ORPHA:229
Familial aortic dissection
Also known as: Annuloaortic ectasia · Cystic medial necrosis of aorta
Publications
838
83.2th percentile
Trials
0
Interventional, condition-specific
Researchers
1,017
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Familial aortic dissection is the term used to describe rupture of the aortic wall at the level of the media, resulting in the formation of a false channel and deviation of part of the aortic flux. Familial predisposition to thoracic aortic aneurysms and type A dissections (concerning the ascending aorta and/or the aortic arch) has been demonstrated in around 19% of patients presenting with thoracic aortic dissections and several loci have been identified so far (16p12.2-p13.13, 3p24-25). This predisposition is transmitted in an manner.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0024559
- MeSH:C562834
- OMIM:607086
- UMLS:C0345050
Additional Mondo synonyms (1)
AAT1
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
838 matched papers (271 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
838
838 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
838 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
271 in the last 10 years · medium confidence · 83.2th percentile (publications denominator)
Phrase hits: 838 · MeSH hits: 0
Who's working on it?
1,017
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Okita Y7 papers · 2026
Division of Cardiovascular Surgery, Kobe University, Kobe, Japan yokita@med.kobe-u.ac.jp.
Papers in Europe PMC - 02Benke K6 papers · 2026
Heart and Vascular Center, Semmelweis University, Városmajor u. 68, Budapest, 1122, Hungary.
Papers in Europe PMC - 03Pólos M6 papers · 2026
Heart and Vascular Center, Semmelweis University, Városmajor u. 68, Budapest, 1122, Hungary.
Papers in Europe PMC - 04Szabolcs Z6 papers · 2026
Heart and Vascular Center, Semmelweis University, Városmajor u. 68, Budapest, 1122, Hungary.
Papers in Europe PMC - 05Ágg B5 papers · 2026
Heart and Vascular Center, Semmelweis University, Városmajor u. 68, Budapest, 1122, Hungary.
Papers in Europe PMC - 06Merkely B5 papers · 2025
Heart and Vascular Center, Semmelweis University, Városmajor u. 68, Budapest, 1122, Hungary.
Papers in Europe PMC - 07Tanaka H5 papers · 2023
Department of Cardiovascular Surgery, Hyogo Brain and Heart Center at Himeji, Himeji, Hyogo, Japan.
Papers in Europe PMC - 08Kobayashi K4 papers · 2023
Second Department of Surgery, Faculty of Medicine, Yamagata University, 2-2-2 Iida-Nishi, Yamagata, 990-9585, Japan. ki-kobayashi@med.id.yamagata-u.ac.jp.
Papers in Europe PMC - 09Radovits T4 papers · 2025
Heart and Vascular Center, Semmelweis University, Városmajor u. 68, Budapest, 1122, Hungary.
Papers in Europe PMC - 10Stengl R4 papers · 2026
Heart and Vascular Center, Semmelweis University, Városmajor u. 68, Budapest, 1122, Hungary. rolandstengl01@gmail.com.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 3 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Familial aortic dissection" OR "Annuloaortic ectasia" OR "Cystic medial necrosis of aorta" OR "Cystic medial necrosis of the aorta"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial aortic dissection" OR "Annuloaortic ectasia" OR "Cystic medial necrosis of aorta" OR "Cystic medial necrosis of the aorta" OR "familial thoracic aortic aneurysm and aortic dissection"
Recall-expansion terms: familial thoracic aortic aneurysm and aortic dissection
Study-type breakdown: 0 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: AAT1
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- "Familial aortic dissection" also appears on ORPHA:91387
Ingested 2026-07-26T12:58:41.728Z