Children's Hospital Colorado

Ectopia Cordis

Ectopia cordis occurs when a portion or all of a baby's heart is located outside of the chest cavity. In true ectopia cordis, the heart almost always has internal abnormalities aside from just the abnormal location. At the Colorado Fetal Care Center, we work with expectant mothers and families to diagnose this severe cardiac defect.

For patients

Babies with ectopia cordis are born with their hearts partially or completely outside of their bodies. There are usually other organ structures that also develop abnormally. Ectopia cordis often coexists with additional heart defects as well as abdominal wall defects.

Types of ectopia cordis

There are four ectopia cordis classifications or “types” based on the position of the heart:

  • Cervical (3 percent of cases)
  • Thoracic (64 percent of cases)
  • Thoracoabdominal ectopia (18 percent of cases)
  • Abdominal ectopia (15 percent)

The type of ectopia cordis your child has can also depend on whether the heart is totally uncovered, covered by a serous membrane or covered by skin. Depending on the type of ectopia cordis, as well as the associated heart defects, our team will be better able to predict the outcomes and treatment options for your child after birth.

What causes ectopia cordis?

Ectopia cordis is extremely rare, affecting around one in 126,000 births. The cause of ectopia cordis is unknown, but males tend to be affected more often than females. There has not been a reported case of recurrence of ectopia cordis in a sibling.

What are the expected outcomes for a baby with ectopia cordis?

Unfortunately, the ectopia cordis survival rate is just 10%. Most babies born with hearts outside their bodies have severe intracardiac abnormalities are stillborn or die within the first few days of life. Those who survive require extensive surgeries and lifelong medical care delivered by a team of specialists.

For parents, receiving news that your baby has such a serious condition can be devastating. The Colorado Fetal Care Center is a national leader in diagnosing and treating ectopia cordis, and we are here to provide families with support throughout their time with us.

How is ectopia cordis diagnosed?

This condition is often diagnosed by ultrasound and can occur as early as the first trimester. If not discovered during pregnancy, it becomes obvious as soon as the baby is born.

Ectopia cordis treatment varies based on your child's specific needs. At the Colorado Fetal Care Center, we will consider your child’s condition before choosing the treatment options that will provide the best possible outcomes.

In utero options

When a baby is diagnosed with this severe birth defect in utero, the mother can opt to terminate the pregnancy, as the ectopia cordis survival rate is around 10%. There are currently no fetal interventions (surgery) options while the baby is in utero.

Post-birth surgery

Ectopia cordis treatment begins with emergency surgery after birth to place the heart inside the baby's chest and close the thoracic cavity. Additional operations entail building a sternum to protect the heart and repairing any additional heart or abdominal wall defects.

Throughout diagnosis and treatment, the staff at the Colorado Fetal Care Center provides families with support groups and other helpful resources in addition to cutting-edge medical care.

For healthcare professionals

Thoracic wall defects arise when part or all of the sternum fails to develop. These defects may involve only the sternum or may be associated with more severe anomalies. The most striking of these is ectopia cordis. Ectopia cordis is defined as a portion or all of the heart being located in an extrathoracic position. Ravitch (1985) has classified sternal defects into three major groups: cleft sternum without associated anomalies, true ectopia cordis and pentalogy of Cantrell.

Sternal defects are commonly associated with ectopia cordis. A spectrum of sternal defects also occurs without displacement of the heart (Skandalakis and Gray, 1994). In rare cases, segments of the sternum are absent. The xiphoid process is the sternal element most commonly absent. Byron (1948) reported a case in which only the manubrium remained. Martin and Helsworth (1962) reported a case of clavicles and upper ribs attached to an abnormally small manubrium separated from lower ribs attached to a sternum element. Complete absence of all sternal elements is rare, but has been reported, and can be successfully reconstructed (Asp and Sulamoa, 1961). In contrast to absent sternal elements, failure of sternal fusion may occur with wide separation of all sternal elements. This is most often seen with associated eventration of the heart. However, several cases have been reported with no herniation of thoracic viscera and intact skin covering the defect (Greenberg et al., 1991).

Superior sternal fusion occurs with a V- or U-shaped cleft in the upper sternum, with variable extension inferiorly even to the level of the xiphoid. Jewett et al. reported nine cases, all with skin covered defects and structurally normal hearts located within the chest cavity. Four of these cases had hemangiomas of the head and neck and a midline raphe indicating a midline fusion defect (Jewitt et al., 1962).

 Table 1

More than 200 cases of ectopia cordis have been reported in the literature (Skandalakis and Gray, 1994). Ravitch (1985) has classified ectopia cordis into four types based on the position of the heart: cervical (3%), thoracic (64%), thoracoabdominal ectopia (18%), and abdominal ectopia (15%). The heart was exposed in 40% of these cases or covered by a serous membrane (31%) or skin (27%) (Schao-Tsu, 1957).

It is important to distinguish true ectopia cordis from failure of sternal fusion in which the heart, though beating prominently beneath the skin-covered gap, is within the chest and is structurally normal. Many cases reported as thoracic ectopia with intact skin are more likely examples of isolated failure of sternal fusion.

“Thoracoabdominal ectopia cordis” is better known as the pentalogy of Cantrell and is in part a misnomer, given that the heart is not truly ectopic. In pentalogy of Cantrell, the heart is abnormally sited with the apex oriented down but is positioned within the chest and therefore not true ectopia cordis. Both cervical and abdominal ectopia cordis may occur without a sternal cleft. Abdominal ectopia cordis does not belong in this group of anomalies because the defect is diaphragmatic and does not involve the thorax or the anterior abdominal wall.

In true ectopia cordis, internal cardiac anomalies are generally the rule (Medina-Escobedo et al., 1991). Kanagasuntheram and Verzin (1962) suggested that the embryologic basis of ectopia cordis was excessive pericardial coelom formation and subsequent destruction of the transverse septum with rupture of the anterior body wall at 6 weeks of gestation. The frequency of major intrinsic cardiac defects in true ectopia cordis suggests that there may be a primary defect in the splanchnic mesoderm (Ravitch, 1985).

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