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pulmonary atresia-intact ventricular septum syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pulmonary atresia-intact ventricular septum syndrome

MONDO:0009931

Also known as:pulmonary valve atresia with intact ventricular septumpulmonary atresia with intact ventricular septum

Find Clinical TrialsTrials

Overview

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.

GeneticsAutosomal recessive

Clinical Trials2 registered · 2 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Pulmonary artery atresia and Hypoplastic right heart.

Organ System	Phenotype Count	Example Features
Lungs and breathing	1	Pulmonary artery atresia
Heart and blood vessels

Diagnosis

Biomarker and diagnostic research for pulmonary atresia-intact ventricular septum syndrome has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

2 clinical trials registered, 2 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

62 publications have been identified in PubMed for pulmonary atresia-intact ventricular septum syndrome. Research spans Case Report / Case Series (29%), Review / Meta-Analysis (19%), and Clinical Trial Publication (18%).

Research Type	Count	% of Total
Patient case studies	18

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:37 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:265150

Orphanet

European rare disease database

Orphanet:1208

GARD

Genetic and Rare Diseases Info Center

GARD:4600

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 2 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

pulmonary atresia-intact ventricular septum syndrome

Overview

Clinical Presentation

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Trans-Collateral Retrograde Perforation of the RVOT in Pulmonary Atresia/Ventricular Septal Defect: A Feasible Catheter-Based Approach.

pulmonary atresia-intact ventricular septum syndrome

Overview

Clinical Presentation

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Trans-Collateral Retrograde Perforation of the RVOT in Pulmonary Atresia/Ventricular Septal Defect: A Feasible Catheter-Based Approach.