{"orpha":2248,"name":"Hypoplastic left heart syndrome","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["HLHS"],"definition":"A rare, congenital, non-syndromic, heart malformation characterized by under development of the left-sided cardiac structures (including left ventricle, ascending aorta, aortic arch, and mitral and/or aortic valve) such that the left heart is unable to provide adequate systemic cardiac output.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2248/","orphanet_url":"https://www.orpha.net/en/disease/detail/2248","names":{"fr":{"name":"Hypoplasie du coeur gauche","synonyms":["HLHS"],"definition":"Malformation cardiaque congénitale non syndromique rare caractérisée par un développement insuffisant des structures cardiaques gauches (dont le ventricule gauche, l'aorte ascendante, la crosse aortique et la valve aortique et/ou mitrale), empêchant le coeur gauche de fournir un débit cardiaque systémique adéquat."},"de":{"name":"Hypoplastisches Linksherzsyndrom","synonyms":["HLHS"],"definition":"Eine angeborene nicht-syndromale Fehlbildung des Herzens, die durch eine Unterentwicklung der linksseitigen Herzstrukturen (einschließlich der linken Herzkammer, der aufsteigenden Aorta, des Aortenbogens und der Mitral- und/oder Aortenklappe) gekennzeichnet ist, so dass das linke Herz nicht in der Lage ist, eine angemessene systemische Herzleistung zu erbringen."},"es":{"name":"Síndrome del corazón izquierdo hipoplásico","definition":"Es una malformación cardíaca no sindrómica, congénita y poco frecuente, caracterizada por un desarrollo insuficiente de las estructuras cardíacas del lado izquierdo (incluyendo el ventrículo izquierdo, la aorta ascendente, el arco aórtico y la válvula mitral y/o aórtica) de manera que el corazón izquierdo es incapaz de generar un gasto cardíaco sistémico adecuado."},"it":{"name":"Sindrome del cuore ipoplasico","synonyms":["HLHS"],"definition":"La sindrome del cuore sinistro ipoplastico (HLHS) è una cardiopatia congenita rara non sindromica, caratterizzata dall'iposviluppo delle strutture cardiache sinistre (ventricolo sinistro, aorta ascendente, arco aortico e valvola mitrale e/o aortica); di conseguenza, la porzione sinistra del cuore non è in grado di fornire una gittata cardiaca sufficiente."},"nl":{"name":"Hypoplastisch linkerhartsyndroom","synonyms":["HLHS"],"definition":"Een zeldzame, congenitale, niet-syndromale, hartmalformatie, gekarakteriseerd door onderontwikkeling van de linker structuren van het hart (inclusief linkerventrikel, aorta ascendens, aortaboog, en mitralis- en/of aortaklep) waardoor het linkerhart niet in staat is voldoende systemisch hartminuutvolume te leveren."},"pt":{"name":"Síndrome de coração esquerdo hipoplástico"},"pl":{"name":"Zespół hipoplazji lewego serca","synonyms":["HLHS"],"definition":"Rzadka, wrodzona, niesyndromiczna wada rozwojowa serca charakteryzująca się niedorozwojem struktur lewej strony serca (w tym lewej komory, aorty wstępującej, łuku aorty oraz zastawki mitralnej i/lub aorty), w wyniku czego lewe serce nie jest w stanie zapewnić odpowiedniej systemowej pojemności wyrzutowej."},"cs":{"name":"Syndrom hypoplázie levého srdce","synonyms":["HLHS"]},"uk":{"name":"Синдром гіпоплазії лівих відділів серця","synonyms":["HLHS"],"definition":"A rare, congenital, non-syndromic, heart malformation characterized by under development of the left-sided cardiac structures (including left ventricle, ascending aorta, aortic arch, and mitral and/or aortic valve) such that the left heart is unable to provide adequate systemic cardiac output."},"zh":{"name":"左心发育不良综合征","synonyms":["HLHS"]},"tr":{"name":"Hipoplastik sol kalp sendromu","synonyms":["HLHS"]}},"xrefs":[{"source":"OMIM","code":"241550","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"614435","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q23.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA89.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1811800027"},{"source":"MONDO","code":"0004933","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018636","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0152101","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6739","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10021076","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":95483,"name":"Univentricular cardiopathy","classifications":[147,148]}],"children":[],"genes":[{"symbol":"GJA1","name":"gap junction protein alpha 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"11470490[PMID]_19683641[PMID]_19298922[PMID]","hgnc":"4274","ensembl":"ENSG00000152661","omim":"121014","loci":["6q22.31"]},{"symbol":"NKX2-5","name":"NK2 homeobox 5","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"12798584[PMID]_14607454[PMID]_20456451[PMID]","hgnc":"2488","ensembl":"ENSG00000183072","omim":"600584","loci":["5q35.1"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.5,"area":"Portugal","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":12.5,"area":"Switzerland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":16.6,"area":"United Kingdom","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":22.3,"area":"Ukraine","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.9,"area":"Spain","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":18.0,"area":"Worldwide","status":"Not yet validated","source":"27409588[PMID]_30661430[PMID]_2339046[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":16.2,"area":"United States","status":"Validated","source":"2339046[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":15.1,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":49.1,"area":"Austria","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":29.1,"area":"Belgium","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":56.8,"area":"Croatia","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":21.3,"area":"Denmark","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.8,"area":"France","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":23.8,"area":"Germany","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":19.9,"area":"Hungary","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":18.1,"area":"Ireland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.9,"area":"Italy","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":49.8,"area":"Malta","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.8,"area":"Netherlands","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":16.4,"area":"Norway","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2011[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":9.2,"area":"Poland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.0,"area":"China","status":"Validated","source":"27409588[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.6,"area":"Sweden","status":"Validated","source":"30661430[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012304","label":"Hypoplastic aortic arch","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002916","label":"Abnormality of chromosome segregation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009800","label":"Maternal diabetes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011560","label":"Mitral atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001718","label":"Mitral stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null}]}}