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Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot.
Features include: Ventricular septal defect and Pulmonary artery atresia.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Heart and blood vessels | 1 | Ventricular septal defect |
Lungs and breathing |
Biomarker and diagnostic research for pulmonary atresia with ventricular septal defect has been reported in the published literature.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for pulmonary atresia with ventricular septal defect.
45 publications have been identified in PubMed for pulmonary atresia with ventricular septal defect. Research spans Case Report / Case Series (33%), Clinical Trial Publication (19%), and Review / Meta-Analysis (16%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 14 | 33% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:03 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Pulmonary artery atresia |
Clinical study results
8 |
19% |
Research summaries | 7 | 16% |
Testing and diagnosis research | 6 | 14% |
Laboratory research | 3 | 7% |
Disease patterns and progression | 3 | 7% |
Other research | 1 | 2% |
New treatment approaches | 1 | 2% |
Pachwa A (2026). [PMID: 42004667](https://pubmed.ncbi.nlm.nih.gov/42004667/). *J Surg Case Rep*. [Case Report / Case Series]
Abdul Ghayum MA (2026). [PMID: 40848887](https://pubmed.ncbi.nlm.nih.gov/40848887/). *The Annals of thoracic surgery*. [Epidemiology / Natural History]
Mainwaring RD (2026). [PMID: 41679680](https://pubmed.ncbi.nlm.nih.gov/41679680/). *The Annals of thoracic surgery*. [Review / Meta-Analysis]
Callahan CP (2026). [PMID: 42092494](https://pubmed.ncbi.nlm.nih.gov/42092494/). *J Thorac Cardiovasc Surg*. [Other]
Kaemmerer-Suleiman AS (2026). [PMID: 41682971](https://pubmed.ncbi.nlm.nih.gov/41682971/). *Journal of clinical medicine*. [Diagnostic / Biomarker]
Song Y (2026). [PMID: 41966476](https://pubmed.ncbi.nlm.nih.gov/41966476/). *J Thorac Cardiovasc Surg*. [Clinical Trial Publication]
Egashira H (2026). [PMID: 42136564](https://pubmed.ncbi.nlm.nih.gov/42136564/). *Cardiol Young*. [Case Report / Case Series]
Abdelsalam S (2026). [PMID: 41641531](https://pubmed.ncbi.nlm.nih.gov/41641531/). *Circulation. Cardiovascular interventions*. [Basic Science / Preclinical]
McDonnell E (2026). [PMID: 41656856](https://pubmed.ncbi.nlm.nih.gov/41656856/). *Cardiology in the young*. [Review / Meta-Analysis]
Wang X (2026). [PMID: 40826929](https://pubmed.ncbi.nlm.nih.gov/40826929/). *Medical gas research*. [Case Report / Case Series]
AI-curated news mentioning pulmonary atresia with ventricular septal defect
Updated Feb 5, 2026
A new study presents a catheter-based approach for trans-collateral retrograde perforation of the right ventricular outflow tract in patients with pulmonary atresia and ventricular septal defect. This technique may offer a feasible alternative for treating these complex congenital heart defects.