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congenital total pulmonary venous return anomaly (TAPVR) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital total pulmonary venous return anomaly

MONDO:0007130

Also known as:TAPVRpulmonary venolobar syndrometotal anomalous pulmonary venous return

Overview

Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure.

GeneticsAutosomal dominant

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: Respiratory distress; and common findings: High blood pressure in lung arteries (pulmonary arterial hypertension), Cyanosis, Atrial septal defect, and Tachycardia and others. 41 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	13	High blood pressure in lung arteries (pulmonary arterial hypertension), Atrial septal defect, Tachycardia

Diagnosis

Biomarker and diagnostic research for congenital total pulmonary venous return anomaly has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 very common feature, 9 common features.

Estimated prevalence: 1-9 in 100,000 (Uncommon).

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 congenital total pulmonary venous return anomaly.

135 publications have been identified in PubMed for congenital total pulmonary venous return anomaly. Kisho has analyzed 91 by research type. Research spans Case Report / Case Series (46%), Epidemiology / Natural History (21%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Patient case studies	42	46%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:106700

Orphanet

European rare disease database

Orphanet:99125

GARD

Genetic and Rare Diseases Info Center

GARD:16896

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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Kisho

congenital total pulmonary venous return anomaly

Overview

Clinical Presentation

Diagnosis

Prognosis

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

Supracardiac Total Anomalous Pulmonary Venous Return With Extrinsic Compression of the Vertical Vein by the Left Pulmonary Artery: A Case Report.

congenital total pulmonary venous return anomaly

Overview

Clinical Presentation

Diagnosis

Prognosis

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

Supracardiac Total Anomalous Pulmonary Venous Return With Extrinsic Compression of the Vertical Vein by the Left Pulmonary Artery: A Case Report.