{"orpha":3400,"name":"Aorto-ventricular tunnel","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3400/","orphanet_url":"https://www.orpha.net/en/disease/detail/3400","names":{"fr":{"name":"Tunnel aorto-ventriculaire","definition":"Le tunnel aorto-ventriculaire est un canal extra-cardiaque congénital qui relie l'aorte ascendante au dessus de la jonction sino-tubulaire à la cavité ventriculaire gauche ou, moins souvent, droite."},"de":{"name":"Aorto-ventrikulärer Tunnel","definition":"Der Aorto-ventrikuläre Tunnel ist ein angeborener, extrakardialer Kanal, der die aufsteigende Aorta oberhalb der sino-tubulären Junktion mit der Höhle des linken (seltener des rechten) Ventrikels verbindet."},"es":{"name":"Túnel ventrículo izquierdo-aorta","definition":"Es una malformación congénita que consiste en la presencia de un canal extracardiaco que conecta la aorta ascendente por encima de la unión sinotubular a la cavidad del ventrículo izquierdo, o (más raramente) del derecho."},"it":{"name":"Tunnel aorto-ventricolare"},"nl":{"name":"Aortoventriculaire tunnel","definition":"Een congenitaal, extracardiaal kanaal dat aorta ascendens boven de sinotubulaire overgang verbindt met de holte van linker- of (minder gangbaar) rechterventrikel."},"pt":{"name":"Túnel aorta-ventrículo"},"pl":{"name":"Tunel aortalno-komorowy"},"cs":{"name":"Aortoventrikulární tunel"},"uk":{"name":"Аорто-лівошлуночковий тунель","definition":"A congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle."},"zh":{"name":"主动脉-心室隧道"},"tr":{"name":"Aorto-ventriküler tünel"}},"xrefs":[{"source":"ICD-10","code":"Q20.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA8A.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"470594532"},{"source":"MONDO","code":"0018082","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000082903","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4023262","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98725,"name":"Ascending aorta anomaly","classifications":[147,148,198]}],"children":[{"orpha":99071,"name":"Aorto-left ventricular tunnel","type":"Clinical subtype"},{"orpha":99070,"name":"Aorto-right ventricular tunnel","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":130.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-07-29","source":"17922908[PMID]","terms":[{"hpo":"HP:0011627","label":"Aorto-ventricular tunnel","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001714","label":"Ventricular hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001679","label":"Abnormal aortic morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006704","label":"Abnormal coronary artery morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002616","label":"Aortic root aneurysm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Occasional (29-5%)","criteria":null}]}}