ORPHA:91387

Familial thoracic aortic aneurysm and aortic dissection

medium confidenceDisorder

Also known as: FTAAD · Familial TAAD · Familial non-syndromic thoracic aortic aneurysm and aortic dissection · Hereditary TAAD · Hereditary thoracic aortic aneurysm and aortic dissection · Non-syndromic heritable thoracic aortic disease

Publications

497

85.7th percentile

Trials

Interventional, condition-specific

Researchers

1,366

Distinct authors in sample

Gene link

BGN, ELN, FBN1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Familial thoracic aortic aneurysm and aortic dissection is 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.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

MONDO:0019625
UMLS:C4707243

Additional Mondo synonyms (10)

Erdheim disease · familial TAAD · familial aortic dissection · familial non-syndromic TAAD · familial thoracic aortic aneurysm and aortic dissection · nonsyndromic HTAD · nonsyndromic familial thoracic aortic aneurysm and dissection · nonsyndromic heritable thoracic aortic disease · ns-FTAAD · nsHTAD

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

Gene identifiedPresent
Definitive — BGN, ELN, FBN1, FLNA, FOXE3…
LiteraturePresent
497 matched papers (322 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 trialPresent
24 matched on ClinicalTrials.gov (3 recruiting in sample)

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?

Yes — we know a specific gene responsible (BGN, ELN, FBN1…).

GenCC classification: Definitive.

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?

497

497 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

497 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).

322 in the last 10 years · medium confidence · 85.7th percentile (publications denominator)

Phrase hits: 497 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,366

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

01
Milewicz DM22 papers · 2026
From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.). Dianna.M.Milewicz@uth.tmc.edu.
Papers in Europe PMC
02
Regalado ES10 papers · 2019
From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.).
Papers in Europe PMC
03
Guo DC9 papers · 2019
From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.).
Papers in Europe PMC
04
Prakash SK8 papers · 2026
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Papers in Europe PMC
05
Elefteriades JA7 papers · 2025
Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, Connecticut.
Papers in Europe PMC
06
Takeda N7 papers · 2026
Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Papers in Europe PMC
07
Aizawa K6 papers · 2026
Division of Clinical Pharmacology, Department of Pharmacology, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke, Tochigi, 329-0498, Japan.
Papers in Europe PMC
08
Braverman AC6 papers · 2023
Department of Medicine, Cardiovascular Division, Washington University School of Medicine, St. Louis, MO.
Papers in Europe PMC
09
Leal SM6 papers · 2016
From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.).
Papers in Europe PMC
10
Komuro I5 papers · 2026
Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Papers in Europe PMC

Clinical research

Is a treatment being tested?

interventional trials for this specific condition

24 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 27 July 2026

24 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 95th percentile).

medium confidence · 95th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

24 interventional trials matched after quoted-phrase search and title/condition post-filter.

NCT00801489·RECRUITING·Fludarabine Phosphate, Cytarabine, Filgrastim-sndz, Gemtuzumab Ozogamicin, and Idarubicin Hydrochloride in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia or High-Risk Myelodysplastic Syndrome
Conditions: Acute Myeloid Leukemia With Inv(16)(p13.1q22); CBFB-MYH11 · Acute Myeloid Leukemia With t(16;16)(p13.1;q22); CBFB-MYH11 · Acute Myeloid Leukemia With t(8;21); (q22; q22.1); RUNX1-RUNX1T1 · de Novo Myelodysplastic Syndrome·Matched via recall expansion
NCT06429098·RECRUITING·Study of A Venetoclax-based, Anthracycline-free Regimen in Newly Diagnosed CBFβ::MYH11(+) AML
Conditions: Acute Myeloid Leukemia·Matched via recall expansion
NCT07592637·NOT YET RECRUITING·Lung Disease and FLNA Mutations
Conditions: Emphysema·Matched via recall expansion

Observational and natural-history studies

10 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.

Recruiting or not-yet-recruiting

NCT07448753·ENROLLING BY INVITATION·ACTG2/FLNA Testing Yield in Adult Idiopathic Chronic Intestinal Pseudo-Obstruction (CIPO) With Reduced/Absent Distal Esophageal Contractility
Conditions: Pseudo Obstruction·Matched via recall expansion

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

This 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 thoracic aortic aneurysm and aortic dissection" OR "FTAAD" OR "Familial TAAD" OR "Familial non-syndromic thoracic aortic aneurysm and aortic dissection" OR "Hereditary TAAD" OR "Hereditary thoracic aortic aneurysm and aortic dissection" OR "Non-syndromic heritable thoracic aortic disease" OR "Erdheim disease" OR "familial aortic dissection" OR "familial non-syndromic TAAD" OR "nonsyndromic HTAD" OR "nonsyndromic familial thoracic aortic aneurysm and dissection" OR "nonsyndromic heritable thoracic aortic disease" OR "ns-FTAAD" OR "nsHTAD"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Familial thoracic aortic aneurysm and aortic dissection" OR "FTAAD" OR "Familial TAAD" OR "Familial non-syndromic thoracic aortic aneurysm and aortic dissection" OR "Hereditary TAAD" OR "Hereditary thoracic aortic aneurysm and aortic dissection" OR "Non-syndromic heritable thoracic aortic disease" OR "Erdheim disease" OR "familial aortic dissection" OR "familial non-syndromic TAAD" OR "nonsyndromic HTAD" OR "nonsyndromic familial thoracic aortic aneurysm and dissection" OR "nonsyndromic heritable thoracic aortic disease" OR "ns-FTAAD" OR "nsHTAD" OR "BGN" OR "ELN" OR "FBN1" OR "FLNA" OR "FOXE3" OR "LOX" OR "MAT2A" OR "MFAP5" OR "MYH11" OR "MYLK" OR "PRKG1" OR "TGFB2" OR "TGFB3" OR "THSD4"

Recall-expansion terms: BGN, ELN, FBN1, FLNA, FOXE3, LOX, MAT2A, MFAP5, MYH11, MYLK, PRKG1, TGFB2, TGFB3, THSD4

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 24 interventional · 10 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

Confidence reasoning

Preferred label is multi-word and distinctive
No synonyms dropped by stoplist
"familial aortic dissection" also appears on ORPHA:229

Ingested 2026-07-27T04:01:01.768Z