pulmonary atresia-intact ventricular septum syndrome
Findings
No curated finding names pulmonary atresia-intact ventricular septum syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation.
Definition from the Mondo Disease Ontology (MONDO:0009931), read 2026-09-29. CC BY 4.0.
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal tricuspid valve morphologyHPOHP:0001702
- Very frequent (80% to 99% of cases)
- Pulmonary artery atresiaHPOHP:0004935
- Very frequent (80% to 99% of cases)
- Patent ductus arteriosusHPOHP:0001643
- Frequent (30% to 79% of cases)
- Premature birthHPOHP:0001622
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: pulmonary atresia-intact ventricular septum syndrome
- Also called
- pulmonary valve atresia with intact ventricular septum