Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

familial thoracic aortic aneurysm and aortic dissection - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial thoracic aortic aneurysm and aortic dissection

MONDO:0019625

Also known as:Erdheim diseaseFTAADfamilial TAAD

Find Clinical TrialsTrials

Overview

A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.

OnsetADULT

Clinical Trials2 registered

ResearchLimited published research (9 articles)

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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.

2 clinical trials registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

9 publications have been identified in PubMed for familial thoracic aortic aneurysm and aortic dissection. Research spans Basic Science / Preclinical (33%), Review / Meta-Analysis (22%), and Case Report / Case Series (22%).

Recent Publications

El Hri H (2026). [PMID: 41689574](https://pubmed.ncbi.nlm.nih.gov/41689574/). *JACC. Case reports*. [Basic Science / Preclinical]
Atash A (2026). [PMID: 41891259](https://pubmed.ncbi.nlm.nih.gov/41891259/). *Eur J Clin Invest*. [Review / Meta-Analysis]
Jost ME (2026). [PMID: 41544301](https://pubmed.ncbi.nlm.nih.gov/41544301/). *JACC. Basic to translational science*. [Basic Science / Preclinical]
Sayama K (2025). [PMID: 41314713](https://pubmed.ncbi.nlm.nih.gov/41314713/). *JACC. Case reports*. [Case Report / Case Series]
Hossain AS (2025). [PMID: 39615636](https://pubmed.ncbi.nlm.nih.gov/39615636/). *Matrix biology : journal of the International Society for Matrix Biology*. [Basic Science / Preclinical]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 4:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:91387

GARD

Genetic and Rare Diseases Info Center

GARD:2249

Questions for Your Care Team

→Are any of the 2 active clinical trials 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?

← Back to All Diseases

familial thoracic aortic aneurysm and aortic dissection

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team