{"orpha":1207,"name":"Pulmonary atresia with ventricular septal defect","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1207/","orphanet_url":"https://www.orpha.net/en/disease/detail/1207","names":{"fr":{"name":"Syndrome d'atrésie pulmonaire-communication interventriculaire","definition":"Malformation cardiaque congénitale cyanogène rare, caractérisée par un développement insuffisant de la voie d'éjection du ventricule droit et une atrésie de la valve pulmonaire, une communication interventriculaire (CIV) et un développement de vaisseaux collatéraux pulmonaires. Les caractéristiques cliniques varient selon la forme anatomique de la lésion et les patients peuvent être peu symptomatiques, dans un état de cyanose grave ou développer une insuffisance cardiaque congestive. Cette cardiopathie peut représenter une forme sévère de tétralogie de Fallot."},"de":{"name":"Pulmonalatresie mit Ventrikelseptumdefekt"},"es":{"name":"Atresia pulmonar con comunicación interventricular","definition":"Es una cardiopatía congénita cianótica poco frecuente caracterizada por un insuficiente desarrollo del tracto de salida del ventrículo derecho y atresia de la válvula pulmonar, la comunicación interventricular (VSD) y el desarrollo de vasos colaterales pulmonares. Los hallazgos clínicos dependen de la variabilidad anatómica de la lesión y los afectados pueden estar mínimamente sintomáticos, notablemente cianóticos o desarrollar insuficiencia cardíaca congestiva. Esta cardiopatía puede representar una forma grave de tetralogía de Fallot."},"it":{"name":"Atresia polmonare - difetto del setto interventricolare","definition":"L'atresia polmonare associata al difetto del setto ventricolare (PA-VSD) è una cardiopatia congenita cianotizzante rara, caratterizzata dall'iposviluppo del tratto di efflusso ventricolare destro, dall'atresia della valvola polmonare, dal difetto del setto ventricolare (VSD) e da vasi collaterali polmonari. I segni clinici dipendono dalla variabilità anatomica della lesione; i pazienti possono presentare sintomi minimi, essere gravemente cianotici o sviluppare un'insufficienza cardiaca congestizia. La PA-VSD può essere presente nella forma grave della tetralogia di Fallot (si veda questo termine)."},"nl":{"name":"Pulmonale atresie met ventrikelseptumdefect","definition":"Pulmonale atresie met ventrikelseptumdefect (PA-VSD) is een zeldzame, cyanotische, congenitale hartmalformatie die gekarakteriseerd wordt door onderontwikkeling van de uitstroombaan van het rechterventrikel en atresie van de pulmonalisklep, ventrikelseptumdefect (VSD) en pulmonale collaterale bloedvaten. De klinische kenmerken hangen af van de anatomische variabiliteit van het letsel en patiënten kunnen minimaal symptomatisch of ernstig cyanotisch zijn, of kunnen congestief hartfalen ontwikkelen. PA-VSD vertegenwoordigt mogelijk een ernstige vorm van tetralogie van Fallot (zie deze term)."},"pt":{"name":"Atresia pulmonar com defeito do septo ventricular"},"pl":{"name":"Atrezja tętnicy płucnej z ubytkiem przegrody międzykomorowej"},"cs":{"name":"Atrézie plicnice s defektem komorového septa"},"uk":{"name":"Атрезія легеневої артерії з дефектом міжшлуночкової перетинки","definition":"Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot (see this term)."},"zh":{"name":"肺动脉闭锁合并室间隔缺损"},"tr":{"name":"Ventriküler septal defektli pulmoner atrezi"}},"xrefs":[{"source":"OMIM","code":"178370","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q25.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA88.21","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1645917296"},{"source":"MONDO","code":"0008343","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562833","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0344976","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4588","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2445,"name":"Conotruncal heart malformations","classifications":[147,148]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":30.0,"area":"Worldwide","status":"Validated","source":"32502030[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}