Living with Supravalvar aortic stenosis
A heart defect present from before birth that narrows the large blood vessel leaving the heart, just above the aortic valve.
Understanding Supravalvar aortic stenosis
It develops before birth. The aorta is the large vessel that carries blood from the heart to the body. Some people also have narrowing in other blood vessels, most often the artery from the heart to the lungs. A heart murmur can often be heard. Without treatment, narrowing can lead to shortness of breath and chest pain. Severity varies a lot, even within a family, and some people never have symptoms.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Heart murmur
- Shortness of breath
- Chest pain (angina)
- Fainting spells
- Irregular heart rhythm
- High blood pressure (less common)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in ELN are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the ELN gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: supra-valvular aortic stenosis; supravalvar aortic stenosis, eisenberg type; supravalvular aortic stenosis; supravalvular aortic stenosis (disease); svas; svas - supravalvar aortic stenosis
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Supravalvar aortic stenosis.
Explore research for Supravalvar aortic stenosis
Explore actively recruiting Supravalvar aortic stenosis studies with HealthSpark.
Find actively recruiting studies for Supravalvar aortic stenosis with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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