Overview
Congenital anomaly of the great veins is a rare birth defect that affects the large veins in the body, particularly those that carry blood back to the heart. The great veins include the superior vena cava (which brings blood from the upper body to the heart), the inferior vena cava (which brings blood from the lower body), the pulmonary veins (which carry oxygen-rich blood from the lungs to the heart), and the hepatic veins. When these veins do not form correctly during fetal development, blood flow patterns can be disrupted, which may affect how well the heart and other organs work. Symptoms vary widely depending on which vein is affected and how severely. Some people may have no symptoms at all and the condition is found by accident during imaging for another reason. Others may experience breathing difficulties, swelling, bluish skin color (cyanosis), or heart-related problems. In some cases, the abnormal vein connections can lead to serious complications if blood is not routed properly through the heart and lungs. Treatment depends on the specific type and severity of the anomaly. Mild cases may only need regular monitoring, while more significant defects may require surgical correction or catheter-based procedures. Many patients do well after treatment, especially when the condition is detected early. A team of specialists including pediatric cardiologists and cardiac surgeons typically manages care.
Key symptoms:
Bluish skin color (cyanosis)Shortness of breath or difficulty breathingSwelling in the legs, abdomen, or faceFatigue or low energyPoor feeding in infantsFailure to thrive or poor weight gainHeart murmur detected by a doctorFrequent respiratory infectionsAbnormal heart rhythmsDizziness or fainting spellsEnlarged liverVisible swollen veins on the chest or abdomen
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Congenital anomaly of the great veins.
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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 Congenital anomaly of the great veins.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
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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 specific type of great vein anomaly does my child have, and how severe is it?,Will my child need surgery, and if so, when is the best time to do it?,What are the risks and expected outcomes of the recommended treatment?,How often will my child need follow-up appointments and imaging?,Are there any activity restrictions my child should follow?,Could this condition be part of a genetic syndrome, and should we consider genetic testing?,What warning signs should prompt me to seek emergency care?
Common questions about Congenital anomaly of the great veins
What is Congenital anomaly of the great veins?
Congenital anomaly of the great veins is a rare birth defect that affects the large veins in the body, particularly those that carry blood back to the heart. The great veins include the superior vena cava (which brings blood from the upper body to the heart), the inferior vena cava (which brings blood from the lower body), the pulmonary veins (which carry oxygen-rich blood from the lungs to the heart), and the hepatic veins. When these veins do not form correctly during fetal development, blood flow patterns can be disrupted, which may affect how well the heart and other organs work. Symptoms
At what age does Congenital anomaly of the great veins typically begin?
Typical onset of Congenital anomaly of the great veins is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Congenital anomaly of the great veins?
1 specialists and care centers treating Congenital anomaly of the great veins are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.