{"orpha":1457,"name":"Coarctation of aorta","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Aorta coarctation"],"definition":"A rare congenital non-syndromic heart malformation characterized by a discrete luminal narrowing of the aorta, typically located at the junction between the aortic arch and the descending aorta, opposite the site of ductus arteriosus insertion. Coarctation of aorta (CoA) is often associated with other cardiac anomalies including bicuspid aortic valve and tubular hypoplasia of the transverse arch.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1457/","orphanet_url":"https://www.orpha.net/en/disease/detail/1457","names":{"fr":{"name":"Coarctation de l'aorte","definition":"Malformation cardiaque congénitale rare et non syndromique caractérisée par un rétrécissement discret de la lumière de l'aorte, généralement situé à la jonction entre la crosse aortique et l'aorte descendante, à l'opposé du site d'insertion du canal artériel. La coarctation de l'aorte (CoA) est souvent associée à d'autres malformations cardiaques, notamment une valve aortique bicuspide et une hypoplasie tubulaire de l'arc transversal."},"de":{"name":"Aortenisthmusstenose","synonyms":["Aortenkoarktation"],"definition":"Eine seltene angeborene nicht-syndromale Herzfehlbildung, die durch eine diskrete Verengung des Aortenlumens gekennzeichnet ist, typischerweise an der Verbindungsstelle zwischen Aortenbogen und absteigender Aorta, gegenüber der Stelle, an der der Ductus arteriosus mündet. Die Aortenisthmusstenose (CoA) ist häufig mit anderen Herzfehlbildungen verbunden, darunter eine bikuspide Aortenklappe und eine tubuläre Hypoplasie des transversalen Bogens."},"es":{"name":"Coartación de la aorta"},"it":{"name":"Coartazione dell'aorta"},"nl":{"name":"Aortacoarctatie","synonyms":["Coarctatie van aorta","Coarctatio aortae"],"definition":"Een zeldzame congenitale niet-syndromale hartmalformatie, gekenmerkt door een discrete vernauwing van het lumen van de aorta, doorgaans gesitueerd aan de verbinding tussen de aortaboog en de aorta descendens, tegenover de insertie van de ductus arteriosus. Coarctatie van aorta (CoA) is vaak geassocieerd met andere hartanomalieën, waaronder bicuspide aortaklep en tubulaire hypoplasie van de transversale aortaboog."},"pt":{"name":"Coartação da aorta","synonyms":["Aorta coartação"]},"pl":{"name":"Koarktacja aorty","synonyms":["Aorta coarctation"]},"cs":{"name":"Koarktace aorty","synonyms":["Aorta coarctation"]},"uk":{"name":"Коарктація аорти"},"zh":{"name":"主动脉缩窄"},"tr":{"name":"Aort koarktasyonu"}},"xrefs":[{"source":"OMIM","code":"120000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q25.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA8B.21","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1524185114"},{"source":"MONDO","code":"0007345","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D001017","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0003492","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5828","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10009807","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1455,"name":"OBSOLETE: Autosomal dominant coarctation of aorta","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98718,"name":"Aortic malformation","classifications":[147,148,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":21.3,"area":"Denmark","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":27.5,"area":"France","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":59.4,"area":"Germany","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":31.0,"area":"Hungary","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":32.5,"area":"Ireland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":39.6,"area":"Italy","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":24.9,"area":"Malta","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.7,"area":"Netherlands","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":21.3,"area":"Norway","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.0,"area":"Poland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.5,"area":"Portugal","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":16.9,"area":"Spain","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":25.1,"area":"Switzerland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":40.1,"area":"United Kingdom","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":38.1,"area":"Ukraine","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":35.6,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":78.5,"area":"Austria","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":43.7,"area":"Belgium","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":22.7,"area":"Croatia","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"28377475[PMID]_22088486[PMID]_23731614[PMID]_15690347[PMID]_15712195[PMID]_25737506[PMID]_26323199[PMID]_26100586[PMID]_26025083[PMID]_14708093[PMID]_25634191[PMID]_8487284[PMID]_1018301[PMID]","terms":[{"hpo":"HP:0012305","label":"Coarctation of the descending aortic arch","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0011103","label":"Abnormal left ventricular outflow tract morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001677","label":"Coronaryartery atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012304","label":"Hypoplastic aortic arch","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011682","label":"Perimembranous ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005301","label":"Persistent left superior vena cava","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010883","label":"Aortic valve atresia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011611","label":"Interrupted aortic arch","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0005295","label":"Pseudocoarctation of the aorta","frequency":"Excluded (0%)","criteria":null}]}}