Overview
Supravalvular pulmonary stenosis is a rare heart condition where the main pulmonary artery — the large blood vessel that carries blood from the heart to the lungs — is narrowed above the pulmonary valve. This narrowing is called 'supravalvular,' meaning it sits above (supra) the valve itself. The condition is also sometimes called supravalvular pulmonary artery stenosis or pulmonary artery narrowing. Because of this narrowing, the right side of the heart has to work harder than normal to push blood through to the lungs, where it picks up oxygen. Symptoms can range from very mild to more serious depending on how narrow the artery is. Some people have no symptoms at all, while others may feel short of breath, tire easily, or have a heart murmur detected by a doctor. In more severe cases, the extra strain on the heart can lead to right heart enlargement or heart failure over time. This condition can occur on its own or as part of a broader syndrome, most commonly Williams syndrome or Noonan syndrome. Treatment depends on how severe the narrowing is. Mild cases may only need regular monitoring by a cardiologist. More significant narrowing may be treated with a procedure called balloon dilation (where a small balloon is used to open the artery) or with surgery to widen the narrowed segment. In some cases, a stent (a small mesh tube) is placed to keep the artery open. With appropriate care, many people with this condition do well long-term.
Key symptoms:
Shortness of breath, especially during physical activityFeeling unusually tired or fatiguedHeart murmur (an abnormal whooshing sound heard through a stethoscope)Rapid or pounding heartbeatPoor weight gain or slow growth in infantsBluish tint to the lips or skin (cyanosis) in severe casesSwelling in the legs or abdomen in advanced casesFainting or dizziness during exerciseChest discomfort or pressureReduced ability to exercise or keep up with peers
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
1 eventData sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Supravalvular pulmonary stenosis.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →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 Supravalvular pulmonary stenosis.
Community
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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.How severe is the narrowing in my (or my child's) pulmonary artery, and does it need treatment now or just monitoring?,Should I (or my child) have genetic testing to look for an underlying syndrome like Williams or Noonan syndrome?,Are there any physical activities or sports that should be avoided?,How often do I need follow-up echocardiograms or cardiology visits?,What warning signs should prompt me to seek emergency care?,If a procedure is needed, what are the options and what are the risks of each?,Could other family members be affected, and should they be screened?
Common questions about Supravalvular pulmonary stenosis
What is Supravalvular pulmonary stenosis?
Supravalvular pulmonary stenosis is a rare heart condition where the main pulmonary artery — the large blood vessel that carries blood from the heart to the lungs — is narrowed above the pulmonary valve. This narrowing is called 'supravalvular,' meaning it sits above (supra) the valve itself. The condition is also sometimes called supravalvular pulmonary artery stenosis or pulmonary artery narrowing. Because of this narrowing, the right side of the heart has to work harder than normal to push blood through to the lungs, where it picks up oxygen. Symptoms can range from very mild to more serio
Are there clinical trials for Supravalvular pulmonary stenosis?
Yes — 1 recruiting clinical trial is currently listed for Supravalvular pulmonary stenosis on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Supravalvular pulmonary stenosis?
1 specialists and care centers treating Supravalvular pulmonary stenosis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.