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atrial septal defect, ostium primum type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

atrial septal defect, ostium primum type

MONDO:0020437

Also known as:ASD ostium primum typeASD, ostium primum typePAVC

Overview

Atrioventricular septal defect with communication at the atrial level only.

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 common findings: Mitral regurgitation, Thickened left heart wall (left ventricular hypertrophy), Palpitations, and Recurrent respiratory infections and others; and sometimes findings: Cyanosis, Syncope, Failure to thrive, and Congestive heart failure and others.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	16	Mitral regurgitation, Thickened left heart wall (left ventricular hypertrophy), Right ventricular dilatation

Diagnosis

Biomarker and diagnostic research for atrial septal defect, ostium primum type has been reported in the published literature.

Prognosis

Phenotype severity distribution: 17 common features.

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 atrial septal defect, ostium primum type.

102 publications have been identified in PubMed for atrial septal defect, ostium primum type. Kisho has analyzed 73 by research type. Research spans Case Report / Case Series (27%), Epidemiology / Natural History (27%), and Clinical Trial Publication (18%).

Research Type	Count	% of Total
Patient case studies	20	27%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 8:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:99106

GARD

Genetic and Rare Diseases Info Center

GARD:10695

Questions for Your Care Team

→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

atrial septal defect, ostium primum type

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

atrial septal defect, ostium primum type

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications