{"orpha":1055,"name":"Congenital left ventricular aneurysm","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare congenital non-syndromic heart malformation characterized by a bulging of the left ventricular wall, connected to the left ventricle by a wide neck (with a ratio of the connection to the body of the anomaly >1). The dimensions of aneurysms have been described as small as 0.5 cm in diameter and as big as 8x9 cm in size. Most frequent locations are the left ventricular apex and the perivalvular area. Aneurysms can be a- or dyskinetic or show almost normal contractility. Patients may remain asymptomatic or present with systemic embolization, congestive heart failure, valvular regurgitation, ventricular wall rupture, ventricular tachycardia, or sudden cardiac death.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1055/","orphanet_url":"https://www.orpha.net/en/disease/detail/1055","names":{"fr":{"name":"Anévrysme congénital ventriculaire gauche","definition":"Malformation cardiaque congénitale non syndromique rare caractérisée par une protubérance au niveau de la paroi ventriculaire gauche, reliée au ventricule gauche par un collet large (ratio de la communication au coeur de l'anomalie > 1). Les plus petits anévrysmes décrits ont un diamètre de 0,5 cm et les plus grands ont une taille de 8x9 cm. Les localisations les plus fréquentes sont l'apex du ventricule gauche et la zone périvalvulaire. Les anévrysmes peuvent présenter des segments akinétiques ou dyskinétiques, ou une contraction presque normale. Les patients peuvent rester asymptomatiques ou présenter des embolies systémiques, une insuffisance cardiaque congestive, une régurgitation valvulaire, une rupture de la paroi ventriculaire, une tachycardie ventriculaire ou un arrêt cardiorespiratoire."},"de":{"name":"Fetales Aneurysma des linken Ventrikels","definition":"Eine angeborene nicht-syndromale Fehlbildung des Herzens, die durch eine Ausbuchtung der linken Kammerwand gekennzeichnet ist, die durch einen breiten Hals mit dem linken Ventrikel verbunden ist (mit einem Verhältnis der Verbindung zum Körper der Anomalie >1). Die Größe der beschriebenen Aneurysmen reicht von 0,5 cm im Durchmesser bis zu einer Größe von 8x9 cm. Die häufigsten Lokalisationen sind die linke Herzspitze und der perivalvuläre Bereich. Aneurysmen können a- oder dyskinetisch sein oder eine fast normale Kontraktilität aufweisen. Die Patienten können asymptomatisch bleiben oder eine systemische Embolie, Herzinsuffizienz, Herzklappeninsuffizienz, eine Ruptur der Ventrikelwand, ventrikuläre Tachykardie oder einen plötzlichen Herztod aufweisen."},"es":{"name":"Aneurisma congénito ventricular izquierdo","definition":"Es una malformación cardíaca congénita poco frecuente no sindrómica caracterizada por una protuberancia de la pared ventricular izquierda, conectada al ventrículo izquierdo por un cuello ancho (con una relación de la conexión con el cuerpo de la anomalía >1). Las dimensiones de los aneurismas descritos oscilan entre 0,5 cm de diámetro y un tamaño de 8x9 cm. Las localizaciones más frecuentes son el vértice del ventrículo izquierdo y la zona perivalvular. Los aneurismas pueden ser aquinéticos o disquinéticos o mostrar una contractilidad casi normal. Los pacientes pueden permanecer asintomáticos o presentar embolia sistémica, insuficiencia cardíaca congestiva, regurgitación valvular, rotura de la pared ventricular, taquicardia ventricular o muerte súbita cardíaca."},"it":{"name":"Aneurisma congenito del ventricolo destro","definition":"Si tratta di una cardiopatia congenita rara non sindromica, caratterizzata da una protuberanza della parete del ventricolo sinistro, connessa al ventricolo sinistro da un ampio collo (rapporto della connessione al corpo dell'anomalia >1). Il diametro degli aneurismi è compreso tra 0,5 cm e 8x9 cm. In genere si localizzano sull'apice del ventricolo sinistro e nella regione perivalvolare. Gli aneurismi sono acinetici o discinetici, oppure hanno una contrattilità quasi normale. I pazienti possono essere asintomatici o presentare embolizzazione sistemica, insufficienza cardiaca congestizia, rigurgito valvolare, rottura della parete ventricolare, tachicardia ventricolare o morte cardiaca improvvisa."},"nl":{"name":"Congenitaal linkerventrikelaneurysma","definition":"Een zeldzame congenitale niet-syndromale hartmalformatie, gekenmerkt door uitpuiling van de wand van het linkerventrikel, die is verbonden aan het linkerventrikel door een brede hals (met een verhouding tussen verbinding en lichaam van de anomalie kleiner dan 1). De dimensies van beschreven aneurysmata gaan van een diameter van 0,5 cm tot een omvang van 8x9 cm. De meest frequente locaties zijn de apex van linkerventrikel en het perivalvulaire gebied. Aneurysmata kunnen akinetisch of dyskinetisch zijn, of nagenoeg normale contractiliteit vertonen. Patiënten kunnen asymptomatisch blijven, of zich presenteren met systemische embolisatie, congestief hartfalen, regurgitatie van hartkleppen, ruptuur van ventrikelwand, ventriculaire tachycardie, of plotse hartdood."},"pt":{"name":"Aneurisma ventricular esquerdo congénito"},"pl":{"name":"Tętniak lewej komory serca płodu","definition":"Rzadka, wrodzona, niesyndromiczna wada serca, która charakteryzuje się uwypukleniem ściany lewej komory, połączonej z lewą komorą szeroką szyją (stosunek połączenia do trzonu anomalii sup 1). Opisane tętniaki miały wymiary od 0,5 cm (średnica) do 8x9 cm. Najczęstszą lokalizacją jest koniuszek lewej komory i okolica okołozastawkowa. Tętniaki mogą być a- lub dyskinetyczne lub wykazywać prawie normalną kurczliwość. Pacjenci mogą być bezobjawowi lub może u nich wystąpić zatorowość układowa, zastoinowa niewydolność serca, niedomykalność zastawek, pęknięcie ściany komory, częstoskurcz komorowy lub nagły zgon sercowy."},"cs":{"name":"Fatální aneuryzma levé komory srdeční"},"uk":{"name":"Вроджена аневризма лівого шлуночка","definition":"A rare congenital non-syndromic heart malformation characterized by a bulging of the left ventricular wall, connected to the left ventricle by a wide neck (with a ratio of the connection to the body of the anomaly >1). The dimensions of aneurysms have been described as small as 0.5 cm in diameter and as big as 8x9 cm in size. Most frequent locations are the left ventricular apex and the perivalvular area. Aneurysms can be a- or dyskinetic or show almost normal contractility. Patients may remain asymptomatic or present with systemic embolization, congestive heart failure, valvular regurgitation, ventricular wall rupture, ventricular tachycardia, or sudden cardiac death."},"zh":{"name":"先天性左心室室壁瘤"},"tr":{"name":"Doğumsal sol ventrikül anevrizması"}},"xrefs":[{"source":"ICD-10","code":"Q24.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA88.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"416161260"},{"source":"MONDO","code":"0021690","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0344915","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2305","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":88991,"name":"Rare congenital heart disease","classifications":[147,148]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":809.0,"area":"Worldwide","status":"Validated","source":"25782048[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-17","source":"1870816[PMID]_11231449[PMID]","terms":[{"hpo":"HP:0001711","label":"Abnormal left ventricle morphology","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012249","label":"Abnormal ST segment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005135","label":"Abnormal T-wave","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null}]}}