{"orpha":99129,"name":"Congenital complete agenesis of pericardium","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99129/","orphanet_url":"https://www.orpha.net/en/disease/detail/99129","names":{"fr":{"name":"Anomalie congénitale complète du péricarde","definition":"L'anomalie congénitale complète du péricarde est une malformation cardiaque congénitale rare, le plus souvent asymptomatique, caractérisée par l'absence complète du péricarde entier, ou par l'absence du péricarde droit (rare) ou gauche. Elle est parfois associée à une douleur thoracique (fréquent), une dyspnée, des étourdissements, une bradycardie et une syncope. Les manifestations lors de l'effort sont rares. La maladie est souvent diagnostiquée par hasard, au cours d'une opération, ou à l'autopsie."},"de":{"name":"Perikardagenesie, kongenitale, komplette","definition":"Die kongenitale komplette Perikardagenesie ist eine seltene, meist asymptomatische, angeborene Herzfehlbildung, die durch das vollständige Fehlen des gesamten Perikards oder durch das Fehlen entweder des rechten (selten) oder linken Perikards gekennzeichnet ist. Sie ist gelegentlich mit Brustschmerzen (häufig), Dyspnoe, Schwindel, Bradykardie und Synkope verbunden, während Belastungsmanifestationen selten sind. Die Erkrankung wird in der Regel zufällig während einer Operation oder bei einer Autopsie diagnostiziert."},"es":{"name":"Agenesia completa de pericardio congénita","definition":"La agenesia completa de pericardio congénita es una malformación cardíaca poco frecuente, por lo general asintomática, caracterizada bien por la ausencia completa de todo el pericardio, o bien del pericardio derecho (poco habitual) o del izquierdo. En ocasiones, se asocia con dolor torácico (común), disnea, mareo, bradicardia y síncope, mientras que las manifestaciones inducidas por el ejercicio son poco frecuentes. Habitualmente, la enfermedad se diagnostica de manera incidental en el curso de una intervención quirúrgica o en autopsia."},"it":{"name":"Agenesia completa congenita del pericardio","definition":"L'agenesia completa del pericardio è una malformazione cardiaca congenita rara e per lo più asintomatica, caratterizzata dalla totale assenza del pericardio, oppure dall'assenza del pericardio destro (rara) o del pericardio sinistro. Occasionalmente si associa a dolore toracico (comune), dispnea, vertigini, bradicardia e sincope, mentre i segni clinici da sforzo sono rari. Di solito la malattia viene diagnosticata casualmente durante un intervento chirurgico o un'autopsia."},"nl":{"name":"Congenitale volledige agenesie van pericard","definition":"Congenitale volledige agenesie van het pericard is een zeldzame, meestal asymptomatische, congenitale hartmalformatie die wordt gekarakteriseerd door volledige afwezigheid van het pericard, of door afwezigheid van ofwel het rechter (weinig voorkomend) ofwel het linker pericard. Soms is de ziekte geassocieerd met pijn in de borst (gebruikelijk), dyspnoe, duizeligheid, bradycardie en syncope (flauwvallen), terwijl manifestaties bij inspanning maar zelden voorkomen. De ziekte wordt meestal toevallig gediagnosticeerd tijdens chirurgie of bij autopsie."},"pt":{"name":"Agenesia completa do pericárdio, congénita"},"pl":{"name":"Wrodzona całkowita agnezaja osierdzia"},"cs":{"name":"Vrozená kompletní ageneze perikardu"},"uk":{"name":"Вроджена повна агенезія перикарда","definition":"Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy."},"zh":{"name":"先天性心包完全发育不全","definition":"先天性完全性心包发育不全是一种罕见的先天性心脏畸形，大多无症状。其特征是整个心包完全缺失，或者右(罕见)/左心包缺失。偶尔会伴有胸痛(较常见)、呼吸困难、头晕、心动过缓和晕厥，而劳累症状则很少见，这种疾病通常在手术或尸检中被偶然诊断。"},"tr":{"name":"Perikardın doğumsal tam 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":"1462683633"},{"source":"MONDO","code":"0020454","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0345140","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}