Familial aortic dissection
Synonyms: Annuloaortic ectasia · Cystic medial necrosis of aorta
- Type
- Disease
- Group
- Disorder
- Age of onset
- All ages
- Status
- active
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 autosomal dominant manner.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial aortic dissection | Annuloaortic ectasia · Cystic medial necrosis of aorta |
| fr | Dissection aortique familiale | Maladie aortique annulo-ectasiante · Médianécrose kystique de l'aorte |
| de | Aortendissektion, familiäre | Ektasie, annulo-aortale · Zystische Medianekrose der Aorta |
| es | Disección aórtica familiar | Ectasia anuloaórtica · Necrosis quística de la media de la aorta |
| it | Dissezione familiare dell'aorta | Aneurisma disseccante familiare dell'aorta · Malattia di Erdheim · Necrosi cistica della media dell'aorta |
| nl | Familiale aortadissectie | Annuloaortische ectasie · Cystische mediale necrose van aorta |
| pt | Disseção da aorta familiar | Ectasia anulo-aórtica · Necrose quística medial da aorta |
| pl | Rodzinne rozwarstwienie aorty | Choroba Erdheima · Rodzinne poszerzenie i rozwarstwienie aorty · Torbielowata pośrodkowa martwica aorty |
| cs | Familiární disekce aorty | Anuloaortální ektázie · Cystická medionekróza aorty · Erdheimova nemoc |
| uk | Сімейне розшарування аорти | Аннулоаортальна ектазія · Кістозний медіальний некроз аорти |
| zh | 家族性主动脉夹层 | 主动脉囊性中层坏死 |
| tr | Ailesel aort diseksiyonu | Anuloaortik ektazi · Aortun kistik medyal nekrozu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607086 | E | validated | |
| ICD-10 | I71.0 | NTBT | attributed | validated |
| ICD-11 | BD50.Z | NTBT | index | validated |
| MONDO | 0024559 | E | validated | |
| UMLS | C0345050 | E | validated | |
| GARD | 1654 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:285014Rare disease with thoracic aortic aneurysm and aortic dissection
rare genetic diseases; rare surgical thoracic diseases; rare circulatory system diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYH11 | Candidate gene tested in | Not yet assessed | HGNC:7569 | ENSG00000133392 | 160745 | 16p13.11 | myosin heavy chain 11 |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Annual incidence | 1-9 / 1 000 000 | 0.4 / 100 000 | Worldwide | Value and class | Validated | 28722992[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
19 annotations · validated 2016-05-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0200146 | Cystic medial necrosis of the aorta | |
| Frequent (79-30%) | ||
| HP:0005162 | Abnormal left ventricular function | |
| HP:0001659 | Aortic regurgitation | |
| HP:0002616 | Aortic root aneurysm | |
| HP:0004933 | Ascending aortic dissection | |
| HP:0001640 | Cardiomegaly | |
| HP:0100749 | Chest pain | |
| HP:0001677 | Coronaryartery atherosclerosis | |
| HP:0012499 | Descending aortic dissection | |
| HP:0004959 | Descending thoracic aorta aneurysm | |
| HP:0002875 | Exertional dyspnea | |
| HP:0012763 | Paroxysmal dyspnea | |
| HP:0001643 | Patent ductus arteriosus | |
| Occasional (29-5%) | ||
| HP:0002647 | Aortic dissection | |
| HP:0012163 | Carotid artery dilatation | |
| HP:0000965 | Cutis marmorata | |
| HP:0004944 | Dilatation of the cerebral artery | |
| HP:0004950 | Peripheral arterial stenosis | |
| HP:0001297 | Stroke | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 16444274[PMID]_11249915[PMID]_17666408[PMID]_17666408[PMID]_15998682[PMID]_26604122[PMID]_22511748[PMID]_24284977[PMID]_25835446[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/229
- This record as JSON: /data/d/229.json