{"orpha":229,"name":"Familial aortic dissection","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Annuloaortic ectasia","Cystic medial necrosis of aorta"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-229/","orphanet_url":"https://www.orpha.net/en/disease/detail/229","names":{"fr":{"name":"Dissection aortique familiale","synonyms":["Maladie aortique annulo-ectasiante","Médianécrose kystique de l'aorte"],"definition":"La dissection aortique désigne le clivage de la paroi aortique au niveau de la média, résultant dans la formation d'un faux chenal dérivant une partie du flux aortique. Une prédisposition familiale à la formation d'anévrysmes de l'aorte thoracique et des dissections de type A (concernant l'aorte ascendante et/ou la crosse aortique) a été mise en évidence dans environ 19% des patients présentant une dissection de l'aorte thoracique, et plusieurs <i>loci</i> ont été incriminés à ce jour (16p12.2-p13.13, 3p24-25). Cette prédisposition se transmet de manière autosomique dominante."},"de":{"name":"Aortendissektion, familiäre","synonyms":["Ektasie, annulo-aortale","Zystische Medianekrose der Aorta"],"definition":"Der Terminus 'Familiäre Aortendissektion' wird verwendet, um die Ruptur der Aorta auf der Ebene der Media zu beschreiben. Durch diesen Defekt entsteht ein falscher Kanal mit teilweiser Ablenkung des Blutflusses der Aorta."},"es":{"name":"Disección aórtica familiar","synonyms":["Ectasia anuloaórtica","Necrosis quística de la media de la aorta"],"definition":"La disección aórtica familiar es el término utilizado para describir la ruptura de la pared aórtica a nivel de la aorta media, lo que resulta en la formación de un falso canal con el desvío de parte del flujo de la aorta. La predisposición familiar a los aneurismas aórticos torácicos y las disecciones de tipo A (que afectan a la aorta ascendente y/o al cayado aórtico) se ha comprobado en alrededor del 19% de los pacientes que presentan disecciones aórticas. Hasta la fecha se ha asociado a diversos loci (16p12.2-p13.13, 3p24-25). Esta predisposición es de herencia autosómica dominante."},"it":{"name":"Dissezione familiare dell'aorta","synonyms":["Aneurisma disseccante familiare dell'aorta","Malattia di Erdheim","Necrosi cistica della media dell'aorta"]},"nl":{"name":"Familiale aortadissectie","synonyms":["Annuloaortische ectasie","Cystische mediale necrose van aorta"],"definition":"Familiale aortadissectie is de term die gebruikt wordt om ruptuur van de wand van de aorta ter hoogte van de media te beschrijven, wat resulteert in vorming van een vals kanaal en gedeeltelijke afbuiging van de bloedstroom van de aorta. Familiale predispositie voor aneurysmata en type A dissecties (met betrokkenheid van stijgende deel van aorta en/of aortaboog) van thoracale aorta werd aangetoond bij ongeveer 19% van de patiënten die dissecties van aorta thoracica vertonen, en verschillende loci werden reeds geïdentificeerd (16p12.2-p13.13, 3p24-25). Deze predispositie wordt overgeërfd op een autosomaal dominante manier."},"pt":{"name":"Disseção da aorta familiar","synonyms":["Ectasia anulo-aórtica","Necrose quística medial da aorta"]},"pl":{"name":"Rodzinne rozwarstwienie aorty","synonyms":["Choroba Erdheima","Rodzinne poszerzenie i rozwarstwienie aorty","Torbielowata pośrodkowa martwica aorty"]},"cs":{"name":"Familiární disekce aorty","synonyms":["Anuloaortální ektázie","Cystická medionekróza aorty","Erdheimova nemoc"]},"uk":{"name":"Сімейне розшарування аорти","synonyms":["Аннулоаортальна ектазія","Кістозний медіальний некроз аорти"],"definition":"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."},"zh":{"name":"家族性主动脉夹层","synonyms":["主动脉囊性中层坏死"]},"tr":{"name":"Ailesel aort diseksiyonu","synonyms":["Anuloaortik ektazi","Aortun kistik medyal nekrozu"]}},"xrefs":[{"source":"OMIM","code":"607086","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BD50.Z","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"672177544"},{"source":"MONDO","code":"0024559","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0345050","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1654","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98028,"name":"Rare circulatory system disease"},"parents":[{"orpha":285014,"name":"Rare disease with thoracic aortic aneurysm and aortic dissection","classifications":[156,186,198]}],"children":[],"genes":[{"symbol":"MYH11","name":"myosin heavy chain 11","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"7569","ensembl":"ENSG00000133392","omim":"160745","loci":["16p13.11"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Worldwide","status":"Validated","source":"28722992[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-05-09","source":"16444274[PMID]_11249915[PMID]_17666408[PMID]_17666408[PMID]_15998682[PMID]_26604122[PMID]_22511748[PMID]_24284977[PMID]_25835446[PMID]","terms":[{"hpo":"HP:0200146","label":"Cystic medial necrosis of the aorta","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005162","label":"Abnormal left ventricular function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002616","label":"Aortic root aneurysm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004933","label":"Ascending aortic dissection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001677","label":"Coronaryartery atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012499","label":"Descending aortic dissection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004959","label":"Descending thoracic aorta aneurysm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012763","label":"Paroxysmal dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002647","label":"Aortic dissection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012163","label":"Carotid artery dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004944","label":"Dilatation of the cerebral artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004950","label":"Peripheral arterial stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null}]}}