{"orpha":99050,"name":"Abnormal origin of right or left pulmonary artery from the aorta","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Hemitruncus arteriosus","Pulmonary artery coming from the aorta"],"definition":"A rare, congenital, heart malformation characterized by anomalous origin of one branch of the pulmonary arteries directly from the aorta and a normal origin of the other pulmonary artery from the main pulmonary artery coming from the right ventricular outflow tract. Patients present respiratory distress, congestive heart failure and failure to thrive within the first days/months of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99050/","orphanet_url":"https://www.orpha.net/en/disease/detail/99050","names":{"fr":{"name":"Artère pulmonaire gauche ou droite d'origine aortique","synonyms":["Artère pulmonaire naissant de l'aorte","Hemitruncus arteriosus"],"definition":"Malformation cardiaque congénitale rare caractérisée par un trajet anormal de l'une des artères du tronc pulmonaire prenant naissance directement dans l'aorte et par un trajet normal de l'autre artère du tronc pulmonaire prenant naissance dans la voie d'éjection ventriculaire droite. Les patients présentent une détresse respiratoire, une insuffisance cardiaque congestive et un retard de croissance staturo-pondérale au cours des premiers jours/mois de vie."},"de":{"name":"Pulmonalarterie, der Aorta entstammend","synonyms":["Abnormaler Ursprung der rechten oder linken Pulmonalarterie aus der Aorta","Hemitruncus arteriosus","Ursprungsanomalie der rechten oder linken Pulmonalarterie"],"definition":"Eine seltene, angeborene Fehlbildung des Herzens, die durch einen anomalen Ursprung eines Astes der Lungenarterien direkt aus der Aorta und einen normalen Ursprung der anderen Lungenarterie aus der Hauptlungenarterie, die aus dem rechtsventrikulären Ausflusstrakt kommt, gekennzeichnet ist. Die Patienten leiden in den ersten Lebenstagen/-monaten unter Atemnot, Herzinsuffizienz und Gedeihstörung."},"es":{"name":"Origen anómalo de la arteria pulmonar derecha o izquierda de la aorta","synonyms":["Hemitruncus arterioso"],"definition":"Es una malformación cardíaca congénita poco frecuente, caracterizada por el origen anómalo de una de las arterias pulmonares directamente desde la aorta y un origen normal de la otra en la arteria pulmonar principal procedente del tracto de salida del ventrículo derecho. Los pacientes presentan distrés respiratorio, insuficiencia cardíaca congestiva y fallo de medro en los primeros días/ meses de vida."},"it":{"name":"Anomala origine dell'arteria polmonare destra o sinistra dall'aorta","synonyms":["Arteria polmonare di origine aortica","Hemitruncus arteriosus"],"definition":"Si tratta di una cardiopatia congenita rara caratterizzata da un'anomalia di uno dei rami delle arterie polmonari che origina direttamente dall'aorta, associata ad un'origine normale dell'altra arteria polmonare dall'arteria polmonare principale proveniente dal tratto di efflusso del ventricolo destro. Nei primi giorni/mesi di vita, i pazienti presentano distress respiratorio, insufficienza cardiaca congestizia e ritardo della crescita."},"nl":{"name":"Abnormale oorsprong van rechter- of linkerlongslagader in aorta","synonyms":["Longslagader komende vanuit aorta","Hemitruncus arteriosus"],"definition":"Een zeldzame, congenitale hartmalformatie gekarakteriseerd door abnormale oorsprong van een tak van de longslagaders, rechtstreeks vanuit de aorta, en een normale oorsprong van de andere longslagader vanuit de hoofdlongslagader komende vanuit de uitstroombaan van het rechterventrikel. Patiënten vertonen ademnood, congestief hartfalen en groeiachterstand in de eerste dagen/maanden van het leven."},"pt":{"name":"Artéria pulmonar proveniente da aorta"},"pl":{"name":"Tętnica płucna odchodząca od aorty","synonyms":["Częściowy wspólny pień tętniczy","Nieprawidłowe odejście prawej lub lewej tętnicy płucnej od aorty"]},"cs":{"name":"Plicní tepna vycházející z aorty","synonyms":["Hemitruncus arteriosus","Abnormální počátek pravé nebo levé plicní tepny z aorty"]},"uk":{"name":"Аномальне походження правої або лівої легеневої артерії від аорти","synonyms":["Артеріальний гемотрансфузійний синдром","Легенева артерія, що відходить від аорти"],"definition":"A rare, congenital, heart malformation characterized by anomalous origin of one branch of the pulmonary arteries directly from the aorta and a normal origin of the other pulmonary artery from the main pulmonary artery coming from the right ventricular outflow tract. Patients present respiratory distress, congestive heart failure and failure to thrive within the first days/months of life."},"zh":{"name":"右肺动脉或左肺动脉自主动脉起源异常","synonyms":["肺动脉主动脉起源"],"definition":"该病是一种罕见的先天性心脏畸形，患者一支肺动脉异常起源，直接来自主动脉；另一支肺动脉正常起源，来自右心室流出道的主肺动脉。患者会出现呼吸窘迫、充血性心力衰竭和在出生后前几天/几个月内无法正常生长发育。"},"tr":{"name":"Aorttan sağ veya sol pulmoner arterin anormal orijini","synonyms":["Hemitrunkus arteriozus","Aorttan gelen pulmoner arter"]}},"xrefs":[{"source":"ICD-10","code":"Q25.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA8B.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0020391","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3838927","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4586","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1138,"name":"Abnormal origin of the pulmonary artery","classifications":[147,148]},{"orpha":182111,"name":"Respiratory malformation","classifications":[184]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"24182510[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-09","source":"25905931[PMID]_32854517[PMID]_22467006[PMID]","terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005143","label":"Anomalous origin of right pulmonary artery from ascending aorta","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","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:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032092","label":"Left ventricular outflow tract obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012382","label":"Left-to-right shunt","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012303","label":"Abnormal aortic arch morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011661","label":"Anomalous origin of left pulmonary artery from ascending aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011604","label":"Aortopulmonary window","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031014","label":"Arteria lusoria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001669","label":"Transposition of the great arteries","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031934","label":"Abnormal descending aorta morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004935","label":"Pulmonary artery atresia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012020","label":"Right aortic arch","frequency":"Very rare (<4-1%)","criteria":null}]}}