Overview
Congenital systemic arteriovenous fistula (also called congenital systemic arteriovenous malformation) is a very rare condition present from birth in which abnormal connections form between arteries and veins in the body. Normally, blood flows from arteries through tiny capillaries before reaching veins. In this condition, blood bypasses the capillaries and flows directly from arteries into veins through one or more abnormal channels called fistulas. These abnormal connections can occur in various parts of the body and may affect how the heart and blood vessels work. Because blood takes a shortcut and bypasses the normal capillary network, the heart has to work harder to pump enough blood to the body's tissues. Over time, this extra workload can lead to heart enlargement and even heart failure, especially in newborns and infants. Symptoms can include a rapid heartbeat, difficulty breathing, poor feeding in babies, swelling, and visible or palpable pulsating masses. The severity depends on the size and location of the fistulas. Note that this Orphanet entry is marked as 'OBSOLETE,' meaning the classification may have been updated or merged into broader categories of arteriovenous malformations. Treatment options range from monitoring mild cases to surgical repair or catheter-based procedures (embolization) to close the abnormal connections. Early diagnosis and management are important to prevent complications such as heart failure.
Key symptoms:
Heart failure symptoms such as difficulty breathing and swellingRapid or pounding heartbeatPoor feeding in newbornsFailure to thrive or poor weight gain in infantsVisible or pulsating lump under the skinWarm skin over the area of the fistulaEnlarged heartBluish skin color in severe casesExcessive sweatingFatigue and low energySwollen veins near the fistulaA buzzing or humming sound (bruit) heard over the fistula
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 OBSOLETE: Congenital systemic arteriovenous fistula.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Congenital systemic arteriovenous fistula.
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 OBSOLETE: Congenital systemic arteriovenous fistula.
Community
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Caregiver Resources
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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.Where exactly are the arteriovenous fistulas located, and how large are they?,Is my child's heart being affected, and if so, how severely?,What treatment approach do you recommend — monitoring, embolization, or surgery?,How many procedures might be needed, and what are the risks of each?,Could this be part of a genetic syndrome, and should we pursue genetic testing?,What signs should I watch for that would require emergency care?,What is the long-term outlook, and how often will follow-up visits be needed?
Common questions about OBSOLETE: Congenital systemic arteriovenous fistula
What is OBSOLETE: Congenital systemic arteriovenous fistula?
Congenital systemic arteriovenous fistula (also called congenital systemic arteriovenous malformation) is a very rare condition present from birth in which abnormal connections form between arteries and veins in the body. Normally, blood flows from arteries through tiny capillaries before reaching veins. In this condition, blood bypasses the capillaries and flows directly from arteries into veins through one or more abnormal channels called fistulas. These abnormal connections can occur in various parts of the body and may affect how the heart and blood vessels work. Because blood takes a shor
At what age does OBSOLETE: Congenital systemic arteriovenous fistula typically begin?
Typical onset of OBSOLETE: Congenital systemic arteriovenous fistula is neonatal. Age of onset can vary across affected individuals.