Ectopia Cordis: Symptoms, Causes, Treatment

Ectopia cordis is a congenital heart defect in which the heart develops outside the chest cavity. First observed and recorded 5,000 years ago, it is a rare congenital disability affecting only one in every 126,000 births.

As the baby develops in the uterus, the heart, at least partially and sometimes completely, forms outside the chest cavity. A layer of skin or a thin membrane may cover the heart, or there may be no covering, leaving the heart open and exposed, with no protection from injury.

Over 80% of ectopia cordis cases are associated with other heart defects, such as double outlet right ventricle (DORV), and often with other organ or abdominal wall defects.

This defect tends to occur more in males than females, and there are no reported cases of a sibling developing the same condition.

Healthy heart function

In a healthy body, the heart and abdominal organs sit in the chest and abdominal cavities, and linings, bones, muscles, and skin cover them. These things form layers of protection for the heart and other organs from injury and infection.

The defect

In ectopia cordis, the heart forms outside the chest cavity. It may have only skin or a thin membrane covering it or be completely open and exposed.

Ectopia Cordis can be classified into five types, depending on where the heart forms outside the chest.

  • Cervical: up near the neck
  • Thoracic: over the chest, this is the most common location and also has the worst outcomes, less than 5% of infants survive past one month
  • Thoracoabdominal: between the chest and the abdomen
  • Abdominal: over the abdomen

Ectopia Cordis is also very often associated with other congenital heart defects.

The heart may be the only organ outside the body, or there may be more organs protruding with it (abdominal wall defects), most commonly an omphalocele. An omphalocele is a condition where abdominal organs form outside the abdomen and protrude through the muscle surrounding the umbilical cord opening (belly button).

Ectopia Cordis is sometimes part of the Petrology of Cantrell, a collection of five congenital malformations often found together:

  • Ectopia Cordis: the heart sits outside the chest cavity
  • Omphalocele: abdominal organs protrude from the abdomen, through and usually above the belly button
  • Diaphragmatic hernia: a hole in the diaphragm that allows abdominal organs to protrude into the chest cavity
  • Sternal cleft: the sternum (the bone in the middle of the chest) does not fuse properly and may be partially or entirely separated
  • Congenital heart disease: malformation of the heart's structure that is present at birth

Ectopia Cordis causes

Scientists and doctors do not entirely understand what causes ectopia cordis.

It is a congenital heart malformation. Congenital means it develops while the fetus forms in the uterus before birth.

Certain chromosomal abnormalities have been linked to ectopia cordis, as well.

Diagnosis

An ectopia cordis can be seen on a fetal ultrasound as early as the first trimester of pregnancy. However, the defect is evident at birth even if a doctor does not diagnose the condition during a fetal ultrasound.

Ectopia Cordis treatment

Most infants with ectopia cordis will be stillborn or die soon after birth, and there are currently no options for surgery before delivery.

The newborn will need intensive care right after birth.

The doctor will stabilize the heart and cover the exposed heart and other organs with saline-soaked gauze or plastic "drapes" to prevent infection and heat loss.

Emergency surgery will be necessary very soon after birth. Very often, the infant will need multiple surgeries.

With ectopia cordis, the chest cavity is small and does not have enough room for the heart. Therefore, a surgeon must place the heart into the chest cavity, rebuild the sternum and chest wall, repair any other heart or abdominal organ defects, and repair any abdominal wall defects. This whole process may take several surgeries to complete.

Prognosis

The outcomes for an infant with ectopia cordis are generally poor and depend primarily on the severity of the defects inside the heart and any other associated abnormalities.

Even with surgery, the survival rate is around 10%; those who survive will require life-long medical care.

Key takeaways

Ectopia Cordis is a severe but rare congenital heart defect. The heart, and sometimes other organs, form outside the chest cavity.

Usually, a doctor can diagnose the defect during a fetal ultrasound. However, the newborn will need intensive care immediately after birth and emergency surgery to replace the heart in the chest cavity very soon after birth.

Multiple surgeries are usually needed to repair the chest cavity and any associated heart and organ defects.

Life expectancy is poor, and few babies born with this condition survive infancy.

Resources

Fetal Health Foundation. Ectopia Cordis - Fetal Health Foundation

El-Feky, Mostafa. (2022). Ectopia Cordis | Radiology Reference Article | Radiopaedia.org

Shad, Jimmy, et al. (2012). Rare disease: Thoracic ectopia cordis - PMC (nih.gov)

Boston Children's Hospital. (2022). Ectopia Cordis (childrenshospital.org)

Children's Hospital Colorado. (2022). Ectopia Cordis | Children's Hospital Colorado (childrenscolorado.org)

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