{"orpha":1464,"name":"Univentricular heart","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Double inlet atrioventricular connection"],"definition":"A severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1464/","orphanet_url":"https://www.orpha.net/en/disease/detail/1464","names":{"fr":{"name":"Coeur univentriculaire","synonyms":["Connexion atrioventriculaire univentriculaire"],"definition":"Malformation cardiaque congénitale caractérisée par la présence d'auricules reliées partiellement ou entièrement à une seule cavité ventriculaire fonctionnelle. Les manifestations cliniques incluent insuffisance cardiaque congestive, retard de croissance, cyanose, hypoxie systémique et retard du développement. Les signes additionnels caractéristiques sont : calculs biliaires, diathèse hémorragiques et hyperviscosité (fatigue, céphalées, malaises/étourdissements, troubles visuels, paresthésies, myalgies, processus de pensée altéré). L'obésité est rare."},"de":{"name":"Herz, univentrikuläres","synonyms":["Univentrikuläre atrioventrikuläre Verbindung"],"definition":"Eine schwere angeborene Fehlbildung des Herzens, bei der beide Vorhöfe vollständig oder fast vollständig mit einer funktionell einzigen Herzkammer verbunden sind. Zu den klinischen Symptomen gehören Herzinsuffizienz, Wachstumsstörungen, Zyanose, Hypoxämie und neurologische Entwicklungsstörungen."},"es":{"name":"Corazón univentricular","synonyms":["Conexión auriculoventricular de doble entrada"],"definition":"Es una malformación cardíaca congénita grave que se caracteriza porque las dos aurículas están asociadas en su totalidad o casi en su totalidad con una única cámara ventricular funcional. Las manifestaciones clínicas incluyen insuficiencia cardíaca congestiva, retraso del desarrollo, cianosis, hipoxemia y trastornos del neurodesarrollo."},"it":{"name":"Cuore univentricolare","synonyms":["Connessione atrio-ventricolare a doppia entrata"]},"nl":{"name":"Univentriculair hart","synonyms":["Atrioventriculaire verbinding met dubbele instroom"],"definition":"Een ernstige congenitale malformatie van hart, gekenmerkt door het feit dat beide atria, volledig of nagenoeg volledig, gerelateerd zijn aan één functionele ventriculaire kamer. Klinische manifestaties zijn onder meer congestief hartfalen, niet-gedijen, cyanose, hypoxemie en neurologische ontwikkelingsstoornissen."},"pt":{"name":"Coração univentricular","synonyms":["Junção auriculoventricular de dupla entrada"]},"pl":{"name":"Serce jednokomorowe","synonyms":["Dwunapływowa lewa komora"]},"cs":{"name":"Jednokomorové srdce","synonyms":["Dvojvtoková levá komora"]},"uk":{"name":"Одношлуночкове серце","synonyms":["Атріовентрикулярне зєднання з подвійним входом"],"definition":"A severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities."},"zh":{"name":"单心室心脏","synonyms":["双出口左心室"]},"tr":{"name":"Univentriküler kalp","synonyms":["Çift girişli sol ventrikül"]}},"xrefs":[{"source":"ICD-10","code":"Q20.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA89.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1786413029"},{"source":"MONDO","code":"0015451","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000080039","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0152424","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10045545","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":99069,"name":"OBSOLETE: Univentricular heart with single atrio-ventricular valve","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":95483,"name":"Univentricular cardiopathy","classifications":[147,148]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.5,"area":"Worldwide","status":"Validated","source":"23705101[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-02","source":"32491721[PMID]_17296869[PMID]","terms":[{"hpo":"HP:0030950","label":"Pulmonary venous hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0034350","label":"Valvular pulmonary stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030148","label":"Heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002040","label":"Esophageal varix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Occasional (29-5%)","criteria":null}]}}