{"orpha":2299,"name":"Aortic arch interruption","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2299/","orphanet_url":"https://www.orpha.net/en/disease/detail/2299","names":{"fr":{"name":"Interruption de la crosse aortique","definition":"Une anomalie cardiaque rare caractérisée par l'absence complète de continuité anatomique entre la crosse aortique transverse et l'aorte thoracique descendante. Sur le plan anatomique, elle se distingue de l'atrésie de la crosse aortique, pour laquelle la continuité entre ces segments est maintenue grâce à un brin fibreux non perforé, de taille variable."},"de":{"name":"Aortenbogenunterbrechung"},"es":{"name":"Interrupción del arco aótico","definition":"Es un defecto cardíaco poco frecuente caracterizado por una ausencia completa de continuidad anatómica entre el arco aórtico transverso y la aorta torácica descendente. Este defecto debe distinguirse anatómicamente de la atresia del arco aórtico, en la que la continuidad se logra mediante una capa de tejido fibroso imperforado de diferente tamaño."},"it":{"name":"Interruzione dell'arco aortico","definition":"L'interruzione dell'arco aortico è una cardiopatia rara caratterizzata dalla totale mancanza di continuità anatomica tra l'arco aortico trasverso e l'aorta toracica discendente. Dal punto di vista anatomico, l'AAI si differenzia dall'atresia dell'arco aortico, nella quale viene mantenuta la continuità tra i segmenti mediante un filo fibroso non perforato di lunghezza variabile."},"nl":{"name":"Aortaboogonderbreking","definition":"Een zeldzaam hartdefect, gekarakteriseerd door volledige afwezigheid van anatomische continuïteit tussen de transversale aortaboog en het dalende deel van de thoracale aorta. AAI dient anatomisch onderscheiden te worden van atresie van aortaboog, waarbij continuïteit tussen deze segmenten voorzien wordt door een niet-geperforeerde fibreuze streng met variabele lengte."},"pt":{"name":"Interrupção do arco aórtico","definition":"Uma cardiopatia congénita rara caracterizada pela completa ausência de continuidade anatómica entre o arco aórtico transverso e a aorta torácica descendente. A AAI deve ser diferenciada anatomicamente da atresia do arco aórtico, onde a continuidade entre estes segmentos é obtida por um feixe fibroso imperfurado de comprimento variável."},"pl":{"name":"Przerwanie łuku aorty"},"cs":{"name":"Interrupce aortálního oblouku"},"uk":{"name":"Перерив дуги аорти","definition":"A rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths."},"zh":{"name":"主动脉弓离断"},"tr":{"name":"Aortik ark kesintisi"}},"xrefs":[{"source":"ICD-10","code":"Q25.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA8B.22","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1769930414"},{"source":"MONDO","code":"0009010","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0152419","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"740","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10022599","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Europe","status":"Not yet validated","source":"24457106[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-08-19","source":"30422497[PMID]_29742969[PMID]_24457106[PMID]_27777532[PMID]","terms":[{"hpo":"HP:0032554","label":"Absent pulse","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032092","label":"Left ventricular outflow tract obstruction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020142","label":"Blood pressure substantially higher in arms than legs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001712","label":"Left ventricular hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030973","label":"Postexertional malaise","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031273","label":"Shock","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031664","label":"Systolic heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031784","label":"Abnormal ascending aorta morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011604","label":"Aortopulmonary window","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004417","label":"Intermittent claudication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011712","label":"Right bundle branch block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001669","label":"Transposition of the great arteries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001660","label":"Truncus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010883","label":"Aortic valve atresia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001719","label":"Double outlet right ventricle","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001750","label":"Single ventricle","frequency":"Very rare (<4-1%)","criteria":null}]}}