{"orpha":3384,"name":"Common arterial trunk","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["CAT","Common aorticopulmonary trunk","Common truncus arteriosus","Persistent truncus arteriosus","Truncus arteriosus","Truncus arteriosus communis"],"definition":"A rare congenital cardiac malformation characterized by a single arterial trunk arising from the heart, giving origin sequentially to the coronary arteries, one or more pulmonary arteries, and the systemic arterial circulation. Two forms exist: common arterial trunk (CAT) with aortic dominance (unobstructed aortic arch) and one or both pulmonary arteries originating from the trunk, and CAT with pulmonary dominance and interrupted aortic arch or coarctation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3384/","orphanet_url":"https://www.orpha.net/en/disease/detail/3384","names":{"fr":{"name":"Tronc artériel commun","synonyms":["Persistance du truncus arteriosus","Truncus arteriosus","Truncus arteriosus communis"],"definition":"Malformation cardiaque congénitale rare caractérisée par un tronc artériel unique émergeant du coeur, donnant successivement naissance aux artères coronaires, à une ou plusieurs artères pulmonaires et à une circulation artérielle systémique. On distingue deux formes de tronc artériel commun (TAC)&nbsp;: à prédominance aortique (arche aortique non obstruée) et une ou deux artères pulmonaires provenant du tronc, et à prédominance pulmonaire et une interruption ou une coarctation de l'arche aortique."},"de":{"name":"Truncus arteriosus communis","synonyms":["Persistierender Truncus arteriosus","TAC","Truncus arteriosus","Truncus arteriosus persistens"],"definition":"Eine seltene angeborene Fehlbildung des Herzens, die durch einen einzigen arteriellen Stamm gekennzeichnet ist, der vom Herzen ausgeht und von dem nacheinander die Koronararterien, eine oder mehrere Lungenarterien und der systemische arterielle Kreislauf ausgehen. Es gibt zwei Formen: den Truncus arteriosus communis (CAT) mit Aortendominanz (,,nicht obstruierter Aortenbogen'') und einer oder beiden Pulmonalarterien, die aus dem Arterientruncus entspringen, und den CAT mit Pulmonaldominanz und unterbrochenem Aortenbogen oder Koarktation."},"es":{"name":"Tronco arterioso común","synonyms":["TAC","Tronco aórtico-pulmonar común","Truncus arteriosus","Truncus arteriosus común","Truncus arteriosus persistente"],"definition":"El tronco arterial (TA) común es una anomalía congénita cardiovascular rara caracterizada por un tronco arterial único que sale del corazón a través de una única válvula semilunar (es decir, la válvula truncal). Las arterias pulmonares nacen del tronco arterial común distal al nacimiento de las arterias coronarias y proximal al nacimiento de la primera rama braquiocefálica del arco aórtico. El TA normalmente cabalga sobre una gran comunicación interventricular (CIV) de salida. La anatomía intracardiaca suele presentar situs solitus y concordancia atrioventricular (AV)."},"it":{"name":"Tronco arterioso comune","synonyms":["Tronco arterioso comune","CAT","Tronco aortico-polmonare comune","Tronco arterioso","Tronco arterioso persistente"]},"nl":{"name":"Truncus arteriosus communis","synonyms":["Gemeenschappelijke aorticopulmonale stam","Gemeenschappelijke arteriestam","Gemeenschappelijke arteriële stam","Gemeenschappelijke truncus arteriosus","Persisterende truncus arteriosus","TAC","Truncus arteriosus"],"definition":"Een zeldzame congenitale hartmalformatie, gekenmerkt door een enkelvoudige truncus arteriosus die ontspringt uit het hart, en vervolgens de oorsprong vormt van de kransslagaders, een of meer longslagaders, en de systemische arteriële circulatie. Er bestaan twee vormen: truncus arteriosus communis (CAT) met dominantie van aorta (niet-geobstrueerde aortaboog) en één of beide longslagaders die ontspringen in de truncus arteriosus, en CAT met dominantie van arteria pulmonalis en interruptie van aortaboog of coarctatie."},"pt":{"name":"Tronco arterial comum","synonyms":["Truncus arteriosus comum","TAC","Tronco aórticopulmonar comum","Truncus arteriosus","Truncus arteriosus persistente","Truncus arteriosus communis"]},"pl":{"name":"Wspólny pień tętniczy","synonyms":["TAC","Wspólny pień tętniczo-płucny"]},"cs":{"name":"Truncus arteriosus","synonyms":["TAC","Truncus arteriosus persistens","Společný aortopulmonální kmen","Společný tepenný kmen"]},"uk":{"name":"Загальний артеріальний стовбур","synonyms":["CAT","Загальний аорто-легеневий стовбур","Truncus arteriosus"],"definition":"Truncus arteriosus (TA) is a rare congenital cardiovascular anomaly characterized by a single arterial trunk arising from the heart by means of a single semilunar valve (<I>i.e.</I> truncal valve). Pulmonary arteries originate from the common arterial trunk distal to the coronary arteries and proximal to the first brachiocephalic branch of the aortic arch. TA typically overrides a large outlet ventricular septal defect (VSD). The intracardiac anatomy usually displays situs solitus and atrioventricular (AV) concordance."},"zh":{"name":"动脉干","synonyms":["共肺动脉主动脉干"]},"tr":{"name":"Trunkus arteriozus","synonyms":["TAC","Ortak arteriyel gövde","Ortak aortik-pulmoner gövde"]}},"xrefs":[{"source":"OMIM","code":"217095","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620294","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q20.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA85.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1832500366"},{"source":"MONDO","code":"0018072","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18072","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D014339","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0041207","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10044703","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2445,"name":"Conotruncal heart malformations","classifications":[147,148]},{"orpha":477805,"name":"Genetic cardiac malformation","classifications":[156]}],"children":[{"orpha":665044,"name":"Common arterial trunk with aortic dominance","type":"Clinical subtype"},{"orpha":665058,"name":"Common arterial trunk with pulmonary dominance and interrupted aortic arch","type":"Clinical subtype"}],"genes":[{"symbol":"PLXND1","name":"plexin D1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24254849[PMID]","hgnc":"9107","ensembl":"ENSG00000004399","omim":"604282","loci":["3q22.1"]}],"genes_via_subtypes":[{"symbol":"GATA6","name":"GATA binding protein 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19666519[PMID]_38351237[PMID]","hgnc":"4174","ensembl":"ENSG00000141448","omim":"601656","loci":["18q11.2"],"via":{"orpha":665044,"name":"Common arterial trunk with aortic dominance"}},{"symbol":"GATA6","name":"GATA binding protein 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19666519[PMID]_38351237[PMID]","hgnc":"4174","ensembl":"ENSG00000141448","omim":"601656","loci":["18q11.2"],"via":{"orpha":665058,"name":"Common arterial trunk with pulmonary dominance and interrupted aortic arch"}},{"symbol":"TBX1","name":"T-box transcription factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14585638[PMID]_29509905[PMID]","hgnc":"11592","ensembl":"ENSG00000184058","omim":"602054","loci":["22q11.21"],"via":{"orpha":665044,"name":"Common arterial trunk with aortic dominance"}},{"symbol":"TBX1","name":"T-box transcription factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14585638[PMID]_29509905[PMID]","hgnc":"11592","ensembl":"ENSG00000184058","omim":"602054","loci":["22q11.21"],"via":{"orpha":665058,"name":"Common arterial trunk with pulmonary dominance and interrupted aortic arch"}},{"symbol":"NKX2-6","name":"NK2 homeobox 6","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"15649947[PMID]_25195019[PMID]","hgnc":"32940","ensembl":"ENSG00000180053","omim":"611770","loci":["8p21.2"],"via":{"orpha":665058,"name":"Common arterial trunk with pulmonary dominance and interrupted aortic arch"}}],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.3,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.8,"area":"Europe","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":5.8,"area":"Belgium","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":9.8,"area":"France","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":5.8,"area":"Germany","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":5.5,"area":"Hungary","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":3.6,"area":"Ireland","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":2.8,"area":"Italy","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":5.8,"area":"Netherlands","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":3.3,"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":2.2,"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":1.9,"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":12.6,"area":"Switzerland","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":7.7,"area":"United Kingdom","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":6.4,"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"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-07-15","source":"27262857[PMID]_29977268[PMID]_30596352[PMID]","terms":[{"hpo":"HP:0001660","label":"Truncus arteriosus","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031653","label":"Abnormal heart valve physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011660","label":"Anomalous origin of one pulmonary artery from ascending aorta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012020","label":"Right aortic arch","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001667","label":"Right ventricular hypertrophy","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:0006704","label":"Abnormal coronary artery morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002101","label":"Abnormal lung lobation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025575","label":"Abnormal superior vena cava morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000849","label":"Adrenocortical abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045060","label":"Aplasia/hypoplasia involving bones of the extremities","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031014","label":"Arteria lusoria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000778","label":"Hypoplasia of the thymus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011611","label":"Interrupted aortic arch","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005301","label":"Persistent left superior vena cava","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004935","label":"Pulmonary artery atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004415","label":"Pulmonary artery stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100598","label":"Pulmonary edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011640","label":"Single coronary artery origin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031635","label":"Anomalous origin of the left common carotid artery from the brachiocephalic artery","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004971","label":"Pulmonary artery hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001669","label":"Transposition of the great arteries","frequency":"Very rare (<4-1%)","criteria":null}]}}