Overview
Ectopia cordis is a rare birth defect in which a baby's heart is located partly or completely outside the chest. The name literally means 'out of place heart.' In a normal pregnancy, the chest wall forms around the heart to protect it. In ectopia cordis, the chest wall does not close properly during early development, leaving the heart exposed or displaced. The heart may be found on the surface of the chest, in the neck area, in the abdomen, or between the chest and abdomen, depending on the type. This condition is usually detected before birth through prenatal ultrasound. Babies born with ectopia cordis often have other serious birth defects as well, including problems with the heart itself (such as holes between heart chambers), defects in the abdominal wall, and abnormalities of the diaphragm or sternum (breastbone). A well-known associated condition is Cantrell's pentalogy, which combines ectopia cordis with several other midline defects. Ectopia cordis is a life-threatening condition that requires immediate medical attention at birth. Treatment involves complex surgery to place the heart back inside the chest and reconstruct the chest wall. Survival depends heavily on the severity of the displacement, the presence of other heart defects, and how quickly surgical care is provided. While outcomes have historically been very poor, advances in neonatal surgery and intensive care have improved survival for some patients, particularly those with less severe forms of the condition.
Key symptoms:
Heart visible or bulging outside the chest at birthExposed heart beating on the surface of the bodyMissing or incomplete breastbone (sternum)Defect or opening in the chest wallBluish skin color due to low oxygen (cyanosis)Difficulty breathingLow blood pressureRapid heart rateAbdominal wall defectsAdditional heart defects such as holes between heart chambersFeeding difficultiesPoor weight gainDiaphragm abnormalities
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Ectopia cordis.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Ectopia cordis at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Ectopia cordis.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Ectopia cordis.
Community
No community posts yet. Be the first to share your experience with Ectopia cordis.
Start the conversation →Latest news about Ectopia cordis
No recent news articles for Ectopia cordis.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What type of ectopia cordis does my baby have, and how severe is it?,Are there any additional heart defects or other birth defects present?,What is the surgical plan, and how many operations might be needed?,What are the realistic chances of survival and long-term outcomes for my child?,What kind of long-term follow-up care will my child need after surgery?,Are there any genetic tests we should consider to look for underlying causes?,What support services are available for our family during and after treatment?
Common questions about Ectopia cordis
What is Ectopia cordis?
Ectopia cordis is a rare birth defect in which a baby's heart is located partly or completely outside the chest. The name literally means 'out of place heart.' In a normal pregnancy, the chest wall forms around the heart to protect it. In ectopia cordis, the chest wall does not close properly during early development, leaving the heart exposed or displaced. The heart may be found on the surface of the chest, in the neck area, in the abdomen, or between the chest and abdomen, depending on the type. This condition is usually detected before birth through prenatal ultrasound. Babies born with ec
How is Ectopia cordis inherited?
Ectopia cordis follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Ectopia cordis typically begin?
Typical onset of Ectopia cordis is neonatal. Age of onset can vary across affected individuals.