{"Name":"Primary familial dilated cardiomyopathy","DiseaseID__c":"GARD:0020525","id":20525,"encodedName":"primary-familial-dilated-cardiomyopathy","IsDeleted":false,"Disease_Name_Full__c":"Primary familial dilated cardiomyopathy","Xref_IDs__c":"52029003; C0340427; C536231; MEDGEN:90951; MONDO:0016333; OMIMPS:115200; ORPHA:217607","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":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0016333","Disease_Description__c":"A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.","GARD_Name__c":"Primary familial dilated cardiomyopathy","GARD_Synonym__c":"familial dilated cardiomyopathy; fdc; hereditary dilated cardiomyopathy; hypokinetic dilated cardiomyopathy, familial","Curated_Disease_Description_Source__c":"MONDO:0016333","Curated_Disease_Description__c":"Dilated cardiomyopathy is a form of heart disease in which the heart (cardiac) muscle becomes thin and enlarged (dilated). The dilation, which typically starts in the lower left chamber of the heart (left ventricle), makes it harder for the heart to pump blood to the rest of the body. \r\n\r\nDilated cardiomyopathy is called nonsyndromic dilated cardiomyopathy when it cannot be explained by other causes, such as a heart attack or damage to the valves of the heart, and is not associated with signs and symptoms that affect other parts of the body.  \r\n\r\nThe signs and symptoms of nonsyndromic dilated cardiomyopathy vary among affected individuals, even among members of the same family. The signs and symptoms typically begin in mid-adulthood, but they can occur at any time from infancy to late adulthood. Affected individuals may have a sensation of fluttering or pounding in the chest (palpitations); shortness of breath, especially when lying down or during physical activity; fatigue; and swelling of the legs and feet. Affected individuals may also have episodes of dizziness or fainting (syncope). \r\n\r\nOver time, people with nonsyndromic dilated cardiomyopathy may develop life-threatening complications, which can include abnormal heart rhythms (arrhythmias) and heart failure. Although uncommon, sudden death can occur in people with nonsyndromic dilated cardiomyopathy, even if they have no other symptoms of the condition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:217607","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016333","ORPHANET_ID__c":"ORPHA:217607","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miocardiopatía dilatada familiar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"miocardiopatía dilatada familiar","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 is a form of heart disease in which the heart (cardiac) muscle becomes thin and enlarged (dilated). The dilation, which typically starts in the lower left chamber of the heart (left ventricle), makes it harder for the heart to pump blood to the rest of the body. \r\n\r\nDilated cardiomyopathy is called nonsyndromic dilated cardiomyopathy when it cannot be explained by other causes, such as a heart attack or damage to the valves of the heart, and is not associated with signs and symptoms that affect other parts of the body.  \r\n\r\nThe signs and symptoms of nonsyndromic dilated cardiomyopathy vary among affected individuals, even among members of the same family. The signs and symptoms typically begin in mid-adulthood, but they can occur at any time from infancy to late adulthood. Affected individuals may have a sensation of fluttering or pounding in the chest (palpitations); shortness of breath, especially when lying down or during physical activity; fatigue; and swelling of the legs and feet. Affected individuals may also have episodes of dizziness or fainting (syncope). \r\n\r\nOver time, people with nonsyndromic dilated cardiomyopathy may develop life-threatening complications, which can include abnormal heart rhythms (arrhythmias) and heart failure. Although uncommon, sudden death can occur in people with nonsyndromic dilated cardiomyopathy, even if they have no other symptoms of the condition.","Curated_Disease_Description_Source__c":"MONDO:0016333","GARD_Synonym__c":"familial dilated cardiomyopathy; fdc; hereditary dilated cardiomyopathy; hypokinetic dilated cardiomyopathy, familial","Name":"Primary familial dilated cardiomyopathy","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/phenotypicSeries/PS115200","Source__c":"MONDO:0016333","Xref__c":"OMIMPS:115200"},{"URL__c":"https://www.orpha.net/en/disease/detail/217607","Source__c":"C0340427; MONDO:0016333; ORPHA:217607","Xref__c":"ORPHA:217607"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536231","Source__c":"MONDO:0016333","Xref__c":"C536231"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0340427","Source__c":"C0340427","Xref__c":"C0340427"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=90951","Source__c":"C0340427","Xref__c":"MEDGEN:90951"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=52029003","Source__c":"C0340427","Xref__c":"52029003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016333","Source__c":"GARD:0020525","Xref__c":"MONDO:0016333"},{"URL__c":"https://medlineplus.gov/genetics/condition/familial-dilated-cardiomyopathy"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Cardiology"],"Account":["Cardiomyopathy"]},"synonyms":["familial dilated cardiomyopathy"," fdc"," hereditary dilated cardiomyopathy"," hypokinetic dilated cardiomyopathy, familial"]}