{"orpha":439,"name":"Isolated right ventricular hypoplasia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-439/","orphanet_url":"https://www.orpha.net/en/disease/detail/439","names":{"fr":{"name":"Hypoplasie ventriculaire droite isolée","definition":"Une anomalie rare du développement embryonnaire caractérisée par un sous-développement du ventricule droit associé à un foramen ovale perméable ou à une communication interauriculaire et à des valves tricuspides et pulmonaires normalement développées. La pathologie se manifeste par une cyanose sévère, une insuffisance cardiaque congestive et, dans les cas graves, le décès au début de la petite enfance."},"de":{"name":"Rechtsventrikuläre Hypoplasie, isolierte Form"},"es":{"name":"Hipoplasia ventricular derecha aislada","definition":"Es una malformación cardíaca congénita poco frecuente caracterizada por un escaso desarrollo del ventrículo derecho, junto con foramen oval permeable o comunicación interauricular, y válvulas pulmonares y tricúspides normales. Se manifiesta con cianosis, insuficiencia cardíaca congestiva y, en casos graves, con fallecimiento en la primera infancia."},"it":{"name":"Ipoplasia isolata del ventricolo destro","definition":"L'ipoplasia isolata del ventricolo destro (IRVH) è una cardiopatia congenita rara (si veda questo termine), caratterizzata da iposviluppo del ventricolo destro, associata ad un forame ovale pervio o alla comunicazione interatriale (si vedano questi termini); la tricuspide e le valvole polmonari sono normali. L'IRVH esordisce con cianosi importante, insufficienza cardiaca congestizia; nei casi più gravi, esita nel decesso nella prima infanzia."},"nl":{"name":"Geïsoleerde rechterventrikelhypoplasie","definition":"Geïsoleerde rechterventrikelhypoplasie (IRVH) is een zeldzame, congenitale hartmalformatie (zie deze term) die gekarakteriseerd wordt door onderontwikkeling van het rechterventrikel, geassocieerd met persisterend foramen ovale of interauriculaire communicatie (zie deze termen) en normaal ontwikkelde tricuspidalis- en pulmonaliskleppen. IRVH manifesteert zich met ernstige cyanose, congestief hartfalen, en in ernstige gevallen overlijden in de vroege zuigelingentijd."},"pt":{"name":"Hipoplasia do ventrículo direito isolada"},"pl":{"name":"Hipoplazja prawej komory"},"cs":{"name":"Izolovaná hypoplázie pravé komory"},"uk":{"name":"Ізольована гіпоплазія правого шлуночка","definition":"Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation (see this term) characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication (see these terms) and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy."},"zh":{"name":"孤立性右心室发育不全"},"tr":{"name":"İzole sağ ventriküler hipoplazi"}},"xrefs":[{"source":"OMIM","code":"277200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q22.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA88.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2088837187"},{"source":"MONDO","code":"0010179","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535682","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848587","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4721","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98723,"name":"Hypoplastic right heart syndrome","classifications":[147,148]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-08-19","source":"30805240[PMID]_33123333[PMID]","terms":[{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001694","label":"Right-to-left shunt","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001217","label":"Clubbing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030718","label":"Right atrial enlargement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001708","label":"Right ventricular failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031664","label":"Systolic heart murmur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005150","label":"Abnormal atrioventricular conduction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012383","label":"Bidirectional shunt","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011623","label":"Muscular ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011712","label":"Right bundle branch block","frequency":"Occasional (29-5%)","criteria":null}]}}