Overview
Aorto-ventricular tunnel (also known as aortico-ventricular tunnel or aorto-left ventricular tunnel) is a rare congenital heart defect characterized by an abnormal channel (tunnel) that connects the ascending aorta to either the left or, less commonly, the right ventricle. This tunnel bypasses the aortic valve and creates a direct communication between the aorta and the ventricular chamber, resulting in significant aortic regurgitation (backflow of blood from the aorta into the ventricle). The condition is present from birth and primarily affects the cardiovascular system. Clinically, aorto-ventricular tunnel typically presents in the neonatal or early infantile period with signs and symptoms of volume overload on the heart, including a continuous or to-and-fro heart murmur, bounding pulses, heart failure, failure to thrive, tachypnea (rapid breathing), and feeding difficulties. If left untreated, the chronic volume overload can lead to progressive left ventricular dilation and dysfunction. The tunnel may also be associated with other cardiac anomalies, including abnormalities of the aortic valve or coronary artery origins. The primary treatment for aorto-ventricular tunnel is surgical repair, which is recommended as soon as the diagnosis is made, ideally in the neonatal or early infantile period, to prevent irreversible ventricular damage. Surgical closure of the tunnel, either by direct closure or patch repair of the aortic end of the tunnel, has shown good outcomes when performed early. In some cases, aortic valve repair or replacement may also be necessary. Long-term follow-up is essential, as late complications including aortic regurgitation and the need for reoperation can occur. Prognosis is generally favorable with early surgical intervention.
Clinical phenotype terms— hover any for plain English:
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 Aorto-ventricular tunnel.
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Specialists
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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 Aorto-ventricular tunnel.
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Common questions about Aorto-ventricular tunnel
What is Aorto-ventricular tunnel?
Aorto-ventricular tunnel (also known as aortico-ventricular tunnel or aorto-left ventricular tunnel) is a rare congenital heart defect characterized by an abnormal channel (tunnel) that connects the ascending aorta to either the left or, less commonly, the right ventricle. This tunnel bypasses the aortic valve and creates a direct communication between the aorta and the ventricular chamber, resulting in significant aortic regurgitation (backflow of blood from the aorta into the ventricle). The condition is present from birth and primarily affects the cardiovascular system. Clinically, aorto-v
How is Aorto-ventricular tunnel inherited?
Aorto-ventricular tunnel follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Aorto-ventricular tunnel typically begin?
Typical onset of Aorto-ventricular tunnel is neonatal. Age of onset can vary across affected individuals.