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Understanding Ectopia Cordis: A Rare Congenital Heart Defect

Benjamin Seth Martinez | MD

Medically reviewed by Benjamin Seth Martinez | MD, Statpearls - Director of Clinical Content on May 12th, 2023.

Key Takeaways

  • This ultra-rare defect occurs in just 8 per million births when the sternum and pericardium fail to develop properly during the first 8 weeks of pregnancy, leaving the heart partially or completely exposed.

  • Four main types exist based on location: thoracic (most common at 60%), thoracoabdominal, abdominal, and cervical, with thoracic cases having the poorest survival rates.

  • Associated abnormalities occur in 80% of cases, including ventricular septal defects, tetralogy of Fallot, and diaphragmatic hernias, significantly complicating treatment outcomes.

  • Immediate surgical intervention within 24-48 hours focuses on protecting the exposed heart with temporary covering, followed by complex multi-stage reconstruction surgeries over months to years.

  • Overall survival rates remain extremely low at 10-15%, with complete thoracic cases having virtually no long-term survivors, while partial defects offer slightly better prognosis with specialized care.

Ectopia cordis is an extremely rare congenital heart defect where a baby is born with their heart partially or fully outside their chest. This condition affects only eight out of every one million babies and is often accompanied by other birth defects in the heart or abdominal area. While most babies with ectopia cordis are stillborn or die within three days of birth, there is hope for some affected infants.

What Causes Ectopia Cordis?

The exact cause of ectopia cordis is unknown, but experts have several theories. One theory suggests that physical changes during fetal development, such as fibrous bands restricting the amniotic sac or unusual chest development, may prevent the heart from moving into its normal position. Ectopia cordis is also commonly linked to defects in the:

  • Sternum (breastbone)

  • Pericardium (membrane covering the heart)

  • Abdominal wall

Additionally, chromosomal conditions like trisomy 18 and Turner syndrome have been associated with ectopia cordis. Recent research suggests that a lack of the BMP2 gene in some embryos may contribute to the development of this condition.

Symptoms and Diagnosis

The primary symptom of ectopia cordis is the heart being located outside the body. Babies with this condition often have other midline defects, such as:

  • Cranial cleft (split in the face shape)

  • Cleft lip or palate

  • Underdeveloped lungs

  • Scoliosis (curved spine)

  • Abnormal hole in the diaphragm

Ectopia cordis can be diagnosed during pregnancy through routine ultrasounds as early as the first or second trimester. If detected, additional imaging tests like MRI and echocardiography may be used to monitor the baby's development and help parents make informed decisions about the pregnancy.

Understanding Ectopia Cordis: A Rare Congenital Heart Defect

Treatment Options

Treatment for ectopia cordis typically involves a series of surgeries to place the heart inside the chest cavity and repair any associated cardiac defects. The surgical team will also work to close the open chest wall and return any external abdominal organs to their proper position. The success of these surgeries depends on the specific type of ectopia cordis and the presence of other complications.

In some cases, comfort care may be recommended to prevent and relieve suffering while providing a soothing environment for the baby. Families facing this difficult situation can find support through organizations like the March of Dimes Share Your Story website.

While the prognosis for babies with ectopia cordis remains guarded, advancements in medical care have allowed some affected infants to survive for weeks or even years. If you have concerns about this condition, consult with your healthcare provider for personalized guidance and support.

The Bottom Line

This devastating condition requires immediate neonatal intensive care and specialized cardiac surgery, though most cases result in early infant death despite medical intervention. Prenatal ultrasound can detect this defect as early as 18-20 weeks gestation. If abnormal fetal heart positioning appears on prenatal imaging, Doctronic can help you understand next steps and connect with specialists.

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