{"Name":"MVP1","DiseaseID__c":"GARD:0003688","id":3688,"encodedName":"mvp1","IsDeleted":false,"Disease_Name_Full__c":"MVP1","Xref_IDs__c":"C1834819; MEDGEN:320443; MONDO:0024529","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"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":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:157700","Disease_Description__c":"Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP ({14:Freed et al., 1999}; {16:Grau et al., 2007}; {9:Delling and Vasan, 2014}).\\n\\n{16:Grau et al. (2007)} provided a detailed review of the genetics of mitral valve prolapse. {9:Delling and Vasan (2014)} reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis.\\n\\n<Subhead> Genetic Heterogeneity of Familial Mitral Valve Prolapse\\n\\nThe locus for MVP1 has been mapped to chromosome 16p; the locus for MVP2 ({607829}) has been mapped to chromosome 11p.\\n\\nMitral valve prolapse-3 (MVP3; {610840}) is caused by mutation in the DZIP1 gene ({608671}) on chromosome 13q32.","GARD_Name__c":"MVP1","GARD_Synonym__c":"barlow syndrome; click-murmur syndrome; floppy mitral valve; mitral regurgitation, familial; mitral valve prolapse 1; mitral valve prolapse, familial; myxomatous mitral valve prolapse 1; myxomatous valvular disease, familial","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Mitral valve prolapse 1 (MVP1) is a condition where the mitral valve in the heart doesn't work properly. It is diagnosed when the movement of the mitral leaflets exceeds 2 mm and can cause a midsystolic click and/or a late systolic murmur (both refer to specific sounds that occur during a specific phase of the heartbeat cycle). Most people with MVP1 have a normal life expectancy, but some may develop complications such as congestive heart failure, bacterial endocarditis (an infection of the inner heart lining or valves), atrial fibrillation (irregular heart rate), thromboembolism (a blood vessel blockage caused by a clot that has traveled through the blood stream), and even sudden death. MVP1 follows an autosomal dominant pattern of inheritance and is caused by changes on chromosome 16p.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:157700","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0024529","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Mitral valve prolapse 1 (MVP1) is a condition where the mitral valve in the heart doesn't work properly. It is diagnosed when the movement of the mitral leaflets exceeds 2 mm and can cause a midsystolic click and/or a late systolic murmur (both refer to specific sounds that occur during a specific phase of the heartbeat cycle). Most people with MVP1 have a normal life expectancy, but some may develop complications such as congestive heart failure, bacterial endocarditis (an infection of the inner heart lining or valves), atrial fibrillation (irregular heart rate), thromboembolism (a blood vessel blockage caused by a clot that has traveled through the blood stream), and even sudden death. MVP1 follows an autosomal dominant pattern of inheritance and is caused by changes on chromosome 16p.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"barlow syndrome; click-murmur syndrome; floppy mitral valve; mitral regurgitation, familial; mitral valve prolapse 1; mitral valve prolapse, familial; myxomatous mitral valve prolapse 1; myxomatous valvular disease, familial","Name":"MVP1","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Heart Association","Website__c":"https://www.heart.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Congenital Heart Disease","Tag_Category__c":"Specialist","curated_tag_name":"Congenital heart disease"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003688","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=320443","Source__c":"C1834819","Xref__c":"MEDGEN:320443"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1834819","Source__c":"C1834819","Xref__c":"C1834819"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0024529","Source__c":"GARD:0003688","Xref__c":"MONDO:0024529"}],"tags":{"Specialist":["Congenital Heart Disease"]},"synonyms":["barlow syndrome"," click-murmur syndrome"," floppy mitral valve"," mitral regurgitation, familial"," mitral valve prolapse 1"," mitral valve prolapse, familial"," myxomatous mitral valve prolapse 1"," myxomatous valvular disease, familial"]}