{"orpha":1329,"name":"Complete atrioventricular septal defect","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["CAVC","Complete AVSD","Complete atrioventricular canal","Complete atrioventricular canal defect","Complete atrioventricular septal defect with atrial and ventricular components"],"definition":"A rare, congenital cardiac anomaly characterized by a common atrioventricular junction with a common AV valve, an interatrial communication just above the common AV valve (ostium primum defect), a posterior interventricular communication (inlet VSD), that results in shunting at both the atrial and ventricular level. Morphologically, the common atrioventricular valve has 4 or 5 leaflets including superior and inferior bridging leaflets with a single annulus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1329/","orphanet_url":"https://www.orpha.net/en/disease/detail/1329","names":{"fr":{"name":"Canal atrioventriculaire complet","synonyms":["CAVC","Communication atrioventriculaire complète","Communication auriculo-ventriculaire complète","Défaut complet du septum atrioventriculaire","Défaut complet du septum atrioventriculaire avec composantes auriculaires et ventriculaires","Défaut septal atrioventriculaire complet","Défaut septal auriculo-ventriculaire complet"],"definition":"Anomalie cardiaque congénitale rare caractérisée par une jonction atrioventriculaire avec une valve AV commune, une communication inter-auriculaire située au-dessus de la valve AV commune (de type ostium primum), une communication interventriculaire postérieure (CIV dite « d'admission ») entraînant un shunt au niveau auriculaire et ventriculaire. Sur le plan morphologique, on observe un anneau auriculo-ventriculaire commun avec la valve auriculo-ventriculaire de quatre ou cinq feuillets, comprenant les feuillets de pontage supérieur et inférieur."},"de":{"name":"Atrioventrikulärer Septumdefekt, kompletter","synonyms":["CAVC","Kompletter AV-Kanal","Kompletter AVSD"],"definition":"Eine seltene, angeborene Herzanomalie, die durch eine gemeinsame atrioventrikuläre Verbindung mit einer gemeinsamen AV-Klappe, eine interatriale Verbindung direkt über der gemeinsamen AV-Klappe (Ostium-Primum-Defekt) und eine hintere interventrikuläre Verbindung (Einlass-VSD) gekennzeichnet ist, die zu Shuntings sowohl auf atrialer als auch auf ventrikulärer Ebene führt. Morphologisch gesehen hat die gemeinsame atrioventrikuläre Klappe 4 oder 5 Segel, einschließlich superiorer und inferiorer Überbrückungssegel mit einem einzigen Klappenring."},"es":{"name":"Canal auriculoventricular completo","definition":"Es una anomalía cardíaca congénita poco frecuente caracterizada por una conexión auriculoventricular común mediante una válvula AV común, una comunicación interauricular justo por encima de la válvula AV común (comunicación ostium primum) y una comunicación interventricular posterior (CIV de entrada), que provoca un cortocircuito a nivel tanto auricular como ventricular. Morfológicamente, la válvula auriculoventricular común presenta un único anillo con 4 ó 5 velos, incluyendo los acabalgados superior e inferior."},"it":{"name":"Difetto completo del setto atrioventricolare","synonyms":["AVSD completo","CAVC","Canale atrioventricolare completo","Difetto completo del setto atrioventricolare con componenti atriali e ventricolari","Difetto del canale atrioventricolare completo"],"definition":"Il difetto completo del setto atrioventricolare (CAVSD) è una cardiopatia congenita rara, caratterizzata da una giunzione atrioventricolare comune con una valvola AV comune, una comunicazione interatriale appena al di sopra della valvola AV comune (difetto di tipo ostium primum) e una comunicazione interventricolare posteriore (VSD di afflusso), che causa uno shunt sia a livello atriale che ventricolare. Dal punto di vista morfologico, la valvola atrioventricolare comune ha 4 o 5 lembi, compresi i lembi a ponte superiore e inferiore, con un singolo anello."},"nl":{"name":"Totaal atrioventriculair septumdefect","synonyms":["Totaal AVSD","Totaal atrioventriculair septumdefect met atriale en ventriculaire componenten","CAVC","Compleet atrioventriculair kanaal","Compleet atrioventriculair kanaaldefect"],"definition":"Een zeldzame, congenitale anomalie van hart, gekarakteriseerd door een gemeenschappelijke atrioventriculaire junctie met een gemeenschappelijke atrioventriculaire klep, een interatriale communicatie net boven de gemeenschappelijke atrioventriculaire klep (defect van ostium primum), en een posterieure interventriculaire communicatie (instroomdefect van ventrikelseptum), met shunting ter hoogte van zowel atrium als ventrikel tot gevolg. Morfologisch heeft de gemeenschappelijke atrioventriculaire klep 4 of 5 klepbladen, waaronder 'superior bridging' en 'inferior bridging' klepbladen met enkelvoudige annulus."},"pt":{"name":"Defeito septal auriculo-ventricular completo","synonyms":["AVSD completo"]},"pl":{"name":"Całkowity ubytek przedsionkowo-komorowy","synonyms":["Całkowity ubytek przegrody przedsionkowo-komorowej"]},"cs":{"name":"Kompletní atrioventrikulární kanál","synonyms":["CAVC","Kompletní defekt atrioventrikulárního septa","Kompletní AVSD","Společný atrioventrikulární kanál"]},"uk":{"name":"Повний дефект атріовентрикулярної перегородки","synonyms":["CAVC","Повний атріовентрикулярний канал","Повна вада атріовентрикулярного каналу","Повний дефект атріовентрикулярної перегородки з передсердним та шлуночковим компонентами","Повна комплектація AVSD"],"definition":"A rare, congenital cardiac anomaly characterized by a common atrioventricular junction with a common AV valve, an interatrial communication just above the common AV valve (ostium primum defect), a posterior interventricular communication (inlet VSD), that results in shunting at both the atrial and ventricular level. Morphologically, the common atrioventricular valve has 4 or 5 leaflets including superior and inferior bridging leaflets with a single annulus."},"zh":{"name":"完全型房室间隔缺损","synonyms":["完全性房室管缺损"]},"tr":{"name":"Tam atriyoventriküler septal defekt","synonyms":["CAVC","Tam AVSD","Tam atriyoventriküler kanal defekti"]}},"xrefs":[{"source":"ICD-10","code":"Q21.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA87.43","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"551617570"},{"source":"MONDO","code":"0015273","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0344787","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1454","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":99066,"name":"OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98722,"name":"Atrioventricular septal defect","classifications":[147,148,156]}],"children":[{"orpha":99067,"name":"Complete atrioventricular septal defect with ventricular hypoplasia","type":"Clinical subtype"},{"orpha":576227,"name":"Complete atrioventricular septal defect without ventricular hypoplasia","type":"Clinical subtype"},{"orpha":99068,"name":"Complete atrioventricular septal defect-tetralogy of Fallot","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"GATA4","name":"GATA binding protein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18672102[PMID]_17643447[PMID]","hgnc":"4173","ensembl":"ENSG00000136574","omim":"600576","loci":["8p23.1"],"via":{"orpha":99067,"name":"Complete atrioventricular septal defect with ventricular hypoplasia"}},{"symbol":"GATA4","name":"GATA binding protein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18672102[PMID]_17643447[PMID]","hgnc":"4173","ensembl":"ENSG00000136574","omim":"600576","loci":["8p23.1"],"via":{"orpha":99068,"name":"Complete atrioventricular septal defect-tetralogy of Fallot"}},{"symbol":"GATA6","name":"GATA binding protein 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20581743[PMID]","hgnc":"4174","ensembl":"ENSG00000141448","omim":"601656","loci":["18q11.2"],"via":{"orpha":99067,"name":"Complete atrioventricular septal defect with ventricular hypoplasia"}},{"symbol":"CRELD1","name":"CRELD disulfide isomerase 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"12632326[PMID]_15096951[PMID]","hgnc":"14630","ensembl":"ENSG00000163703","omim":"607170","loci":["3p25.3"],"via":{"orpha":99067,"name":"Complete atrioventricular septal defect with ventricular hypoplasia"}},{"symbol":"CRELD1","name":"CRELD disulfide isomerase 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"12632326[PMID]_15096951[PMID]","hgnc":"14630","ensembl":"ENSG00000163703","omim":"607170","loci":["3p25.3"],"via":{"orpha":99068,"name":"Complete atrioventricular septal defect-tetralogy of Fallot"}},{"symbol":"MEF2C","name":"myocyte enhancer factor 2C","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"35719119[PMID]","hgnc":"6996","ensembl":"ENSG00000081189","omim":"600662","loci":["5q14.3"],"via":{"orpha":576227,"name":"Complete atrioventricular septal defect without ventricular hypoplasia"}},{"symbol":"NR2F2","name":"nuclear receptor subfamily 2 group F member 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"24702954[PMID]","hgnc":"7976","ensembl":"ENSG00000185551","omim":"107773","loci":["15q26.2"],"via":{"orpha":99067,"name":"Complete atrioventricular septal defect with ventricular hypoplasia"}},{"symbol":"NR2F2","name":"nuclear receptor subfamily 2 group F member 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"24702954[PMID]","hgnc":"7976","ensembl":"ENSG00000185551","omim":"107773","loci":["15q26.2"],"via":{"orpha":99068,"name":"Complete atrioventricular septal defect-tetralogy of Fallot"}}],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"Europe","status":"Validated","source":"16722604[PMID]_[EXPERT]"},{"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":"2021-07-08","source":"32965865[PMID]_16722604[PMID]","terms":[{"hpo":"HP:0001674","label":"Complete atrioventricular canal defect","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0010445","label":"Primum atrial septal defect","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003115","label":"Abnormal EKG","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031650","label":"Abnormal atrioventricular valve physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005120","label":"Abnormal cardiac atrium morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025447","label":"Displacement of the papillary muscles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012382","label":"Left-to-right shunt","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030973","label":"Postexertional malaise","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030950","label":"Pulmonary venous hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031664","label":"Systolic heart murmur","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","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:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030864","label":"Intercostal retractions","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001708","label":"Right ventricular failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001667","label":"Right ventricular hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030828","label":"Wheezing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031595","label":"Abnormal P wave","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001678","label":"Atrioventricular block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030830","label":"Crackles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030848","label":"Elevated jugular venous pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004890","label":"Elevated pulmonary artery pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100786","label":"Hypersomnia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011712","label":"Right bundle branch block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031658","label":"Third heart sound","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very rare (<4-1%)","criteria":null}]}}