or intestines.
Some other abnormalities found in babies with ectopia cordis may include:
- Defects in the heart
- Encephalocele (birth defect involving the brain)
- Cleft lip/palate (birth defect in the lip or mouth)
- Hydrocephalus (fluid buildup in the brain)
- Craniorachisis (defect where both the brain and spinal cord remain open)
- Limb defects
- Defects in the digestive system
Ectopia cordis is a life-threatening condition. Immediately after birth, newborns require intensive care because their condition quickly deteriorates. They require resuscitation to maintain normal breathing. The heart must be covered with gauze pads soaked in saline (salt water) to prevent drying and heat loss. Antibiotics are often given to prevent infection. Surgery is needed to correct the condition and offers the only chance at survival. During surgery, defects in the chest wall or breastbone must be corrected before moving the heart into the appropriate place. The surgeon will also repair any other defects in the heart or other organs if they are present. Skin grafts (transplanted skin) may be necessary to cover the area. Many babies still die after surgery. Babies with the highest chances of survival usually have a normal functioning heart and no other organ defects. If surgery is successful, several additional surgeries will be required, and the baby will need lifelong medical care.
If ectopia cordis is detected early in pregnancy, surgeons can plan and prepare for the surgery to increase the chances of survival. In 2015, doctors at the Mayo Clinic successfully performed surgery on a newborn baby with ectopia cordis. Another baby with ectopia cordis recently survived surgery in the United Kingdom. With new advancements in medicine, doctors are optimistic that more babies with ectopia cordis will survive surgery and that the outlook of this devastating condition will improve.