{"orpha":1330,"name":"Partial atrioventricular septal defect","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["PAVC","Partial AVSD","Partial atrioventricular canal defect"],"definition":"A rare congenital cardiac malformation that is a variant of an atrioventricular septal defect (AVSD) with an interatrial communication (ostium primum defect) just above the common atrioventricular (AV) valve, no interventricular communication just below the atrioventricular valve, a common atrioventricular junction but separate right and left atrioventricular valvar orifices, and a three-leaflet, left-sided component of the common atrioventricular valve (''cleft''). Shunting is restricted to the atrial level because of fusion of the leaflets of the common AV valve with the crest of the ventricular septum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1330/","orphanet_url":"https://www.orpha.net/en/disease/detail/1330","names":{"fr":{"name":"Canal atrioventriculaire partiel","synonyms":["PAVC","CAV partiel","Communication atrioventriculaire partielle","Communication auriculo-ventriculaire partielle","Défaut septal atrioventriculaire partiel","Défaut septal auriculo-ventriculaire partiel"],"definition":"Malformation cardiaque congénitale rare qui est une variante de l'anomalie du septum auriculaire (AVSD), avec une communication interauriculaire (de type ostium primum) située juste au-dessus de la valve auriculo-ventriculaire commune, l'absence de communication interventriculaire juste en dessous de la valve auriculo-ventriculaire (AV), une jonction auriculo-ventriculaire commune, mais deux anneaux de valve auriculo-ventriculaire (AV) distincts, et une valve AV gauche de trois feuillets protégeant la composante ventriculaire gauche de la jonction AV commune (« fente »). Le shunt est réduit au niveau auriculaire en raison de la fusion des feuillets de la valve AV commune avec la crête du septum ventriculaire."},"de":{"name":"Atrioventrikulärer Septumdefekt, partieller","synonyms":["Atrioventrikulärer Kanal, partieller","PAVC","Partieller AVSD"],"definition":"Eine seltene angeborene Fehlbildung des Herzens, bei der es sich um eine Variante eines atrioventrikulären Septumdefekts (AVSD) mit einer interatrialen Verbindung (Ostium-Primum-Defekt) direkt über der gemeinsamen atrioventrikulären (AV) Klappe, fehlender interventrikulärer Verbindung direkt unter der atrioventrikulären Klappe, einer gemeinsamen atrioventrikulären Verbindung, aber getrennten rechten und linken atrioventrikulären Klappenöffnungen und einer dreiblättrigen, linksseitigen Komponente der gemeinsamen atrioventrikulären Klappe (''cleft'') handelt. Der Shunt ist auf den Vorhof beschränkt, da die Klappen der gemeinsamen AV-Klappe mit dem Kamm des Ventrikelseptums verschmolzen sind."},"es":{"name":"Canal auriculoventricular parcial","synonyms":["CAVP","DSAV parcial","Defecto del septo auriculoventricular parcial","PAVC"],"definition":"Es una malformación cardíaca congénita poco frecuente, consistente en una variante de los defectos del septo aurículoventricular (DSAV), consistente en una comunicación interauricular tipo ostium primum (justo por encima de la válvula auriculoventricular -AV- común), ausencia de una comunicación interventricular por debajo de la válvula auriculoventricular, presencia de una unión auriculoventricular común aunque con orificios valvulares derecho e izquierdo separados, y un componente trivalva en el lado izquierdo de la válvula auriculoventricular común (''hendidura''). El cortocircuito se limita al nivel auricular debido a la fusión de las valvas de la válvula AV común con la cresta del tabique ventricular."},"it":{"name":"Difetto parziale del setto atrioventricolare","synonyms":["AVSD parziale","Difetto parziale del canale atrioventricolare","PAVC"],"definition":"Si tratta di una cardiopatia congenita rara, che rappresenta una variante del difetto del setto atrioventricolare (AVSD), caratterizzata da una comunicazione interatriale (difetto di tipo ostium primum) appena al di sopra della valvola atrioventricolare (AV) comune, in assenza di comunicazione interventricolare appena al di sotto della valvola atrioventricolare, con una giunzione atrioventricolare comune, ma con orifizi valvolari atrioventricolari destro e sinistro separati e una componente sinistra a tre lembi della valvola atrioventricolare comune (schisi). Lo shunt è limitato al livello atriale a causa della fusione dei lembi della valvola AV comune con la cresta del setto ventricolare."},"nl":{"name":"Partieel atrioventriculair septumdefect","synonyms":["PAVC","Partieel AVSD","Partieel defect van atrioventriculair kanaal"],"definition":"Een zeldzame congenitale hartmalformatie en een variant van atrioventriculair septumdefect (AVSD) met een interatriale communicatie (defect van ostium primum) net boven de gemeenschappelijke atrioventriculaire (AV) klep, geen interventriculaire communicatie net onder de atrioventriculaire klep, een gemeenschappelijke atrioventriculaire junctie maar apart rechter en linker atrioventriculair ostium, en een linkszijdige component van de gemeenschappelijke atrioventriculaire klep met drie klepbladen (''kloof''). Shunting is beperkt tot de atria als gevolg van fusie van de klepbladen van de gemeenschappelijke AV-klep met de rand van het ventrikelseptum."},"pt":{"name":"Canal auriculo-ventricular parcial"},"pl":{"name":"Częściowy kanał przedsionkowo-komorowy","synonyms":["PAVC","Partial AVSD","Partial atrioventricular canal defect"]},"cs":{"name":"Částečný atrioventrikulární kanál","synonyms":["PAVC","Částečný defekt atrioventrikulárního kanálu"]},"uk":{"name":"Часткова атріовентрикулярна комунікація","synonyms":["Часткова вада атріовентрикулярного каналу","Частковий AVSD","PAVC"],"definition":"A rare congenital cardiac malformation that is a variant of an atrioventricular septal defect (AVSD) with an interatrial communication (ostium primum defect) just above the common atrioventricular (AV) valve, no interventricular communication just below the atrioventricular valve, a common atrioventricular junction but separate right and left atrioventricular valvar orifices, and a three-leaflet, left-sided component of the common atrioventricular valve (''cleft''). Shunting is restricted to the atrial level because of fusion of the leaflets of the common AV valve with the crest of the ventricular septum."},"zh":{"name":"部分房室间隔缺损","synonyms":["部分性房室管畸形"]},"tr":{"name":"Kısmi atriyoventriküler septal defekt","synonyms":["PAVC","Kısmi AVSD","Kısmi atriyoventriküler kanal defekti"]}},"xrefs":[{"source":"ICD-10","code":"Q21.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA87.40","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1159570489"},{"source":"MONDO","code":"0015275","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536112","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0344735","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4229","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98722,"name":"Atrioventricular septal defect","classifications":[147,148,156]}],"children":[{"orpha":576232,"name":"Partial atrioventricular septal defect with ventricular hypoplasia","type":"Clinical subtype"},{"orpha":576235,"name":"Partial atrioventricular septal defect without ventricular hypoplasia","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"CRELD1","name":"CRELD disulfide isomerase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"12632326[PMID]_15096951[PMID]_21080147[PMID]","hgnc":"14630","ensembl":"ENSG00000163703","omim":"607170","loci":["3p25.3"],"via":{"orpha":576235,"name":"Partial atrioventricular septal defect without ventricular hypoplasia"}},{"symbol":"GATA4","name":"GATA binding protein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17643447[PMID]","hgnc":"4173","ensembl":"ENSG00000136574","omim":"600576","loci":["8p23.1"],"via":{"orpha":576232,"name":"Partial atrioventricular septal defect with ventricular hypoplasia"}}],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"Europe","status":"Not yet validated","source":"23040494[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":30.0,"area":"Europe","status":"Validated","source":"[EXPERT]_17341403[PMID]_12084585[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-21","source":"29722020[PMID]_14762371[PMID]","terms":[{"hpo":"HP:0011577","label":"Partial atrioventricular canal defect","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0009020","label":"Exercise-induced muscle fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001702","label":"Abnormal tricuspid valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001681","label":"Angina pectoris","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010772","label":"Anomalous pulmonary venous return","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001692","label":"Atrial arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004749","label":"Atrial flutter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006689","label":"Bacterial endocarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011565","label":"Common atrium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031298","label":"Coronary sinus enlargement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001719","label":"Double outlet right ventricle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030853","label":"Heterotaxy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002326","label":"Transient ischemic attack","frequency":"Occasional (29-5%)","criteria":null}]}}