Overview
Partial atrioventricular septal defect (partial AVSD), also known as partial atrioventricular canal defect or ostium primum atrial septal defect, is a congenital heart condition — meaning it is present from birth. In this condition, the wall between the upper chambers of the heart (the atria) has a hole in its lower portion, and one or both of the heart valves between the upper and lower chambers (the mitral and tricuspid valves) may be abnormally formed. This causes blood to flow in ways it should not, making the heart work harder than normal. Many people with partial AVSD have a leaky mitral valve, which means blood flows backward when the heart pumps. Over time, this extra workload can cause the heart to enlarge and the lungs to receive too much blood flow, leading to high blood pressure in the lungs (pulmonary hypertension). Symptoms can include shortness of breath, frequent respiratory infections, poor weight gain in infants, and fatigue. The good news is that partial AVSD is treatable. Surgery to close the hole and repair the valve is the main treatment and is often very effective, especially when done in childhood before permanent damage occurs. Most people who have surgery go on to live full, active lives, though lifelong follow-up with a heart specialist is important. Partial AVSD is closely associated with Down syndrome (trisomy 21), though it can also occur in people without chromosomal differences.
Also known as:
Key symptoms:
Shortness of breath, especially during activityFrequent lung or respiratory infectionsPoor weight gain or slow growth in babiesFatigue or tiring easilyHeart murmur detected by a doctorSwollen legs or abdomen (in more advanced cases)Rapid or irregular heartbeatBluish tint to the lips or skin (in severe cases)Reduced ability to exercise or playHigh blood pressure in the lungs (pulmonary hypertension)
Clinical phenotype terms (25)— hover any for plain English
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 Partial atrioventricular septal defect.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Partial atrioventricular septal defect at this time.
New trials open frequently. Follow this disease to get notified.
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 Partial atrioventricular septal defect.
Community
No community posts yet. Be the first to share your experience with Partial atrioventricular septal defect.
Start the conversation →Latest news about Partial atrioventricular septal defect
No recent news articles for Partial atrioventricular septal defect.
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.When is the best time for my child to have surgery, and what does the procedure involve?,Will my child need more than one surgery, and what are the chances of needing a valve repair or replacement later?,Should my child or I have genetic testing, and what does a positive result mean for other family members?,What activity restrictions should my child follow before and after surgery?,What symptoms should prompt me to go to the emergency room?,How often will my child need cardiology follow-up, and what will be monitored over time?,Are there any medications my child will need long-term, and what are their side effects?
Common questions about Partial atrioventricular septal defect
What is Partial atrioventricular septal defect?
Partial atrioventricular septal defect (partial AVSD), also known as partial atrioventricular canal defect or ostium primum atrial septal defect, is a congenital heart condition — meaning it is present from birth. In this condition, the wall between the upper chambers of the heart (the atria) has a hole in its lower portion, and one or both of the heart valves between the upper and lower chambers (the mitral and tricuspid valves) may be abnormally formed. This causes blood to flow in ways it should not, making the heart work harder than normal. Many people with partial AVSD have a leaky mitra
How is Partial atrioventricular septal defect inherited?
Partial atrioventricular septal defect follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Partial atrioventricular septal defect typically begin?
Typical onset of Partial atrioventricular septal defect is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Partial atrioventricular septal defect?
15 specialists and care centers treating Partial atrioventricular septal defect are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.