{"Name":"Hypoplastic left heart syndrome","DiseaseID__c":"GARD:0006739","id":6739,"encodedName":"hypoplastic-left-heart-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hypoplastic left heart syndrome","Xref_IDs__c":"423022565; 62067003; C0152101; C98894; D018636; DOID:9955; MEDGEN:57746; MONDO:0004933; OMIMPS:241550; ORPHA:2248; Q23.4","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0004933","Disease_Description__c":"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.","GARD_Name__c":"Hypoplastic left heart syndrome","GARD_Synonym__c":"heart left ventricle hypoplasia; hlh - hypoplastic left heart syndrome; hlhs; hlhs - hypoplastic left heart syndrome; hypoplastic left heart; hypoplastic left ventricle; left ventricular hypoplasia; underdeveloped left heart","Curated_Disease_Description_Source__c":"GARD:0006739","Curated_Disease_Description__c":"Hypoplastic left heart syndrome (HLHS) is a heart condition present from birth (congenital heart defect). In HLHS, the heart's left side (including the aorta, aortic valve, left ventricle and mitral valve) is underdeveloped. At birth, oxygen-rich blood bypasses the underdeveloped left side of the heart, going through openings between the left and right side that normally close a few days after birth (the patent ductus arteriosus and the patent foramen ovale). The right side of the heart then pumps blood to the lungs and the body. Therefore, there may be no symptoms for a few days. However, when these openings close, oxygen-rich blood cannot easily get to the rest of the body. Symptoms then develop quickly, and may include problems breathing, pounding heart, weak pulse, and/or an ashen or bluish skin color. Some children with HLHS also have other heart defects, such as an atrial septal defect. In most children with HLHS, the cause is not known. In some children, isolated HLHS is known to be genetic. These cases may be due to genetic changes in the GJA1 gene with autosomal recessive inheritance, or the NKX2-5 gene with autosomal dominant inheritance. HLHS has also been reported with certain genetic disorders including Turner syndrome, Jacobsen syndrome, trisomy 13, and trisomy 18.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:2248","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0004933","ORPHANET_ID__c":"ORPHA:2248","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome del corazón izquierdo hipoplásico","Spanish_Description_Source__c":"ORPHA:2248","Spanish_Description__c":"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.","Spanish_Disease_Name__c":"síndrome del corazón izquierdo hipoplásico","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Hypoplastic left heart syndrome (HLHS) is a heart condition present from birth (congenital heart defect). In HLHS, the heart's left side (including the aorta, aortic valve, left ventricle and mitral valve) is underdeveloped. At birth, oxygen-rich blood bypasses the underdeveloped left side of the heart, going through openings between the left and right side that normally close a few days after birth (the patent ductus arteriosus and the patent foramen ovale). The right side of the heart then pumps blood to the lungs and the body. Therefore, there may be no symptoms for a few days. However, when these openings close, oxygen-rich blood cannot easily get to the rest of the body. Symptoms then develop quickly, and may include problems breathing, pounding heart, weak pulse, and/or an ashen or bluish skin color. Some children with HLHS also have other heart defects, such as an atrial septal defect. In most children with HLHS, the cause is not known. In some children, isolated HLHS is known to be genetic. These cases may be due to genetic changes in the GJA1 gene with autosomal recessive inheritance, or the NKX2-5 gene with autosomal dominant inheritance. HLHS has also been reported with certain genetic disorders including Turner syndrome, Jacobsen syndrome, trisomy 13, and trisomy 18.","Curated_Disease_Description_Source__c":"GARD:0006739","GARD_Synonym__c":"heart left ventricle hypoplasia; hlh - hypoplastic left heart syndrome; hlhs; hlhs - hypoplastic left heart syndrome; hypoplastic left heart; hypoplastic left ventricle; left ventricular hypoplasia; underdeveloped left heart","Name":"Hypoplastic left heart syndrome","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Conquering CHD","Website__c":"https://www.conqueringchd.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"American Heart Association","Website__c":"https://www.heart.org"},{"Account_Name__c":"Mended Hearts","Website__c":"https://mendedhearts.org/"},{"Account_Name__c":"The Children's Heart Foundation","Website__c":"https://www.childrensheartfoundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Congenital Heart Disease","Tag_Category__c":"Specialist","curated_tag_name":"Congenital heart disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2248"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2248"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/CCHD"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0152101"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006739","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C018636","Source__c":"C0152101; MONDO:0004933","Xref__c":"D018636"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS241550","Source__c":"MONDO:0004933","Xref__c":"OMIMPS:241550"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=62067003","Source__c":"C0152101; MONDO:0004933","Xref__c":"62067003"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A9955","Source__c":"MONDO:0004933","Xref__c":"DOID:9955"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q23.4","Source__c":"MONDO:0004933","Xref__c":"Q23.4"},{"URL__c":"https://www.orpha.net/en/disease/detail/2248","Source__c":"C0152101; MONDO:0004933; ORPHA:2248","Xref__c":"ORPHA:2248"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98894","Source__c":"C0152101; MONDO:0004933","Xref__c":"C98894"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0152101","Source__c":"C0152101","Xref__c":"C0152101"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=57746","Source__c":"C0152101","Xref__c":"MEDGEN:57746"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0004383","Source__c":"C0152101","Xref__c":"HP:0004383"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0004933","Source__c":"GARD:0006739","Xref__c":"MONDO:0004933"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022565","Xref__c":"423022565"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2248","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital defect with failure to open of the mitral valve orifice.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011560","HPO_Synonym__c":"Mitral valve atresia","HPO_Name__c":"Mitral atresia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2248","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe congenital heart defect characterized by underdevelopment of the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004383","HPO_Synonym__c":"Heart left ventricle hypoplasia; Left ventricular hypoplasia; Underdeveloped left heart","HPO_Name__c":"Hypoplastic left ventricle","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2248","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of chromosome segregation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002916","HPO_Name__c":"Abnormality of chromosome segregation","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2248","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001643","HPO_Synonym__c":"Ductus arteriosus; Patent ductus Botalli; PDA; Persistent arterial duct; Persistent ductus arteriosus","HPO_Name__c":"Patent ductus arteriosus","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2248","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the arch of aorta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012304","HPO_Synonym__c":"Aortic arch hypoplasia; Underdeveloped aortic arch","HPO_Name__c":"Hypoplastic aortic arch","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2248","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal narrowing of the orifice of the mitral valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001718","HPO_Synonym__c":"Mitral valve stenosis","HPO_Name__c":"Mitral stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2248","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001631","HPO_Synonym__c":"An opening in the wall separating the top two chambers of the heart; ASD; Atria septal defect; Atrial septum defect; Atrioseptal defect; Defect in the atrial septum; Hole in heart wall separating two upper heart chambers","HPO_Name__c":"Atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cardiology","Congenital Heart Disease","Pediatrics"],"Disease Category":["Congenital Abnormality"]},"synonyms":["heart left ventricle hypoplasia"," hlh - hypoplastic left heart syndrome"," hlhs"," hlhs - hypoplastic left heart syndrome"," hypoplastic left heart"," hypoplastic left ventricle"," left ventricular hypoplasia"," underdeveloped left heart"],"spanishId":13563,"spanishName":"sindrome-del-corazon-izquierdo-hipoplasico"}