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aortic arch defects - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

aortic arch defects

MONDO:0015236

Overview

Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of this system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren.

ResearchLimited published research (7 articles)

Diagnosis

Biomarker and diagnostic research for aortic arch defects 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 aortic arch defects.

7 publications have been identified in PubMed for aortic arch defects. Research spans Basic Science / Preclinical (43%), Diagnostic / Biomarker (29%), and Case Report / Case Series (14%).

Recent Publications

Martin EMMA (2026). [PMID: 41621112](https://pubmed.ncbi.nlm.nih.gov/41621112/). *Differentiation*. [Basic Science / Preclinical]
Thomas T (2026). [PMID: 42227022](https://pubmed.ncbi.nlm.nih.gov/42227022/). *Development*. [Basic Science / Preclinical]
Othman T (2025). [PMID: 41295356](https://pubmed.ncbi.nlm.nih.gov/41295356/). *J Cardiovasc Dev Dis*. [Epidemiology / Natural History]
Amengual-Cladera E (2025). [PMID: 41226629](https://pubmed.ncbi.nlm.nih.gov/41226629/). *Int J Mol Sci*. [Basic Science / Preclinical]
Yan WF (2025). [PMID: 39557401](https://pubmed.ncbi.nlm.nih.gov/39557401/). *Eur Heart J Cardiovasc Imaging*. [Diagnostic / Biomarker]

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 3:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1132

GARD

Genetic and Rare Diseases Info Center

GARD:741

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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aortic arch defects

Overview

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team