{"orpha":2445,"name":"Conotruncal heart malformations","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2445/","orphanet_url":"https://www.orpha.net/en/disease/detail/2445","names":{"fr":{"name":"Malformation cardiaque conotroncale","definition":"Groupe d'anomalies congénitales des gros vaisseaux cardiaques comprenant des malformations telles que, notamment, la tétralogie de Fallot, le syndrome d'atrésie pulmonaire avec communication interventriculaire, le ventricule droit à double issue (VDDI), le ventricule gauche à double issue (VGDI), le tronc artériel commun et la transposition des gros vaisseaux (TGA). On l'observe souvent chez les patients atteints du syndrome de délétion 22q11.2. L'association avec la délétion sur le chromosome 22q11.2 a également été observée dans un sous-ensemble de patients présentant différents types de malformations cardiaques conotronculaires isolées non syndromiques (à l'exception de ceux atteints de VDDI et de TGA, chez qui celle-ci est très rare)."},"de":{"name":"Herzfehler, konotrunkaler"},"es":{"name":"Malformaciones cardíacas conotruncales","definition":"Son un grupo de anomalías cardíacas congénitas del tracto de salida que incluyen defectos tales como la tetralogía de Fallot, la atresia pulmonar con comunicación interventricular, la doble salida del ventrículo derecho (DORV), la doble salida del ventrículo izquierdo, el truncus arterioso y la transposición de grandes vasos (TGV), entre otros. Estos defectos se encuentran con frecuencia en afectados por el síndrome de deleción 22q11.2. También se ha asociado la deleción 22q11.2 a un subconjunto de pacientes con diversos tipos de malformaciones cardíacas conotruncales aisladas no sindrómicas (con la excepción de DORV y TGV, donde ésta es muy poco frecuente)."},"it":{"name":"Cardiopatie troncoconali","definition":"Le cardiopatie troncoconali sono un gruppo di anomalie congenite del tratto di efflusso cardiaco, che comprendono la tetralogia di Fallot, l'atresia polmonare con difetto del setto ventricolare, il ventricolo destro a doppia uscita (DORV), il ventricolo sinistro a doppia uscita, il tronco arterioso e la trasposizione delle grandi arterie (TGA) (si vedano questi termini). Questo gruppo di difetti è spesso presente nei pazienti con sindrome da delezione 22q11.2 (si veda questo termine). La delezione del cromosoma 22q11.2 è stata anche associata, in un sottogruppo di pazienti, a diversi tipi di cardiopatie troncoconali isolate non sindromiche (ad eccezione del DORV e della TGA, che sono molto rare)."},"nl":{"name":"Conotruncale hartmalformaties","definition":"Een groep van congenitale anomalieën van de cardiale uitstroombanen met onder meer defecten zoals tetralogie van Fallot, pulmonale atresie met ventrikelseptumdefect, rechterventrikel met dubbele uitstroom (DORV), linkerventrikel met dubbele uitstroom (DOLV), truncus arteriosus en transpositie van de grote arteriën (TGA) (zie deze termen). Defecten van deze groep worden frequent aangetroffen bij patiënten met 22q11.2 deletiesyndroom. Een deletie van chromosoom 22q11.2 was eveneens geassocieerd in een deel van patiënten met verscheidene types van geïsoleerde, niet-syndromale, conotruncale hartmalformaties (met uitzondering van DORV en TGA, waarbij dit zeer ongewoon is)."},"pt":{"name":"Malformações cardíacas cono-truncais"},"pl":{"name":"Wady stożka i pnia naczyniowego"},"cs":{"name":"Konotrunkální srdeční malformace"},"uk":{"name":"Конотрункальні вади серця","definition":"A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon)."},"zh":{"name":"圆锥动脉干心脏畸形"},"tr":{"name":"Konotrunkal kalp malformasyonları"}},"xrefs":[{"source":"OMIM","code":"217095","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"0016581","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16581","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535464","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857586","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8189","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98717,"name":"Transposition of the great arteries and conotruncal cardiac anomaly","classifications":[147,148]}],"children":[{"orpha":1138,"name":"Abnormal origin of the pulmonary artery","type":"Clinical group"},{"orpha":3384,"name":"Common arterial trunk","type":"Morphological anomaly"},{"orpha":2037,"name":"Congenital aortopulmonary window","type":"Morphological anomaly"},{"orpha":3427,"name":"Double outlet left ventricle","type":"Morphological anomaly"},{"orpha":3426,"name":"Double outlet right ventricle","type":"Morphological anomaly"},{"orpha":1207,"name":"Pulmonary atresia with ventricular septal defect","type":"Morphological anomaly"},{"orpha":982,"name":"Pulmonary valve agenesis","type":"Clinical group"},{"orpha":3303,"name":"Tetralogy of Fallot","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}