raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:91387

Familial thoracic aortic aneurysm and aortic dissection

Synonyms: 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

Type
Disease
Group
Disorder
Inheritance
Autosomal dominant
Age of onset
Adolescent, Adult, Childhood
Status
active

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.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enFamilial thoracic aortic aneurysm and aortic dissectionFTAAD · 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
frAnévrisme familial de l'aorte thoracique et dissection aortiqueAnévrisme familial de l'aorte thoracique et dissection aortique, forme non syndromique · Anévrisme héréditaire de l'aorte thoracique et dissection aortique · Maladie héréditaire non syndromique de l'aorte thoracique · TAAD familial
deFamiliäres thorakales Aortenaneurysma und AortendissektionFTAAD · Familiäre TAAD · Familiäres nicht-syndromales thorakales Aortenaneurysma und Aortendissektion · Hereditäres TAAD · Hereditäres thorakales Aortenaneurysma und Aortendissektion · Nicht-syndromale hereditäre thorakale Aortenkrankheit
esAneurisma aórtico torácico y disección aórtica familiarAneurisma aórtico torácico y disección aórtica familiar no sindrómico · Aneurisma aórtico torácico y disección aórtica hereditarios · Enfermedad aórtica torácica hereditaria no sindrómica · TAAD familiar · TAAD hereditaria
itAneurisma familiare dell'aorta toracica e dissecazione dell'aortaTAAD ereditaria · Aneurisma ereditario dell'aorta toracica e dissezione dell'aorta · FTAAD · Malattia ereditaria non sindromica dell'aorta toracica · TAAD familiare · Aneurisma dell’aorta toracica e dissecazione familiare non sindromica dell’aorta · Aneurisma familiare non sindromico dell'aorta toracica e dissezione dell'aorta
nlFamiliaal aneurysma van aorta thoracica en aortadissectieErfelijk aneurysma van thoracale aorta en aortadissectie · FTAAD · Familiaal TAAD · Familiaal aneurysma van thoracale aorta en aortadissectie · Familiaal niet-syndromaal aneurysma van aorta thoracica en aortadissectie · Hereditair TAAD · Hereditair aneurysma van aorta thoracica en aortadissectie · Niet-syndromale erfelijke aandoening van aorta thoracica
ptAneurisma da aorta torácica e disseção aórtica familiarTAAD · TAAD hereditária · Aneurisma da aorta torácica e dissecção da aorta hereditário · Aneurisma da aorta torácica e disseção aórtica familiar não sindrómica · TAAD familiar · Doença não sindrómica da aorta torácica hereditária
plRodzinny tętniak aorty piersiowej i rozwarstwienie aortyRodzinny TAAD
csFamiliární aneuryzma hrudní aorty s disekcí aortyFamiliární TAAD
ukСімейна аневризма грудного відділу аорти та розшарування аортиСімейна несиндромна аневризма грудного відділу аорти та розшарування аорти · Сімейний TAAD
zh家族性胸主动脉瘤和主动脉夹层家族性TAAD
trailesel torasik aort anevrizması ve aort diseksiyonuAilesel TAAD

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM132900BTNTvalidated
OMIM607086BTNTvalidated
OMIM607087BTNTvalidated
OMIM609192BTNTvalidated
OMIM610168BTNTvalidated
OMIM611788BTNTvalidated
OMIM613780BTNTvalidated
OMIM614816BTNTvalidated
OMIM615436BTNTvalidated
OMIM615582BTNTvalidated
OMIM616166BTNTvalidated
OMIM617168BTNTvalidated
OMIM619656BTNTvalidated
OMIM619657BTNTvalidated
OMIM619825BTNTvalidated
ICD-10I71.2NTBTattributedvalidated
ICD-11LD28.0YNTBTindexvalidated
MONDO0019625Evalidated
UMLSC4707243Evalidated
GARD2249Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

No children.

Codes that Orphanet moved or referred to this one:

4

Genes

20 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
ELNCandidate gene tested inNot yet assessedHGNC:3327ENSG000000495401301607q11.23elastin24932728[PMID]
MAT2ACandidate gene tested inAssessedHGNC:6904ENSG000001689066014682p11.2methionine adenosyltransferase 2A25557781[PMID]
PRKG1Disease-causing germline mutation(s) (gain of function) inAssessedHGNC:9414ENSG0000018553217689410q11.23-q21.1protein kinase cGMP-dependent 123910461[PMID]
HEY2Disease-causing germline mutation(s) (loss of function) inAssessedHGNC:4881ENSG000001355476046746q22.31hes related family bHLH transcription factor with YRPW motif 232820247[PMID]
LOXDisease-causing germline mutation(s) (loss of function) inAssessedHGNC:6664ENSG000001130831534555q23.1lysyl oxidase26838787[PMID]_27432961[PMID]
MFAP5Disease-causing germline mutation(s) (loss of function) inAssessedHGNC:29673ENSG0000019761460110312p13.31microfibril associated protein 525434006[PMID]
SMAD2Disease-causing germline mutation(s) (loss of function) inAssessedHGNC:6768ENSG0000017538760136618q21.1SMAD family member 229967133[PMID]
TGFB3Disease-causing germline mutation(s) (loss of function) inAssessedHGNC:11769ENSG0000011969919023014q24.3transforming growth factor beta 323824657[PMID]_25835445[PMID]
ACTA2Disease-causing germline mutation(s) inAssessedHGNC:130ENSG0000010779610262010q23.31actin alpha 2, smooth muscle20301299[PMID]
EFEMP2Disease-causing germline mutation(s) inAssessedHGNC:3219ENSG0000017263860463311q13.1EGF-like fibulin extracellular matrix protein 222440127[PMID]
FBN1Disease-causing germline mutation(s) inAssessedHGNC:3603ENSG0000016614713479715q21.1fibrillin 120301299[PMID]
FOXE3Disease-causing germline mutation(s) inAssessedHGNC:3808ENSG000001867906010941p33forkhead box E326854927[PMID]
MYH11Disease-causing germline mutation(s) inAssessedHGNC:7569ENSG0000013339216074516p13.11myosin heavy chain 1120301299[PMID]
MYLKDisease-causing germline mutation(s) inAssessedHGNC:7590ENSG000000655346009223q21.1myosin light chain kinase20301299[PMID]
SMAD3Disease-causing germline mutation(s) inAssessedHGNC:6769ENSG0000016694960310915q22.33SMAD family member 320301299[PMID]
SMAD4Disease-causing germline mutation(s) inAssessedHGNC:6770ENSG0000014164660099318q21.2SMAD family member 430809044[PMID]
TGFB2Disease-causing germline mutation(s) inAssessedHGNC:11768ENSG000000929691902201q41transforming growth factor beta 222772371[PMID]
TGFBR1Disease-causing germline mutation(s) inAssessedHGNC:11772ENSG000001067991901819q22.33transforming growth factor beta receptor 120301299[PMID]
TGFBR2Disease-causing germline mutation(s) inAssessedHGNC:11773ENSG000001635131901823p24.1transforming growth factor beta receptor 220301299[PMID]
THSD4Disease-causing germline mutation(s) inAssessedHGNC:25835ENSG0000018772061447615q23thrombospondin type 1 domain containing 432855533[PMID]
5

Prevalence and incidence

2 records
TypeClassValueAreaQualificationValidationSource
Cases/families22 casesWorldwideCase(s)ValidatedORPHANET
Point prevalence<1 / 1 000 000—WorldwideClass onlyNot yet validatedORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

42 annotations · validated 2016-05-11
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0003549Abnormality of connective tissue
HP:0000965Cutis marmorata
HP:0200146Cystic medial necrosis of the aorta
Frequent (79-30%)
HP:0005162Abnormal left ventricular function
HP:0000525Abnormality iris morphology
HP:0001659Aortic regurgitation
HP:0004933Ascending aortic dissection
HP:0001640Cardiomegaly
HP:0100749Chest pain
HP:0001677Coronaryartery atherosclerosis
HP:0012499Descending aortic dissection
HP:0002875Exertional dyspnea
HP:0000822Hypertension
HP:0012763Paroxysmal dyspnea
Occasional (29-5%)
HP:0005112Abdominal aortic aneurysm
HP:0000766Abnormal sternum morphology
HP:0002647Aortic dissection
HP:0002616Aortic root aneurysm
HP:0001166Arachnodactyly
HP:0001647Bicuspid aortic valve
HP:0000978Bruising susceptibility
HP:0012163Carotid artery dilatation
HP:0004959Descending thoracic aorta aneurysm
HP:0004944Dilatation of the cerebral artery
HP:0100775Dural ectasia
HP:0002105Hemoptysis
HP:0002705High, narrow palate
HP:0000316Hypertelorism
HP:0011106Hypovolemia
HP:0000023Inguinal hernia
HP:0002140Ischemic stroke
HP:0001643Patent ductus arteriosus
HP:0004950Peripheral arterial stenosis
HP:0001763Pes planus
HP:0002107Pneumothorax
HP:0002686Prenatal maternal abnormality
HP:0000278Retrognathia
HP:0002650Scoliosis
HP:0001297Stroke
HP:0002138Subarachnoid hemorrhage
HP:0000098Tall stature
HP:0002326Transient ischemic attack

Run the differential on the 3 obligate / very frequent terms

Annotation source: 20301299[PMID]_19409525[PMID]_17994018[PMID]_16996941[PMID]_24243736[PMID]_21055718[PMID]_17666408[PMID]

7

Sources for this card