{"Name":"Arrhythmogenic right ventricular cardiomyopathy","DiseaseID__c":"GARD:0005847","id":5847,"encodedName":"arrhythmogenic-right-ventricular-cardiomyopathy","IsDeleted":false,"Disease_Name_Full__c":"Arrhythmogenic right ventricular cardiomyopathy","Xref_IDs__c":"281170005; C0349788; C84571; D019571; DOID:0050431; MEDGEN:87618; MONDO:0016587; NBK1131; ORPHA:247","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"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":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016587","Disease_Description__c":"A heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.","GARD_Name__c":"Arrhythmogenic right ventricular cardiomyopathy","GARD_Synonym__c":"arrhythmogenic cardiomyopathy; arrhythmogenic right ventricular dysplasia; arrhythmogenic right ventricular dysplasia/cardiomyopathy; arrhythmogenic rvd; arvc; arvc cardiomyopathy; arvd; cardiomyopathy, arvc; right ventricular dysplasia","Curated_Disease_Description_Source__c":"GARD:0005847","Curated_Disease_Description__c":"Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death. ARVC may not cause any symptoms in its early stages. However, affected individuals may still be at risk of sudden death, especially during strenuous exercise. When symptoms occur, they most commonly include a sensation of fluttering or pounding in the chest (palpitations), light-headedness, and fainting (syncope). Over time, ARVC can also cause shortness of breath and abnormal swelling in the legs or abdomen. If the myocardium becomes severely damaged in the later stages of the disease, it can lead to heart failure.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:247","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016587","ORPHANET_ID__c":"ORPHA:247","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miocardiopatía arritmogénica hereditaria","Spanish_Description_Source__c":"ORPHA:247","Spanish_Description__c":"Es una enfermedad del músculo cardíaco consistente en una distrofia progresiva principalmente del miocardio ventricular derecho con reemplazo fibroadiposo y dilatación ventricular. Clínicamente está caracterizada por arritmias ventriculares y riesgo de muerte súbita cardíaca.","Spanish_Disease_Name__c":"miocardiopatía arritmogénica hereditaria","Spanish_GARD_Synonym__c":"cardiomiopatía arritmogénica hereditaria; mca","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":"Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death. ARVC may not cause any symptoms in its early stages. However, affected individuals may still be at risk of sudden death, especially during strenuous exercise. When symptoms occur, they most commonly include a sensation of fluttering or pounding in the chest (palpitations), light-headedness, and fainting (syncope). Over time, ARVC can also cause shortness of breath and abnormal swelling in the legs or abdomen. If the myocardium becomes severely damaged in the later stages of the disease, it can lead to heart failure.","Curated_Disease_Description_Source__c":"GARD:0005847","GARD_Synonym__c":"arrhythmogenic cardiomyopathy; arrhythmogenic right ventricular dysplasia; arrhythmogenic right ventricular dysplasia/cardiomyopathy; arrhythmogenic rvd; arvc; arvc cardiomyopathy; arvd; cardiomyopathy, arvc; right ventricular dysplasia","Name":"Arrhythmogenic right ventricular cardiomyopathy","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"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":"SADS Foundation","Website__c":"https://www.sads.org/"},{"Account_Name__c":"Cardiomyopathy Association","Website__c":"https://www.cardiomyopathy.org/"},{"Account_Name__c":"LMNA Cardiac Diseases Network","Website__c":"https://www.lmnacardiac.org/"}],"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:247"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:247"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0349788"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/247","Source__c":"C0349788; MONDO:0016587; ORPHA:247","Xref__c":"ORPHA:247"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050431","Source__c":"MONDO:0016587","Xref__c":"DOID:0050431"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=87618","Source__c":"C0349788","Xref__c":"MEDGEN:87618"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C019571","Source__c":"C0349788; MONDO:0016587","Xref__c":"D019571"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=281170005","Source__c":"MONDO:0016587","Xref__c":"281170005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0349788","Source__c":"C0349788","Xref__c":"C0349788"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84571","Source__c":"C0349788; MONDO:0016587","Xref__c":"C84571"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016587","Source__c":"GARD:0005847","Xref__c":"MONDO:0016587"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=253528005","Source__c":"C0349788","Xref__c":"253528005"},{"URL__c":"https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy","Source__c":"GARD:0005847","Xref__c":"https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1131","Source__c":"Gene Review","Xref__c":"NBK1131"}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Cardiology","Pediatrics"],"Account":["Cardiomyopathy"]},"synonyms":["arrhythmogenic cardiomyopathy"," arrhythmogenic right ventricular dysplasia"," arrhythmogenic right ventricular dysplasia/cardiomyopathy"," arrhythmogenic rvd"," arvc"," arvc cardiomyopathy"," arvd"," cardiomyopathy, arvc"," right ventricular dysplasia"]}