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pulmonary valve agenesis (PVA) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pulmonary valve agenesis

MONDO:0020064

Also known as:PVAabsent pulmonary valve syndromecongenital absence of the pulmonary valve

Overview

Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424

Diagnosis

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

Prognosis

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.

No clinical trials have been registered for pulmonary valve agenesis.

172 publications have been identified in PubMed for pulmonary valve agenesis. Kisho has analyzed 91 by research type. Research spans Case Report / Case Series (54%), Review / Meta-Analysis (13%), and Epidemiology / Natural History (13%).

Research Type	Count	% of Total
Patient case studies	49	54%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 12:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:982

GARD

Genetic and Rare Diseases Info Center

GARD:4597

Questions for Your Care Team

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pulmonary valve agenesis

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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