Living with Pulmonary atresia with intact ventricular septum
A rare heart difference present from birth in which blood can't flow normally from the heart to the lungs.
Understanding Pulmonary atresia with intact ventricular septum
The block is in the right ventricular outflow tract, and there is no opening between the two lower heart chambers. It ranges from a simple membrane blocking the valve with a normal-looking right ventricle, to a small right ventricle with unusual links to the coronary arteries. The main signs are a bluish color to the skin (cyanosis) and low oxygen. GARD lists onset during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Blue-tinged skin (cyanosis)
- Low oxygen levels (desaturation)
- Blocked lung artery (pulmonary artery atresia)
- Heart valve differences (tricuspid valve)
- An open vessel between the heart's main arteries (patent ductus arteriosus)
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 lists autosomal recessive inheritance, meaning a child inherits a changed copy of the gene from each parent. It doesn't name a gene here.
Also known as: paiv - pulmonary atresia with intact ventricular septum; pulmonary atresia-intact ventricular septum syndrome; pulmonary valve atresia with intact ventricular septum
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 atresia with intact ventricular septum.
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