{"orpha":448270,"name":"Ectopia cordis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Extrathoracic heart"],"definition":"A rare congenital non-syndromic heart malformation characterized by life-threatening complete or partial location of the heart outside the thoracic cavity. The main ectopic positions are thoracic but anterior to the sternum, abdominal, thoracoabdominal, and cervical. Associated abnormalities include sternal, diaphragmatic, pericardial, and abdominal wall defects, as well as intracardiac malformations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-448270/","orphanet_url":"https://www.orpha.net/en/disease/detail/448270","names":{"fr":{"name":"Ectopie cardiaque","synonyms":["Ectocardia","Ectopia cordis"],"definition":"Malformation cardiaque congénitale non syndromique rare et potentiellement létale, caractérisée par une malposition complète ou partielle du coeur en dehors de la cage thoracique. Les principales positions ectopiques sont thoraciques, mais antérieures au sternum, abdominales, thoraco-abdominales et cervicales. Les anomalies associées comprennent notamment des malformations du sternum, du diaphragme, du péricarde et de la paroi abdominale, ainsi que des malformations intracardiaques."},"de":{"name":"Ectopia cordis","synonyms":["Extrathorakales Herz"],"definition":"Eine lebensbedrohliche, angeborene, nicht-syndromale Fehlbildung des Herzens, bei der das Herz ganz oder teilweise außerhalb der Brusthöhle liegt. Die wichtigsten ektopen Positionen sind thorakal, aber vor dem Sternum, abdominal, thorakoabdominal und zervikal. Zu den damit verbundenen Anomalien gehören Sternum-, Zwerchfell-, Perikard- und Bauchwanddefekte sowie intrakardiale Fehlbildungen."},"es":{"name":"Ectopia cordis","synonyms":["Corazón extratorácico"],"definition":"Es una malformación cardíaca congénita no sindrómica, poco frecuente y potencialmente mortal. Está caracterizada por la ubicación completa o parcial del corazón fuera de la cavidad torácica. Las principales posiciones ectópicas son: torácica (anterior al esternón), abdominal, toracoabdominal y cervical. Las anomalías asociadas incluyen defectos del esternón, diafragma, pericárdio y de la pared abdominal, así como malformaciones intracardíacas."},"it":{"name":"Ectopia del cuore","synonyms":["Cuore extratoracico"],"definition":"Si tratta di una cardiopatia congenita non sindromica rara e potenzialmente letale, caratterizzata dalla collocazione completa o parziale del cuore al di fuori della cavità toracica, in genere in posizione toracica ma anteriormente rispetto allo sterno, in posizione addominale, toracoaddominale o cervicale. Si associa a difetti dello sterno, del diaframma, del pericardio e della parete addominale, e alle malformazioni intracardiache."},"nl":{"name":"Ectopia cordis","synonyms":["Extrathoracaal hart","Ectopisch hart"],"definition":"Een zeldzame, levensbedreigende congenitale niet-syndromale hartmalformatie, gekarakteriseerd door volledige of gedeeltelijke lokalisatie van hart buiten de thoraxholte. De voornaamste ectopische posities zijn thoracaal maar anterieur van sternum, abdominaal, thoracoabdominaal, en cervicaal. Geassocieerde afwijkingen zijn onder meer defecten van sternum, diafragma, pericard, en buikwand, alsook intracardiale malformaties."},"pt":{"name":"Ectopia cordis"},"pl":{"name":"Ektopia serca","synonyms":["Extrathoracic heart"]},"cs":{"name":"Ectopia cordis","synonyms":["Extrathoracic heart"]},"uk":{"name":"Ектопія пуповини","definition":"A rare, life-threatening, congenital non-syndromic heart malformation characterized by complete or partial location of the heart outside the thoracic cavity. The main ectopic positions are thoracic but anterior to the sternum, abdominal, thoracoabdominal, and cervical. Associated abnormalities include sternal, diaphragmatic, pericardial, and abdominal wall defects, as well as intracardiac malformations."},"zh":{"name":"异位心","definition":"一种罕见的，威胁生命的先天性非综合征性心脏畸形，其特征是心脏完全或部分位于胸腔之外。主要异位的位置在胸腔，但在胸骨前，腹腔，胸腹腔和颈前也可出现。相关异常包括胸骨，隔膜的，心包和腹壁缺损，以及心内畸形。"},"tr":{"name":"Ektopia kordis"}},"xrefs":[{"source":"ICD-10","code":"Q24.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"LA80.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"285576893"},{"source":"MONDO","code":"0018664","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054083","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0013580","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10014144","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97965,"name":"Rare surgical cardiac disease"},"parents":[{"orpha":98716,"name":"Heart position anomaly","classifications":[147,148]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.67,"area":"Worldwide","status":"Validated","source":"20965559[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}