{"orpha":216694,"name":"Congenitally corrected transposition of the great arteries","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Congenitally corrected transposition of the great vessels","Discordant ventriculoarterial and atrioventricular connections","Double discordance"],"definition":"A rare cardiac malformation characterized by the combination of discordant atrioventricular (AV) and ventriculo-arterial (VA) connections so that the morphologically right atrium connects to the morphologically left ventricle, the morphologically left atrium connects to the morphologically right ventricle, the morphologically right ventricle connects to the aorta, and the morphologically left ventricle connects to the pulmonary trunk. It is usually accompanied by other cardiovascular malformations which determine the clinical picture.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-216694/","orphanet_url":"https://www.orpha.net/en/disease/detail/216694","names":{"fr":{"name":"Transposition congénitalement corrigée des gros vaisseaux","synonyms":["Discordances ventriculo-artérielle et atrio-ventriculaire","Double discordance","Transposition congénitalement corrigée des grosses artères"],"definition":"La transposition congénitalement corrigée (TCC) des gros vaisseaux est une malformation cardiaque rare caractérisée par une double discordance des connexions auriculoventriculaire et ventriculo-artérielle en général accompagnée d'autres malformations cardiaques."},"de":{"name":"Kongenital korrigierte Transposition der großen Arterien","synonyms":["Atrioventrikuläre und ventrikuloarterielle Diskordanz","Doppelte Diskordanz","Kongenital korrigierte Transposition der großen Gefäße"],"definition":"Eine seltene Herzfehlbildung, die durch eine Kombination aus discordanten atrio-ventrikulären (AV) und ventrikulo-arteriellen (VA) Verbindungen gekennzeichnet ist, sodass der morphologisch rechte Vorhof mit dem morphologisch linken Ventrikel, der morphologisch linke Vorhof mit dem morphologisch rechten Ventrikel, der morphologisch rechte Ventrikel mit der Aorta und der morphologisch linke Ventrikel mit dem Lungenstamm verbunden ist. In der Regel geht sie mit weiteren kardiovaskulären Fehlbildungen einher, die das klinische Bild bestimmen."},"es":{"name":"Transposición de las grandes arterias congénitamente corregida","synonyms":["Discordancia de la conexión ventriculoarterial y auriculoventricular","Doble discordancia","Levo-transposición de las grandes arterias","TGACC","Transposición de los grandes vasos congénitamente corregida"],"definition":"La transposición congénitamente corregida (TCC) de las grandes arterias es una rara malformación cardíaca caracterizada por la combinación de conexiones atrioventricular y ventrículoarterial discordantes, generalmente asociada a otras malformaciones cardiovasculares."},"it":{"name":"Trasposizione congenitamente corretta delle grandi arterie","synonyms":["Connessioni discordanti ventricolo-arteriose e atrio-ventricolari","Doppia discordanza"],"definition":"La trasposizione congenitamente corretta (CCT) dei grossi vasi è un difetto cardiaco caratterizzato dall'associazione tra connessioni atrioventricolari e ventricolo-arteriose discordanti ed altre malformazioni cardiovascolari."},"nl":{"name":"Congenitaal gecorrigeerde transpositie van de grote slagaders","synonyms":["Congenitaal gecorrigeerde transpositie van de grote arteriën","Congenitaal gecorrigeerde transpositie van de grote vaten","Discordante ventriculoarteriële en atrioventriculaire verbindingen","Dubbele discordantie"],"definition":"Een zeldzame hartmalformatie, gekenmerkt door de combinatie van discordante atrioventriculaire (AV) en ventriculoarteriële (VA) verbindingen zodat het morfologisch rechteratrium verbonden is met het morfologisch linkerventrikel, het morfologisch linkeratrium verbonden is met het morfologisch rechterventrikel, het morfologisch rechterventrikel verbonden is met de aorta, en het morfologisch linkerventrikel verbonden is met de truncus pulmonalis. Het gaat meestal gepaard met andere cardiovasculaire malformaties die het klinische beeld bepalen."},"pt":{"name":"Transposição das grandes artérias com correção congénita","synonyms":["Transposição de grandes vasos com correção congénita","Discordância dupla","Conexões ventriculoarteriais e atrioventriculares discordantes"],"definition":"A transposição dos grandes vasos congenitamente corrigida (CCT) é uma malformação cardíaca rara caracterizada pela combinação de conexões aurículo-ventriculares e ventrículo-arteriais discordantes, geralmente acompanhada de outras malformações cardiovasculares."},"pl":{"name":"Wrodzone skorygowane przełożenie wielkich pni tętniczych","synonyms":["Komorowotętnicza i przedsionkowokomorowa niezgodność","Lewo-transpozycja wielkich pni tętniczych","L-transpozycja wielkich pni tętniczych","Niezgodność połączeń komorowotętniczych i przedsionkowokomorowych","Odwrócenie komór","Wrodzone skorygowane przełożenie wielkich naczyń"]},"cs":{"name":"Vrozeně opravená transpozice velkých tepen","synonyms":["Diskordantní ventrikuloarteriální a atrioventrikulární spojení","Dvojitá diskordance","L-transpozice velkých tepen","Levo-transpozice velkých tepen","Ventrikulární inverze","Ventrikuloarteriální a atrioventrikulární diskordance","Vrozeně opravená transpozice velkých cév"]},"uk":{"name":"Вроджена кореговна танспозиція великих артерій (магістральних судин)","synonyms":["Вроджена корекція транспозиції магістральних судин","Дискордантні вентрикулоартеріальні та атріовентрикулярні зєднання","Подвійний дисонанс","Левостороння транспозиція великих артерій","L-транспозиція великих артерій","Інверсія шлуночків","Вентрикулоартеріальна та атріовентрикулярна дискоординація"],"definition":"Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations."},"zh":{"name":"先天矫正型大动脉转位","synonyms":["心室动脉与房室连接不一致"],"definition":"先天性矫正型大动脉转位（CCT）是一种罕见的心脏畸形，其特点是不一致的房室连接和心室动脉连接，常伴有其他心血管畸形。"},"tr":{"name":"Büyük arterlerin doğumsal düzeltilmiş transpozisyonu","synonyms":["Çift diskordans","Ventriküler inversiyon","Büyük arterlerin L-transpozisyonu","Büyük arterlerin levo transpozisyonu","Ventriküloarteriyel ve atriyoventriküler diskordans","Büyük damarların doğumsal düzeltilmiş transpozisyonu","Uyumsuz ventriküloarteriyel ve atriyoventriküler bağlantılar"]}},"xrefs":[{"source":"ICD-10","code":"Q20.5","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA85.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"254915185"},{"source":"MONDO","code":"0016301","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000080041","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0344616","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1544","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10011120","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":216675,"name":"Transposition of the great arteries","classifications":[147,148]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-14","source":"30760124[PMID]_29476598[PMID]_31027566[PMID]_31266912[PMID]_21569592[PMID]","terms":[{"hpo":"HP:0006705","label":"Abnormal atrioventricular valve morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011103","label":"Abnormal left ventricular outflow tract morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001702","label":"Abnormal tricuspid valve morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011553","label":"Discordant atrioventricular connection","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005150","label":"Abnormal atrioventricular conduction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011552","label":"Ambiguous atrioventricular connection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011539","label":"Atrial situs ambiguous","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001662","label":"Bradycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031546","label":"Cardiac conduction abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031567","label":"Abnormal aortic valve cusp morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011538","label":"Atrial situs inversus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011667","label":"Bilateral superior vena cava with bridging vein","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001651","label":"Dextrocardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011590","label":"Double aortic arch","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011581","label":"Double outlet left ventricle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003388","label":"Easy fatigability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010316","label":"Ebstein anomaly of the tricuspid valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011705","label":"First degree atrioventricular block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012537","label":"Food intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011621","label":"Gerbode ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005185","label":"Global systolic dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012722","label":"Heart block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011707","label":"Mobitz I atrioventricular block","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:0006699","label":"Premature atrial contractions","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004935","label":"Pulmonary artery atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011663","label":"Right ventricular cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011704","label":"Sick sinus syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001750","label":"Single ventricle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001696","label":"Situs inversus totalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004755","label":"Supraventricular tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011688","label":"Supraventricular tachycardia with an accessory connection mediated pathway","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001709","label":"Third degree atrioventricular block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001716","label":"Wolff-Parkinson-White syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004749","label":"Atrial flutter","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011599","label":"Mesocardia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004756","label":"Ventricular tachycardia","frequency":"Very rare (<4-1%)","criteria":null}]}}