Advertisement

What Is Ectopia Cordis?

Overview

Ectopia cordis is a rare genetic defect. During a baby’s development in utero, their chest wall doesn’t form correctly. It also doesn’t fuse together as it normally would. This prevents the heart from developing where it should, leaving it defenseless and exposed outside of the protection of the chest wall.

The defect affects about one in 126,000 births.

In partial ectopia cordis, the heart is located outside the chest wall, but just under the skin. The heart can be seen beating through the skin.

In complete ectopia cordis, the heart is situated totally outside the chest, without so much as a layer of skin to cover it.

This condition can include deformities of the chest (thorax), abdomen, or both. Often, ectopia cordis is also accompanied by defects of the heart itself.

The deformity can be seen on ultrasound by about the 10th or 11th week of pregnancy.

Treatment options are limited for this life-threatening condition. They depend on the severity of the deformities, as well as any additional abnormalities. However, surgical techniques to relocate the heart inside the chest are improving.

Continue reading to learn more about the potential complications and treatment challenges of ectopia cordis.

Advertisement
Advertisement

Complications

What are the possible complications of ectopia cordis?

When a child is born with ectopia cordis, their heart may be positioned completely outside their body. This means that their heart is unprotected and extremely vulnerable to injury and infection.

Ectopia cordis almost always involves additional problems with the structure of a child’s heart.

This can result in:

  • difficulty breathing
  • low blood pressure
  • poor circulation
  • low blood pH
  • electrolyte imbalance (dyselectrolytemia)

Most infants born with ectopia cordis have a variety of other medical problems too. This can include other abnormally developed organs.

Some of the potential complications include:

  • congenital heart defects and anomalies
  • cleft palate and lip
  • abdominal abnormalities and gastrointestinal defects
  • skeletal deformities
  • meningocele, a condition in which a sac of spinal fluid protrudes from the spinal column
  • encephalocele, a disorder in which spinal fluid, brain tissue, and brain membranes protrude from the skull

Causes and risk factors

What are some causes and risk factors for ectopia cordis?

Ectopia cordis happens because all or at least part of a child’s breastbone (sternum) fails to develop normally. Instead of closing up, the chest remains open. This happens very early on in embryonic development.

The exact reasons for this aren’t clear. It’s considered a random abnormality.

Some theories include:

  • chromosomal abnormalities
  • intrauterine drug exposure
  • rupture of fetal membranes (chorion) or yolk sac

Damage to the amniotic sac (amniotic band syndrome) may also be a cause. A rupture of the sac in early development can cause fibrous bands of amnion, the inner membrane of an embryo, to get tangled up with the embryo. This can impair development or cause deformities of the affected parts, including the heart.

A male fetus is more likely to develop ectopia cordis.

More research into the causes and risk factors for ectopia cordis is needed.

Advertisement
Advertisement
Advertisement

Treatment

Can ectopia cordis be treated?

If the mother never had an ultrasound or the deformity wasn’t visible, the condition is immediately apparent at birth.

Infants who survive birth with this condition require intensive care. This may include incubation and use of a respirator. Sterile dressings may be used to cover the heart. Other supportive care, such as antibiotics to prevent infection, is also needed.

In some cases, surgeons can attempt to relocate the child’s heart inside their chest and close their thoracic cavity. This type of surgery has many challenges, especially if the child has several severe defects.

Surgery is most likely to be approached in stages. During the initial operation, the heart must be repositioned and the chest wall defect must be covered. Surgeons can create a temporary closure with synthetic material.

Additional surgeries may be needed to repair any other heart or abdominal wall defects. Subsequent surgeries to reconstruct the chest wall can be performed using bone and cartilage grafts.

Through it all, the heart must be protected.

Outlook

What is the outlook?

The outlook generally isn’t favorable.

About 90 percent of fetuses with ectopia cordis are stillborn. Those who survive birth die within the first few days of life.

The outlook depends on the complexity of the deformity and whether there are additional heart defects or further complications.

In most cases, the only chance of survival is emergency surgery. Infants who do survive are usually those who had a normal, functioning heart with no defects other than developing outside the chest.

Survivors of the preliminary surgery will require a series of additional surgeries and lifelong medical care.

If you choose not to carry the fetus to term, termination is an option. Different states have different laws about how late into a pregnancy this can be done. In most cases, termination for health reasons is possible until the 24th week of pregnancy.

Advertisement
Advertisement

Survivor story

A rare story of survival

In 2015, doctors at Mayo Clinic successfully treated a newborn with ectopia cordis. The abnormality was discovered by a 20-week ultrasound, which enabled doctors to formulate a plan of action before birth.

The use of radiology helped them gauge the extent of the defects in advance. The doctors even had access to a 3-D model of the fetus in utero.

First, the fetus was partially delivered by caesarean birth. Then, while still connected to the umbilical cord, doctors worked to stabilize her heart and insert a breathing tube.

The procedure took place in a cardiac operating room with a full medical team at the ready. Five hours later, her heart was beating inside her chest.

The girl remained in intensive care for several months. During that time, she temporarily relied on a ventilator. She also had additional surgery to repair a heart defect.

At six months old, she reached normal development for a girl her age.

As surgical techniques improve, more babies may be expected to survive ectopia cordis.

Advertisement

Prevention

Is there any way to prevent it?

There’s no known prevention for ectopia cordis.

Getting prenatal care, including an ultrasound in the first trimester of pregnancy, may reveal the abnormality. That will give you time to consult with your doctors and understand your options.

This is a very sad diagnosis, and parents who lose their baby to this or any condition are encouraged to reach out to get support for their grief. There are hospice services for families who will inevitable lose their infant.

Losing a baby to miscarriage, stillbirth, or infant death is a unique grief that many people don’t understand. NationalShare.org is an example of an organization that will provide support and refer you and your family to local support groups as well as provide education and help to those who support you.

Families who’ve had a baby with this condition will be referred to genetic counselling to help make informed decisions about future pregnancies.

Learn more: Birth defects »

Article resources
Advertisement
Advertisement
Advertisement
Advertisement
Advertisement
Advertisement
Advertisement
Advertisement
Advertisement
Advertisement
Advertisement
Advertisement