Living with Pulmonary valve agenesis
A rare heart difference present from birth in which the valve to the lungs is missing or partly missing.
Understanding Pulmonary valve agenesis
It comes with narrowing at the opening to the pulmonary artery and widened, balloon-like lung arteries. It usually occurs with other heart differences, like Tetralogy of Fallot or a hole between the lower chambers, or as part of a syndrome such as 22q11.2 deletion syndrome. GARD lists onset in the newborn or infant period.
Signs & symptoms
Symptoms vary depending on other heart differences. GARD describes these features:
- Leaky pulmonary valve (pulmonary insufficiency)
- Narrowed lung artery opening (pulmonary stenosis)
- Blocked airways from pressure of wide arteries
- Blue-tinged skin (cyanosis)
- Heart failure
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 heart and blood vessel specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- 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
GARD says it usually occurs along with other heart differences or as part of a syndrome, such as 22q11.2 deletion syndrome. It doesn't name a gene here.
Also known as: absent pulmonary valve syndrome; apvs - absent pulmonary valve syndrome; congenital absence of the pulmonary valve; pva
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 Pulmonary valve agenesis.
Explore research for Pulmonary valve agenesis
Explore actively recruiting Pulmonary valve agenesis studies with HealthSpark.
Find actively recruiting studies for Pulmonary valve agenesis with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Pulmonary valve agenesis studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Pulmonary valve agenesis
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Pulmonary valve agenesis experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.