{"Name":"Pulmonary atresia with ventricular septal defect","DiseaseID__c":"GARD:0004588","id":4588,"encodedName":"pulmonary-atresia-with-ventricular-septal-defect","IsDeleted":false,"Disease_Name_Full__c":"Pulmonary atresia with ventricular septal defect","Xref_IDs__c":"253591008; C0344976; C562833; C99033; MEDGEN:87492; MONDO:0008343; OMIM:178370; ORPHA:1207","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008343","Disease_Description__c":"Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot (see this term).","GARD_Name__c":"Pulmonary atresia with ventricular septal defect","GARD_Synonym__c":"pavsd - pulmonary atresia with ventricular septal defect; pulmonary valve atresia with ventricular septal defect","Curated_Disease_Description_Source__c":"MONDO:0008343","Curated_Disease_Description__c":"Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot (see this term).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:1207","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008343","ORPHANET_ID__c":"ORPHA:1207","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atresia pulmonar con comunicación interventricular","Spanish_Description_Source__c":"ORPHA:1207","Spanish_Description__c":"Es una cardiopatía congénita cianótica poco frecuente caracterizada por un insuficiente desarrollo del tracto de salida del ventrículo derecho y atresia de la válvula pulmonar, la comunicación interventricular (VSD) y el desarrollo de vasos colaterales pulmonares. Los hallazgos clínicos dependen de la variabilidad anatómica de la lesión y los afectados pueden estar mínimamente sintomáticos, notablemente cianóticos o desarrollar insuficiencia cardíaca congestiva. Esta cardiopatía puede representar una forma grave de tetralogía de Fallot.","Spanish_Disease_Name__c":"atresia pulmonar con comunicación interventricular","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":"Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot (see this term).","Curated_Disease_Description_Source__c":"MONDO:0008343","GARD_Synonym__c":"pavsd - pulmonary atresia with ventricular septal defect; pulmonary valve atresia with ventricular septal defect","Name":"Pulmonary atresia with ventricular septal defect","estimateUsa":""}],"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C99033","Source__c":"C0344976; MONDO:0008343","Xref__c":"C99033"},{"URL__c":"https://www.orpha.net/en/disease/detail/1207","Source__c":"C0344976; MONDO:0008343; ORPHA:1207","Xref__c":"ORPHA:1207"},{"URL__c":"https://www.omim.org/entry/178370","Source__c":"C0344976; MONDO:0008343; ORPHA:1207","Xref__c":"OMIM:178370"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=87492","Source__c":"C0344976","Xref__c":"MEDGEN:87492"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0344976","Source__c":"C0344976","Xref__c":"C0344976"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562833","Source__c":"MONDO:0008343","Xref__c":"C562833"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=253591008","Source__c":"C0344976; MONDO:0008343","Xref__c":"253591008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008343","Source__c":"GARD:0004588","Xref__c":"MONDO:0008343"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:178370","Feature__r":{"HPO_Description__c":"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001629","HPO_Synonym__c":"Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD","HPO_Name__c":"Ventricular septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:178370","Feature__r":{"HPO_Description__c":"A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004935","HPO_Synonym__c":"Atresia of the pulmonary artery; Pulmonary atresia","HPO_Name__c":"Pulmonary artery atresia","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cardiology","Congenital Heart Disease"],"Disease Category":["Congenital Abnormality"]},"synonyms":["pavsd - pulmonary atresia with ventricular septal defect"," pulmonary valve atresia with ventricular septal defect"]}