Overview
Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, and heterotaxy (sometimes abbreviated as DORV-AVSD with heterotaxy) is a rare and complex congenital heart condition. This means a child is born with several heart defects happening at the same time. In a healthy heart, the two main blood vessels — the aorta and the pulmonary artery — each connect to a different pumping chamber. In double outlet right ventricle (DORV), both of these large vessels connect to the right side of the heart instead of being split between the two sides. The atrioventricular septal defect (AVSD) means there are holes between the upper and lower chambers of the heart, and the valves between those chambers are also abnormal. Pulmonary stenosis means the valve or vessel leading to the lungs is narrowed, reducing blood flow to the lungs. Heterotaxy means the internal organs — including the heart — are not arranged in the usual left-right pattern in the body. Together, these problems cause the heart to work very inefficiently, mixing oxygen-rich and oxygen-poor blood and making it hard for the body to get enough oxygen. Babies with this condition often appear blue-tinged (a sign called cyanosis), breathe rapidly, feed poorly, and tire easily. Treatment requires open-heart surgery, often in stages, and lifelong follow-up with heart specialists. While this condition is very serious, advances in pediatric heart surgery have improved outcomes significantly over the past few decades.
Key symptoms:
Blue or purple tint to the skin, lips, or fingernails (cyanosis)Rapid or labored breathingPoor feeding and difficulty gaining weight in infancyExtreme tiredness or fatigue, especially during feeding or activitySwelling in the legs, belly, or around the eyesFrequent respiratory infections or pneumoniaHeart murmur detected by a doctorFainting or near-fainting spellsSlow growth and poor weight gain in babiesOrgans in unusual positions in the body (detected on imaging)
Multifactorial
Caused by a mix of several genes and environmental factors
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy.
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 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy.
Community
No community posts yet. Be the first to share your experience with Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy.
Start the conversation →Latest news about Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy
No recent news articles for Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy.
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 is the exact anatomy of my child's heart defects, and how does that affect the surgical plan?,How many surgeries will my child likely need, and what is the expected timeline?,Should we have genetic testing, and what does it mean for future pregnancies?,What signs should prompt us to go to the emergency room immediately?,What activity restrictions will my child have, and how might these change over time?,Are there developmental or learning challenges we should watch for, and what early support is available?,Which hospital or surgical center has the most experience with this specific combination of heart defects?
Common questions about Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy
What is Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy?
Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, and heterotaxy (sometimes abbreviated as DORV-AVSD with heterotaxy) is a rare and complex congenital heart condition. This means a child is born with several heart defects happening at the same time. In a healthy heart, the two main blood vessels — the aorta and the pulmonary artery — each connect to a different pumping chamber. In double outlet right ventricle (DORV), both of these large vessels connect to the right side of the heart instead of being split between the two sides. The atrioventricular septal
How is Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy inherited?
Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy typically begin?
Typical onset of Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy is neonatal. Age of onset can vary across affected individuals.