{"orpha":99111,"name":"Persistent left superior vena cava connecting to the roof of left-sided atrium","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Persistent left SVC connecting to left-sided atrium","Persistent left SVC connecting to the roof of left-sided atrium","Persistent left superior vena cava connecting to left-sided atrium"],"definition":"A rare congenital anomaly of superior vena cava characterized by a persistent left superior vena cava that drains into the left atrium through a direct connection to its roof, creating a right-to-left shunt. Patients are at risk of developing chronic hypoxia, decreased exercise tolerance, cyanosis, embolic cerebrovascular events, and heart failure.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99111/","orphanet_url":"https://www.orpha.net/en/disease/detail/99111","names":{"fr":{"name":"Abouchement de la veine cave supérieure gauche dans le toit de l'oreillette gauche","definition":"Anomalie congénitale rare de la veine cave supérieure, caractérisée par la persistance du drainage veineux cave inférieur vers l'oreillette gauche directement à travers le toit de celle-ci, donnant lieu à un shunt droite-gauche. Les patients sont à risque d'hypoxie chronique, de moindre tolérance à l'exercice physique, de cyanose, d'événements cérébrovasculaires emboliques et d'insuffisance cardiaque."},"de":{"name":"Persistenz der linken Vena cava superior mit Verbindung zum dorsalen Bereich des linken Vorhofes","synonyms":["Persistierende LVCS mit Mündung in den linken Vorhof","Persistierende linke obere Hohlvene mit Mündung in den linken Vorhof","Persistierende linke obere Hohlvene mit Verbindung zum dorsalen Bereich des linken Vorhofes"],"definition":"Eine seltene angeborene Anomalie der oberen Hohlvene, die durch eine persistierende linke obere Hohlvene gekennzeichnet ist, die durch eine direkte Verbindung zu ihrem Dach in den linken Vorhof abfließt, wodurch ein Rechts-Links-Shunt entsteht. Bei den Patienten besteht das Risiko einer chronischen Hypoxie, einer verminderten Belastungstoleranz, einer Zyanose, embolischer zerebrovaskulärer Ereignisse und einer Herzinsuffizienz."},"es":{"name":"Vena cava superior izquierda persistente conectada al techo de la aurícula izquierda","synonyms":["VCS izquierda persistente conectada a la aurícula izquierda"],"definition":"Es una anomalía congénita poco frecuente de la vena cava superior caracterizada por una vena cava superior izquierda persistente que drena en la aurícula izquierda a través de una conexión directa con su techo, creando un cortocircuito de derecha a izquierda. Los pacientes corren el riesgo de desarrollar hipoxia crónica, disminución de la tolerancia al esfuerzo, cianosis, accidentes cerebrovasculares embólicos e insuficiencia cardíaca."},"it":{"name":"Persistenza della vena cava superiore sinistra connessa al tetto dell'atrio sinistro","definition":"Si tratta di un'anomalia congenita rara della vena cava superiore, caratterizzata da una vena cava superiore sinistra persistente che drena nell'atrio sinistro attraverso una connessione diretta al suo tetto, creando uno shunt destro-sinistro. I pazienti sono predisposti all'ipossia cronica, alla ridotta tolleranza all'esercizio, alla cianosi, agli eventi cerebrovascolari embolici e all'insufficienza cardiaca."},"nl":{"name":"Persisterende linker vena cava superior verbonden aan dak van linkeratrium","synonyms":["Persisterende linker VCS verbonden aan dak van linkeratrium","Persisterende linker VCS verbonden aan linkeratrium","Persisterende linker bovenste holle ader verbonden aan linkeratrium","Persisterende linker vena cava superior verbonden aan linkeratrium"],"definition":"Een zeldzame congenitale anomalie van vena cava superior, gekenmerkt door een persisterende linker bovenste holle ader die uitmondt in het linkeratrium door een directe verbinding met het dak van het atrium, waardoor een rechts-linksshunt ontstaat. Patiënten lopen risico op ontwikkeling van chronische hypoxie, verminderde inspanningstolerantie, cyanose, embolische cerebrovasculaire voorvallen, en hartfalen."},"pt":{"name":"Veia cava superior esquerda persistente do lado esquerdo da aurícula"},"pl":{"name":"Lewa żyła główna górna uchodząca do lewego przedsionka","synonyms":["Lewa SVC uchodząca do lewego przedsionka","Lewa żyła główna wchodząca do lewostronnego przedsionka"]},"cs":{"name":"Levá horní dutá žíla pokračující do levostranné síně","synonyms":["Levá SVC pokračující do levostranné síně","Levá vena cava superior pokračující do levostranné síně"]},"uk":{"name":"Додаткова верхня ліва порожниста вена, що дренується в склепіння ліворозташованого передсердя","synonyms":["Персистуюча ліва верхня порожниста вена зєднується з лівостороннім передсердям","Персистуючий лівий шлуночок, що зєднується з лівим передсердям","Персистуючий лівий SVC, що зєднується з дахом лівого передсердя"],"definition":"A rare congenital anomaly of superior vena cava characterized by a persistent left superior vena cava that drains into the left atrium through a direct connection to its roof, creating a right-to-left shunt. Patients are at risk of developing chronic hypoxia, decreased exercise tolerance, cyanosis, embolic cerebrovascular events, and heart failure."},"zh":{"name":"永存左上腔静脉连接冠状窦顶","synonyms":["永存左SVC连接左心房"]},"tr":{"name":"Sol taraftaki atriyumun üst tarafına bağlanan kalıcı sol superior vena kava","synonyms":["Sol taraftaki atriyumun çatısına bağlanan kalıcı sol SVC","Sol taraftaki atriyuma bağlanan kalıcı sol süperior vena kava","Sol taraftaki atriyuma bağlanan kalıcı sol SVC"]}},"xrefs":[{"source":"ICD-10","code":"Q26.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA86.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"320170224"},{"source":"MONDO","code":"0020442","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"20442","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680292","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":95498,"name":"Congenital anomaly of superior vena cava","classifications":[147,148,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}