{"Name":"Primary dilated cardiomyopathy","DiseaseID__c":"GARD:0000221","id":221,"encodedName":"primary-dilated-cardiomyopathy","IsDeleted":false,"Disease_Name_Full__c":"Primary dilated cardiomyopathy","Xref_IDs__c":"195021004; C0007193; C84673; D002311; DOID:12930; I42.0; MEDGEN:2880; MONDO:0005021; ORPHA:217604","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":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0005021","Disease_Description__c":"Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure.","GARD_Name__c":"Primary dilated cardiomyopathy","GARD_Synonym__c":"cardiomyopathy, dilated; ccm - congestive cardiomyopathy; cocm - congestive cardiomyopathy; congestive cardiomyopathy; congestive dilated cardiomyopathy; dcm; dcm - dilated cardiomyopathy; dilated cardiomyopathy; stretched and thinned heart muscle","Curated_Disease_Description_Source__c":"GARD:0000221","Curated_Disease_Description__c":"Dilated cardiomyopathy (DCM) is a disease of the heart muscle which primarily affects the heart's main pumping chamber, the left ventricle. It is the most common type of cardiomyopathy. The left ventricle of affected individuals becomes enlarged (dilated) and cannot pump blood to the body with as much force as a healthy heart can. The heart muscle also has difficulty contracting normally, which can lead to irregular heartbeats (arrhythmia), blood clots, or sudden death. Over time, the heart becomes weaker and heart failure can occur. While the cause of Dilated cardiomyopathy is often unknown (idiopathic), some cases are acquired and roughly half are inherited or familial. Also, DCM can be a feature of many genetic syndromes. Familial Dilated cardiomyopathy is most often inherited in an autosomal dominant pattern. Familial Dilated cardiomyopathy is caused by genetic changes in several different genes, most commonly in the TTN gene (found in about 20% of cases).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:217604","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0005021","ORPHANET_ID__c":"ORPHA:217604","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miocardiopatía dilatada","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"miocardiopatía dilatada","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97929","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":"Dilated cardiomyopathy (DCM) is a disease of the heart muscle which primarily affects the heart's main pumping chamber, the left ventricle. It is the most common type of cardiomyopathy. The left ventricle of affected individuals becomes enlarged (dilated) and cannot pump blood to the body with as much force as a healthy heart can. The heart muscle also has difficulty contracting normally, which can lead to irregular heartbeats (arrhythmia), blood clots, or sudden death. Over time, the heart becomes weaker and heart failure can occur. While the cause of Dilated cardiomyopathy is often unknown (idiopathic), some cases are acquired and roughly half are inherited or familial. Also, DCM can be a feature of many genetic syndromes. Familial Dilated cardiomyopathy is most often inherited in an autosomal dominant pattern. Familial Dilated cardiomyopathy is caused by genetic changes in several different genes, most commonly in the TTN gene (found in about 20% of cases).","Curated_Disease_Description_Source__c":"GARD:0000221","GARD_Synonym__c":"cardiomyopathy, dilated; ccm - congestive cardiomyopathy; cocm - congestive cardiomyopathy; congestive cardiomyopathy; congestive dilated cardiomyopathy; dcm; dcm - dilated cardiomyopathy; dilated cardiomyopathy; stretched and thinned heart muscle","Name":"Primary dilated cardiomyopathy","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Cardiomyopathy Foundation","Website__c":"https://www.childrenscardiomyopathy.org/"},{"Account_Name__c":"Cardiomyopathy Association Australia","Website__c":"https://www.cmaa.org.au/"},{"Account_Name__c":"Cardiomyopathy Association","Website__c":"https://www.cardiomyopathy.org/"},{"Account_Name__c":"Team Titin","Website__c":"https://titinmyopathy.com/"},{"Account_Name__c":"American Heart Association","Website__c":"https://www.heart.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:217604"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0340427"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0007193","Source__c":"C0007193","Xref__c":"C0007193"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84673","Source__c":"C0007193; MONDO:0005021","Xref__c":"C84673"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A12930","Source__c":"MONDO:0005021","Xref__c":"DOID:12930"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=2880","Source__c":"C0007193","Xref__c":"MEDGEN:2880"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/I42.0","Source__c":"MONDO:0005021","Xref__c":"I42.0"},{"URL__c":"https://www.orpha.net/en/disease/detail/217604","Source__c":"C0007193; MONDO:0005021; ORPHA:217604","Xref__c":"ORPHA:217604"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=195021004","Source__c":"C0007193; MONDO:0005021","Xref__c":"195021004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C002311","Source__c":"C0007193; MONDO:0005021","Xref__c":"D002311"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001644","Source__c":"C0007193","Xref__c":"HP:0001644"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=399020009","Source__c":"C0007193","Xref__c":"399020009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0005021","Source__c":"GARD:0000221","Xref__c":"MONDO:0005021"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1309","Source__c":"Gene Review","Xref__c":"NBK1309"}],"tags":{"Specialist":["Cardiology","Pediatrics"],"Account":["Cardiomyopathy"]},"synonyms":["cardiomyopathy, dilated"," ccm - congestive cardiomyopathy"," cocm - congestive cardiomyopathy"," congestive cardiomyopathy"," congestive dilated cardiomyopathy"," dcm"," dcm - dilated cardiomyopathy"," dilated cardiomyopathy"," stretched and thinned heart muscle"]}