Ectopia Cordis: Types, Symptoms, Causes, Treatment and Complications

Overview

Ectopia Cordis (EC) is a rare genetic defect in which some or all of a baby’s heart is not covered by the breastbone. Instead, the heart lies beneath a layer of skin and appears to be outside the chest. Babies with Ectopia Cordis have a lower chance of survival. However, there are cases where doctors have successfully performed surgeries.

This blog is a comprehensive understanding of ectopia cordis, its causes, symptoms, treatment, and prevention.

What is Ectopia Cordis?

Ectopia Cordis is an extremely rare genetic defect in which the heart is abnormally situated either partially or entirely outside the chest cavity. Generally, the heart is located inside  the chest cavity between the lungs. However, in ectopia cordis, the heart forms partly or entirely outside the chest cavity. This condition can include abnormalities in the chest (thorax), abdomen, or both. In most cases, the heart protrudes outside the chest through the sternum (breast bone). This birth disorder is fatal in most cases, and newborn babies with this condition rarely survive for more than several hours or days.

Ectopia Cordis occurs if the chest wall does not fuse as it usually should during the baby’s development in the mother’s womb. The condition stops the heart from developing normally, leaving it exposed outside the chest wall.

In partial ectopia cordis, the heart is situated outside the chest wall but beneath the skin. Doctors can see the heart beating through the skin in babies with this condition. In complete ectopia cordis, the heart is entirely located outside the chest, with a thin layer of skin to cover it.

What are the types of ectopic cordis?

There are four types of ectopia cordis. It is classified based on the position of the heart. They are:

• Cervical
• Thoracic
• Thoracoabdominal ectopia
• Abdominal ectopia 

What are the symptoms of ectopic cordis?

Its main feature is  the heart being outside the body. Babies with this condition often also suffer other ‘midline defects’(problems along the line going up and down in the centre of the body, from the head to the groin). They include the following:

• Cranial cleft (a division in the shape of the baby’s face)
• Cleft lip/palate (a split in the upper mouth of the baby)
• Scoliosis (abnormal lateral curvature of the spine)
• Lungs that are not entirely developed
• An abnormal hole in the diaphragm

What are the causes of ectopia cordis?

More research is required to look into the possible causes of ectopia cordis. It is a congenital condition, which means that the condition develops in the womb and is present from the baby’s birth.

The sternum (also known as breastbone) is a long, flat bone that connects to the ribs and is the forepart of the rib cage, protecting the heart and lungs. When the breastbone does not develop properly in a fetus, the heart can develop outside the chest since the rib cage does not contain it.

Ectopia cordis can also appear, as part of a rare phenomenon called the pentalogy of Cantrell, in other parts of the body, like the abdominal wall and diaphragm, which have also not developed normally .

What are the complications of ectopia cordis?

If a baby is born with ectopia cordis, their heart is not protected. They are highly vulnerable to infection and injury. In most cases, ectopia cordis involves additional problems with the structure of a baby’s heart. It may lead to difficulty breathing, low blood pressure (BP), poor circulation, low blood pH, and electrolyte imbalance (dyselectrolytemia).

The majority of the babies that are born with ectopia cordis suffer from different medical problems that can include other abnormally developed organs. There are potential complications, including:

• Cleft palate and lip
• Congenital heart defects and anomalies
• Abdominal abnormalities and gastrointestinal defects
• Skeletal deformities
• Meningocele a congenital disability in which a sac of spinal fluid protrudes from the spinal column
• Encephalocele is a genetic disability where there is a sac-like protrusion or projection of the brain and the membranes that cover it via an opening in the skull

How is ectopia cordis treated?

Infants who survive birth with this condition need intensive care, and this may include incubation and the use of a respirator. The doctors can also use sterile dressings to cover the heart. Additional supportive care, such as antibiotics, is also required to prevent infection.

In some instances, the surgeons may attempt to relocate the baby’s heart inside their chest and close their thoracic cavity. To perform this type of surgery, the surgeons may face numerous challenges, especially if the baby suffers from several severe defects.

Doctors often perform the surgeries in stages. The surgeon would reposition the heart at the start of the surgery, and the chest wall defect must be covered. The surgeons may create a temporary closure with the help of synthetic material. Babies can require additional surgeries to repair other heart or abdominal wall defects. The doctors can use bone and cartilage grafts to perform successive surgeries to reconstruct the chest wall. The heart must be protected throughout the surgeries.

Conclusion

Women must undergo a neonatal scan in the first 12 weeks of pregnancy since it is critical in spotting a congenital condition, such as ectopia cordis. If a woman chooses to terminate the pregnancy, the doctor must support and provide advice on the termination of the pregnancy. Babies who survive preliminary surgery will need additional surgeries and lifelong medical care. Since the research and treatment options are continually improving, the outlook for infants diagnosed with ectopia cordis will hopefully improve over time.

Frequently Asked Questions (FAQs)

1. Is there any way to prevent Ectopia Cordis?

There’s no known way to prevent ectopia cordis. Receiving prenatal care and undergoing an ultrasound in the first trimester of pregnancy can reveal the abnormality giving the expectant parents an opportunity  to consult their doctors and understand the options.

2. How is Ectopia Cordis diagnosed?

Doctors can diagnose Ectopia Cordis with an ultrasound. It could occur as early as the first trimester. If the doctors do not discover ectopic cordis during pregnancy, it is visible as soon as the baby is born.

3. What is the rate of survival for babies with Ectopia Cordis?

 The survival rate for babies who suffer from Ectopia Cordis is about 10%.