Living with Pulmonary atresia with ventricular septal defect
A rare heart difference present from birth, with a blocked lung valve and a hole between the lower heart chambers.
Understanding Pulmonary atresia with ventricular septal defect
It involves underdevelopment of the path from the right lower heart chamber to the lungs, a blocked pulmonary valve, a hole between the lower chambers (VSD), and extra blood vessels to the lungs. Signs depend on the exact pattern. Some people have few symptoms, some are very blue (cyanotic), and some develop heart failure. It may be a severe form of Tetralogy of Fallot.
Signs & symptoms
Symptoms vary from person to person. GARD describes these features:
- Blue-tinged skin (cyanosis)
- Heart failure
- Few symptoms in some people
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 dominant inheritance, meaning one changed copy of a gene is enough. It doesn't name a gene here.
Also known as: pavsd - pulmonary atresia with ventricular septal defect; pulmonary valve atresia with ventricular septal defect
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 ventricular septal defect.
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