{"orpha":97214,"name":"Eisenmenger syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare respiratory disease associated with unoperated congenital heart disease and characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97214/","orphanet_url":"https://www.orpha.net/en/disease/detail/97214","names":{"fr":{"name":"Syndrome d'Eisenmenger","definition":"Maladie respiratoire rare associée à une cardiopathie congénitale ne pouvant faire l'objet d'une correction chirurgicale, caractérisée par des malformations cardiaques congénitales avec inversion ou bidirectionnalité du flux à travers une communication intracardiaque ou intervasculaire (généralement aorto-pulmonaire) associée à une hypertension artérielle pulmonaire (HTAP)."},"de":{"name":"Eisenmenger-Syndrom","definition":"Eine seltene Atemwegserkrankung in Verbindung mit einem angeborenen Herzfehler, der nicht chirurgisch korrigiert werden kann, gekennzeichnet durch angeborene Herzfehler mit umgekehrtem oder bidirektionalem Fluss durch eine intrakardiale oder intervaskuläre (meist aorto-pulmonale) Kommunikation, die mit pulmonal-arterieller Hypertonie (PAH) einhergeht."},"es":{"name":"Síndrome de Eisenmenger","definition":"Es una enfermedad respiratoria poco frecuente asociada a una cardiopatía congénita no operada y caracterizada por malformaciones cardíacas congénitas con cortocircuitos derecha-izquierda o bidireccionales a través de una comunicación intracardiaca o intervascular (por lo general aorto-pulmonar) junto con el desarrollo de HAP."},"it":{"name":"Sindrome di Eisenmenger","definition":"Si tratta di una malattia respiratoria rara, associata a una cardiopatia congenita inoperabile, caratterizzata da malformazioni cardiache congenite con shunt inverso o bidirezionale con comunicazione intracardiaca o intervascolare (in genere aorto-polmonare). Si associa a ipertensione arteriosa polmonare (PAH)."},"nl":{"name":"Syndroom van Eisenmenger","definition":"Een zeldzame respiratoire ziekte, geassocieerd met niet-geopereerde congenitale hartziekte, en gekarakteriseerd door congenitale hartmalformaties met omgekeerde of bidirectionele shunting door een intracardiale of intervasculaire (meestal aorto-pulmonale) verbinding, met ontwikkeling van PAH."},"pt":{"name":"Síndrome Eisenmenger","definition":"Doença respiratória rara associada a cardiopatia congénita não operada e caracterizada por malformações cardíacas congénitas com shunt reverso ou bidirecional através de uma comunicação intracardíaca ou intervascular (geralmente aortopulmonar) com o desenvolvimento de HAP (Hipertensão Arterial Pulmonar)."},"pl":{"name":"Zespół Eisenmengera"},"cs":{"name":"Eisenmengerův syndrom"},"uk":{"name":"Синдром Айзенменгера","definition":"A rare respiratory disease associated with unoperated congenital heart disease and characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH."},"zh":{"name":"艾森曼格综合征","definition":"一种罕见的呼吸系统疾病，与先天性心脏病未经手术治疗相关，其特征是先天性心脏畸形，包括心脏内或血管间（通常是主动脉-肺）的反向或双向分流，并伴有肺动脉高压。"},"tr":{"name":"Eisenmenger sendromu"}},"xrefs":[{"source":"ICD-10","code":"I27.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BB01.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"581886860"},{"source":"MONDO","code":"0019944","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0013743","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6323","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10058554","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":275803,"name":"Pulmonary arterial hypertension associated with congenital heart disease","classifications":[184,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Belgium","status":"Validated","source":"19725436[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-13","source":"29720395[PMID]_29776964[PMID]_29792339[PMID]_29939577[PMID]_23829793[PMID]","terms":[{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005110","label":"Atrial fibrillation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002875","label":"Exertional dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005317","label":"Increased pulmonary vascular resistance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005115","label":"Supraventricular arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004755","label":"Supraventricular tachycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031138","label":"Abnormal B-type natriuretic peptide level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001681","label":"Angina pectoris","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011604","label":"Aortopulmonary window","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006695","label":"Atrioventricular canal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001217","label":"Clubbing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030848","label":"Elevated jugular venous pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002105","label":"Hemoptysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030849","label":"Hepatojugular reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004840","label":"Hypochromic microcytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001891","label":"Iron deficiency anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012382","label":"Left-to-right shunt","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012398","label":"Peripheral edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011712","label":"Right bundle branch block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001708","label":"Right ventricular failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001694","label":"Right-to-left shunt","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004756","label":"Ventricular tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006689","label":"Bacterial endocarditis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030049","label":"Brain abscess","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007430","label":"Generalized edema","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100724","label":"Hypercoagulability","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002149","label":"Hyperuricemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005518","label":"Increased mean corpuscular volume","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004308","label":"Ventricular arrhythmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030828","label":"Wheezing","frequency":"Very rare (<4-1%)","criteria":null}]}}