If the rib cage of a developing fetus does not form properly, the heart can develop outside of the body without the protection of skin, muscle, and bone.
If a fetus survives until birth, immediate treatment to cover the heart or place it within the body can be life-saving but risky.
While there are cases of successful surgery, this remains a very serious condition with a low chance of survival.
What is ectopia cordis?
Ectopia cordis is usually identified and diagnosed during routine ultrasound scans.
"Ectopia" means an abnormal position of an organ and "cordis" is a Latin word for heart. So, ectopia cordis occurs when the heart is not in the right place in the body.
Ectopia cordis occurs in only 5.5 to 7.9 births in every million. As a fetus grows, the heart develops outside of the chest cavity.
It may be partial, with part of the heart still inside the chest, or complete, with the heart entirely outside of the chest. Often, the heart has other defects.
There are four main positions in which the heart can develop in an infant with ectopia cordis:
- in 60 percent of cases, it is immediately outside of the chest
- in 15–30 percent of cases, it develops in line with the belly
- in 7–18 percent of cases, it is between the chest and the belly
- in less than 3 percent of cases, it develops in line with the neck
What causes ectopia cordis?
More research is needed into the possible causes of ectopia cordis. It is congenital, meaning that the condition develops in the womb and is present from birth.
The breastbone or sternum is a long, flat bone that connects to the ribs and forms the front part of the rib cage, protecting the heart and lungs. If the breastbone fails to develop properly in a fetus, the heart can develop outside of the chest because it is not contained by the rib cage.
The condition may also appear as part of a rare phenomenon known as the pentalogy of Cantrell, in which other parts of the body, such as the belly and diaphragm, have also not developed in the correct place.
Medical professionals will provide impartial advice on all avilable treatment options and the risks involved.
The heart of a fetus starts to develop very early in pregnancy, with the bones beginning to form shortly afterward.
The heart should begin to beat steadily during the first few weeks of fetal development, and the rib cage will form to enclose the heart during the first trimester or the first 12 weeks of pregnancy.
Routine ultrasound scans carried out during the early stages of pregnancy usually detect ectopia cordis.
In the unlikely event that ultrasound does not detect ectopia cordis, the condition will be evident at birth.
Possibilities for treatment are better if any problems with the fetus' development are discovered during pregnancy because doctors can plan for emergency care immediately after the birth.
Is treatment possible?
The survival rate for ectopia cordis is around 10 percent, with most instances of the condition resulting in a stillbirth. Most infants that survive birth will unfortunately die within hours or days.
Being able to detect the condition early in pregnancy can be an advantage. If the heart is otherwise healthy, the chance of successful treatment is higher.
Outside of the body, the heart has no protection from disease or damage, so treatment will need to begin immediately after birth. The infant will usually be placed on a ventilator, which moves air in and out of the lungs to provide oxygen, as they are unlikely to be able to breathe on their own.
If there is room for the heart inside the chest cavity, surgeons will carry out emergency surgery to replace the heart inside the body. Often, the fetus has developed without enough room inside the chest, so the heart may need to be covered by a skin graft or an external heart shield.
As ectopia cordis often develops alongside other medical conditions, surgeons may also need to carry out additional corrective procedures at this stage.
It is likely that a newborn with ectopia cordis will need to spend considerable time in the hospital. Doctors will monitor their health and development, and the chances are that further care and surgery will be required.
As their heart is not as strong as other people's, those infants who survive ectopia cordis may not be able to take part in strenuous physical activity. They may also experience problems or delays in mental development.
Survivors may be unable to breathe unaided and could face further medical problems, particularly as the condition is often associated with heart defects. Follow-up procedures, such as surgery to close the chest cavity, can be dangerous or fatal.
Emergency surgery is usually carried out immediately after birth.
In 2017, a study looked at 17 cases of ectopia cordis at two medical centers between 1995 and 2014. It found that six children aged between 1 and 11 were surviving, though two of them were dependent on ventilators for breathing.
A 2013 blog post from the Texas Children's Hospital celebrates a baby born with ectopia cordis who survived surgery and celebrated her first birthday. At the time, an external shield protected her heart. The external shield will be replaced by one inside her chest when possible.
A 2015 study looking at the situation of an 11-year-old boy who had successful surgery to cover his heart as an infant, found that he had a generally good quality of life, was able to engage in sports, and could attend a school for children with special needs.
With medical advances, doctors hope that this survival rate will improve.
Having a neonatal scan in the first 12 weeks of pregnancy is key to spotting a congenital condition, such as ectopia cordis. If a choice is made to terminate the pregnancy, a medical professional should give support and impartial advice on abortion.
The pregnant woman may also be given the choice of comfort care or immediate surgery following the birth if she chooses to carry the baby to full-term. This decision may be affected by the severity of any underlying heart defects found before or after birth.
Ectopia cordis will often result in stillbirth or neonatal death. Organizations such as the American Pregnancy Association can provide emotional support and guidance for people during this difficult time.
Surviving ectopia cordis presents further challenges, including surgery and ongoing medical needs. However, research and treatment options are continually improving, so the outlook for infants diagnosed with ectopia cordis will hopefully improve over time, too.