{"orpha":99130,"name":"Congenital partial agenesis of pericardium","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99130/","orphanet_url":"https://www.orpha.net/en/disease/detail/99130","names":{"fr":{"name":"Anomalie congénitale partielle du péricarde","definition":"L'anomalie congénitale partielle du péricarde est une malformation cardiaque congénitale rare, le plus souvent asymptomatique, caractérisée par l'absence partielle du péricarde gauche. Elle s'accompagne parfois d'une douleur thoracique ou d'une dyspnée. Elle est généralement diagnostiquée de manière fortuite au cours d'une chirurgie ou à l'autopsie. Une hernie et une strangulation d'une partie du coeur peuvent survenir à travers le foramen du péricarde, conduisant à une ischémie aigüe du myocarde et à un risque de mort subite. L'atteinte du péricarde droit est rare."},"de":{"name":"Perikardagenesie, kongenitale, partielle","definition":"Eine seltene, meist asymptomatische, angeborene Herzfehlbildung, die hauptsächlich durch das teilweise Fehlen des linken Perikards gekennzeichnet ist. Sie geht gelegentlich mit Brustschmerzen oder Dyspnoe einher und wird meist zufällig während einer Operation oder Autopsie diagnostiziert. Es kann zu einer Herniation und Abschnürung eines Teils des Herzens durch das perikardiale Foramen kommen, was zu einer akuten myokardialen Ischämie und möglicherweise zum plötzlichen Tod führt. Eine rechtsseitige Perikardbeteiligung ist selten."},"es":{"name":"Agenesia parcial de pericardio congénita","definition":"La agenesia parcial de pericardio congénita es una malformación cardíaca poco frecuente, por lo general asintomática, caracterizada fundamentalmente por la ausencia parcial de pericardio izquierdo. En ocasiones, se asocia con dolor torácico o disnea y, habitualmente es diagnosticada de manera incidental en el curso de una intervención quirúrgica o en autopsia. Puede presentarse herniación y estrangulación de una porción del corazón a través del foramen pericárdico, resultando en una isquemia miocárdica aguda y una posible muerte súbita. Es infrecuente la afectación del lado derecho del pericardio."},"it":{"name":"Agenesia parziale congenita del pericardio","definition":"L'agenesia parziale congenita del pericardio è una malformazione cardiaca rara e per lo più asintomatica, caratterizzata dalla parziale assenza del pericardio sinistro. Occasionalmente si associa a dolore toracico o dispnea e di solito viene diagnosticata casualmente durante un intervento chirurgico o un'autopsia. Questo difetto può complicarsi con l'erniazione e lo strangolamento di una porzione del cuore attraverso il forame del pericardio, che esitano in un'ischemia acuta del miocardio e nella morte improvvisa. Raramente è interessato il pericardio destro."},"nl":{"name":"Congenitale partiële agenesie van pericard","definition":"Congenitale partiële agenesie van het pericard is een zeldzame, meestal asymptomatische, congenitale hartmalformatie die vooral wordt gekarakteriseerd door gedeeltelijke afwezigheid van het linker pericard. Soms is de ziekte geassocieerd met pijn in de borst of dyspnoe, en meestal wordt ze toevallig gediagnosticeerd tijdens chirurgie of bij autopsie. Herniatie en afklemming van een deel van het hart door de pericardiale opening kan voorkomen, en resulteren in myocardiale acute ischemie en mogelijk plots overlijden. Betrokkenheid van het rechter pericard komt maar zelden voor."},"pt":{"name":"Agenesia parcial do pericárdio congénita"},"pl":{"name":"Wrodzona częściowa agenezja osierdzia"},"cs":{"name":"Vrozená částečná ageneze perikardu"},"uk":{"name":"Вроджена часткова агенезія перикарда","definition":"Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare."},"zh":{"name":"先天性心包部分发育不全","definition":"先天性心包部分发育不全是一种罕见的先天性心脏畸形，其主要特征是左心包部分缺失，该病大多无症状，通常在手术或尸检中被偶然诊断。它偶尔会伴有胸痛或呼吸困难，通过心包孔可能会发生部分心肌的疝出和绞死，可能导致心肌急性缺血和猝死，右侧心包受累少见。"},"tr":{"name":"Perikardin doğumsal kısmi agenezi"}},"xrefs":[{"source":"ICD-10","code":"Q24.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA8D","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1742434564"},{"source":"MONDO","code":"0020455","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0345139","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2846,"name":"Congenital pericardium anomaly","classifications":[147,148]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}