Double outlet right ventricle with subaortic or doubly committed ventricular septal defect

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Overview

Double outlet right ventricle with subaortic or doubly committed ventricular septal defect (DORV-subaortic VSD) is a rare congenital heart defect present from birth. In a normal heart, the aorta carries blood from the left ventricle to the body, and the pulmonary artery carries blood from the right ventricle to the lungs. In DORV, both of these major blood vessels arise from the right ventricle instead of their normal positions. The 'subaortic' or 'doubly committed' type refers to the location of a hole in the wall between the two lower chambers of the heart (the ventricular septal defect, or VSD). When the VSD sits just below the aorta or beneath both great vessels, it creates a specific pattern of blood flow that makes this subtype somewhat more surgically favorable than other forms of DORV. Because of the abnormal connections, oxygen-rich and oxygen-poor blood mix inside the heart. This means the body does not get enough oxygen, leading to symptoms like bluish skin color (cyanosis), rapid breathing, poor feeding, and slow growth in infants. The heart works harder than normal, which can lead to heart failure if not treated. Some children also have other heart defects alongside DORV, such as narrowing of the pulmonary artery. Treatment is surgical and is usually performed in infancy or early childhood. The goal of surgery is to redirect blood flow so that the left ventricle pumps oxygen-rich blood to the body through the aorta. With timely surgery and ongoing cardiac care, many children with this condition can lead active lives, though lifelong follow-up with a heart specialist is important.

Also known as:

Key symptoms:

Bluish or grayish tint to the skin, lips, or fingernails (cyanosis)Rapid or labored breathingPoor feeding or tiring easily during feedingSlow weight gain or poor growth in infancySweating during feeding or activitySwelling in the legs, abdomen, or around the eyesFatigue and low energyHeart murmur detected by a doctorFrequent respiratory infectionsReduced exercise tolerance in older children

Inheritance

Multifactorial

Caused by a mix of several genes and environmental factors

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Double outlet right ventricle with subaortic or doubly committed ventricular septal defect.

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No actively recruiting trials found for Double outlet right ventricle with subaortic or doubly committed ventricular septal defect at this time.

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No specialists are currently listed for Double outlet right ventricle with subaortic or doubly committed ventricular septal defect.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Double outlet right ventricle with subaortic or doubly committed ventricular septal defect.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.What is the exact anatomy of my child's heart defect and how does it affect blood flow?,When should surgery be performed and what type of repair is planned?,What are the risks of surgery and what is the expected recovery time?,Will my child need more than one surgery, and what might trigger the need for future procedures?,Should we have genetic testing to look for an underlying syndrome or chromosomal condition?,What activity restrictions should my child follow before and after surgery?,What signs should prompt me to call the doctor or go to the emergency room?

Common questions about Double outlet right ventricle with subaortic or doubly committed ventricular septal defect

What is Double outlet right ventricle with subaortic or doubly committed ventricular septal defect?

Double outlet right ventricle with subaortic or doubly committed ventricular septal defect (DORV-subaortic VSD) is a rare congenital heart defect present from birth. In a normal heart, the aorta carries blood from the left ventricle to the body, and the pulmonary artery carries blood from the right ventricle to the lungs. In DORV, both of these major blood vessels arise from the right ventricle instead of their normal positions. The 'subaortic' or 'doubly committed' type refers to the location of a hole in the wall between the two lower chambers of the heart (the ventricular septal defect, or

How is Double outlet right ventricle with subaortic or doubly committed ventricular septal defect inherited?

Double outlet right ventricle with subaortic or doubly committed ventricular septal defect 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 subaortic or doubly committed ventricular septal defect typically begin?

Typical onset of Double outlet right ventricle with subaortic or doubly committed ventricular septal defect is neonatal. Age of onset can vary across affected individuals.