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familial atrioventricular septal defect - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial atrioventricular septal defect

MONDO:0020290

Also known as:Atrioventricular Septal DefectAV septal defectAVCD

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Overview

A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves.

Clinical Trials1 registered

Diagnosis

Biomarker and diagnostic research for familial atrioventricular septal defect 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.

1 clinical trial registered. Interventions under study include drug therapy and medical devices. Pipeline includes 1 PHASE2. Research is primarily sponsored by academic and government institutions.

161 publications have been identified in PubMed for familial atrioventricular septal defect. Research spans Case Report / Case Series (41%), Clinical Trial Publication (26%), and Epidemiology / Natural History (13%).

Research Type	Count	% of Total
Patient case studies	66

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 11:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:98722

GARD

Genetic and Rare Diseases Info Center

GARD:802

Questions for Your Care Team

→Are any of the 1 active clinical trial 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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familial atrioventricular septal defect

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications