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congenital pulmonary valve stenosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital pulmonary valve stenosis

MONDO:0017865

Also known as:heart valve pulmonary stenosisvalvar pulmonary stenosisvalvate pulmonary stenosis

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Overview

Congenital pulmonary stenosis (PS) is a congenital heart malformation that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS).

Clinical Trials5 registered · 3 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 very common findings: Laryngeal stenosis; and common findings: Atrial septal defect. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	1	Atrial septal defect

Explore clinical features

Diagnosis

Biomarker and diagnostic research for congenital pulmonary valve stenosis has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 very common feature, 1 common feature.

Estimated prevalence: Unknown (Unknown prevalence).

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.

5 clinical trials registered, 3 recruiting. Interventions under study include medical devices, other interventions, and procedural interventions. Pipeline includes 4 NA. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT03983512](https://clinicaltrials.gov/study/NCT03983512)

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 8:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3189

GARD

Genetic and Rare Diseases Info Center

GARD:16623

Questions for Your Care Team

→Are any of the 5 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?

← Back to All Diseases

Research Type	Count	% of Total
Clinical study results	34	30%
Patient case studies	24	21%
Research summaries	18	16%
Disease patterns and progression	18	16%
Testing and diagnosis research	10	9%
Laboratory research	10	9%
New treatment approaches	1	1%

Kisho

congenital pulmonary valve stenosis

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

A rare mutation (p.Ala264Thr) of GATA4 is responsible for atrial septal defect and pulmonary valve stenosis.

congenital pulmonary valve stenosis

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

A rare mutation (p.Ala264Thr) of GATA4 is responsible for atrial septal defect and pulmonary valve stenosis.