{"orpha":1208,"name":"Pulmonary atresia-intact ventricular septum syndrome","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare cardiac malformation characterized by congenital either membranous or long segment muscular atresia of the right ventricular outflow tract in the absence of communication at the level of ventricles. The spectrum ranges from simple membranous pulmonary atresia with normal-appearing right ventricle (RV) to hypoplastic RV with abnormal connections between the RV and coronary arteries. Major presenting symptoms are cyanosis and desaturation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1208/","orphanet_url":"https://www.orpha.net/en/disease/detail/1208","names":{"fr":{"name":"Syndrome d'atrésie pulmonaire-septum ventriculaire intact","definition":"Malformation cardiaque rare caractérisée par une atrésie congénitale soit de la partie membraneuse, soit du long segment de la partie musculaire de la voie d'éjection du ventricule droit en l'absence de communication au niveau des ventricules. Le spectre va de la simple atrésie pulmonaire membraneuse avec un ventricule droit (VD) d'apparence normale à un ventricule droit hypoplasique avec des connexions anormales entre le ventricule droit et les artères coronaires. Les principaux symptômes sont la cyanose et la désaturation."},"de":{"name":"Pulmonalatresie mit intaktem Ventrikelseptum","synonyms":["PA-IVS"],"definition":"Eine seltene Fehlbildung des Herzens, die durch eine angeborene entweder membranöse oder langsegmentale muskuläre Atresie des rechtsventrikulären Ausflusstraktes mit fehlender Verbindung zwischen den Ventrikeln gekennzeichnet ist. Das Spektrum reicht von einer einfachen membranösen pulmonalen Atresie mit einem normal erscheinenden rechten Ventrikel (RV) bis zu einem hypoplastischen RV mit abnormen Verbindungen zwischen dem RV und den Koronararterien. Die Hauptsymptome sind Zyanose und Entsättigung."},"es":{"name":"Síndrome de atresia pulmonar-septo ventricular íntegro","definition":"Es una malformación cardíaca poco frecuente caracterizada por atresia congénita, bien membranosa o muscular con segmento largo del tracto de salida del ventrículo derecho en ausencia de comunicación interventricular. El espectro varía desde atresia pulmonar membranosa simple con ventrículo derecho (VD) de apariencia normal hasta VD hipoplásico con conexiones anómalas entre el VD y las arterias coronarias. Los principales síntomas de presentación son cianosis y desaturación."},"it":{"name":"Atresia polmonare - setto ventricolare integro","definition":"L'atresia polmonare associata al setto ventricolare integro (PA-IVS) è una forma rara di cardiopatia congenita cianotizzante, caratterizzata da cianosi grave e tachipnea. La PA-IVS presenta una significativa varietà morfologica: ad un'estremità dello spettro si posizionano i pazienti con ventricolo destro (RV) lievemente ipoplastico e tripartito e una lieve ipoplasia della valvola tricuspide (TV), mentre all'altra estremità si trovano i pazienti con grave ipoplasia di RV e TV, spesso con circolazione coronarica dipendente dal ventricolo destro."},"nl":{"name":"Pulmonale atresie - intact ventrikelseptum-syndroom","definition":"Een zeldzame malformatie van hart, gekenmerkt door congenitale membraneuze atresie of musculaire atresie van een lang segment van de uitstroombaan van het rechterventrikel in afwezigheid van communicatie ter hoogte van ventrikels. Het spectrum gaat van eenvoudige membraneuze pulmonale atresie met normaal uitziend rechterventrikel (RV) tot hypoplastisch RV met abnormale verbindingen tussen RV en kransslagaders. De voornaamste presenterende symptomen zijn cyanose en desaturatie."},"pt":{"name":"Síndrome de atresia pulmonar-septo ventricular íntegro","definition":"Malformação cardíaca rara caracterizada por atresia congénita membranosa ou muscular de segmento longo do trato de saída do ventrículo direito na ausência de comunicação a nível dos ventrículos. O espectro varia de atresia pulmonar membranosa simples com ventrículo direito (VD) de aparência normal a VD hipoplásico com comunicações anormais entre o VD e as artérias coronárias. Os principais sintomas de apresentação são cianose e dessaturação."},"pl":{"name":"Atrezja tętnicy płucnej bez ubytku przegrody międzykomorowej","definition":"Rzadka wada rozwojowa serca charakteryzująca się wrodzoną atrezją błoniastą lub atrezją długiego segmentu mięśniowego drogi odpływu z prawej komory, przy braku komunikacji na poziomie komór. Spektrum waha się od prostej błoniastej atrezji tętnicy płucnej z prawą komorą o prawidłowym wyglądzie aż do hipoplazji prawej komory z jej nieprawidłowymi połączeniami z tętnicami wieńcowymi. Głównymi objawami są sinica i desaturacja."},"cs":{"name":"Syndrom zahrnující pulmonální atrézii a intaktní komorové septum"},"uk":{"name":"Синдром атрезії легеневої перегородки з інтактною міжшлуночковою перегородкою","definition":"A rare cardiac malformation characterized by congenital either membranous or long segment muscular atresia of the right ventricular outflow tract in the absence of communication at the level of ventricles. The spectrum ranges from simple membranous pulmonary atresia with normal-appearing right ventricle (RV) to hypoplastic RV with abnormal connections between the RV and coronary arteries. Major presenting symptoms are cyanosis and desaturation."},"zh":{"name":"肺动脉瓣闭锁-室间隔完整综合征"},"tr":{"name":"Pulmoner atrezi-intakt ventriküler septum sendromu"}},"xrefs":[{"source":"OMIM","code":"265150","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q22.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA8A.10","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"131289265"},{"source":"MONDO","code":"0009931","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562832","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0344975","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4600","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98723,"name":"Hypoplastic right heart syndrome","classifications":[147,148]},{"orpha":98719,"name":"Pulmonary artery or pulmonary branch anomaly","classifications":[147,148,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.5,"area":"United Kingdom","status":"Validated","source":"9714114[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.2,"area":"Sweden","status":"Validated","source":"11515692[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"United Kingdom","status":"Validated","source":"9714114[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Sweden","status":"Validated","source":"11515692[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001702","label":"Abnormal tricuspid valve morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009800","label":"Maternal diabetes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004935","label":"Pulmonary artery atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null}]}}