{"Name":"Torsade-de-pointes syndrome with short coupling interval","DiseaseID__c":"GARD:0016651","id":16651,"encodedName":"torsade-de-pointes-syndrome-with-short-coupling-interval","IsDeleted":false,"Disease_Name_Full__c":"Torsade-de-pointes syndrome with short coupling interval","Xref_IDs__c":"718104007; C3150851; MEDGEN:462201; MONDO:0013317; OMIM:613600; ORPHA:51084","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0013317","Disease_Description__c":"A rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death.","GARD_Name__c":"Torsade-de-pointes syndrome with short coupling interval","GARD_Synonym__c":"torsade de pointes short coupled variant; torsade de pointes with short coupling interval syndrome; torsade de pointes, short-coupled variant","Curated_Disease_Description_Source__c":"MONDO:0013317","Curated_Disease_Description__c":"A rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:51084","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013317","ORPHANET_ID__c":"ORPHA:51084","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de torsade-de-pointes con intervalo de acoplamiento corto","Spanish_Description_Source__c":"ORPHA:51084","Spanish_Description__c":"Es una variante poco frecuente del Torsade-de-pointes, una taquicardia ventricular polimórfica caracterizada por un intervalo de acoplamiento corto del primer latido TdP en el electrocardiograma en ausencia de cardiopatías estructurales. Se manifiesta al inicio de la edad adulta con síncope, que suele resultar en fibrilación ventricular, presentando un riesgo elevado de muerte súbita cardiaca.","Spanish_Disease_Name__c":"síndrome de torsade-de-pointes con intervalo de acoplamiento corto","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":"A rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death.","Curated_Disease_Description_Source__c":"MONDO:0013317","GARD_Synonym__c":"torsade de pointes short coupled variant; torsade de pointes with short coupling interval syndrome; torsade de pointes, short-coupled variant","Name":"Torsade-de-pointes syndrome with short coupling interval","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":"Clinical Cardiac Electrophysiology","Tag_Category__c":"Specialist","curated_tag_name":"Clinical cardiac electrophysiology"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/51084","Source__c":"C3150851; MONDO:0013317; ORPHA:51084","Xref__c":"ORPHA:51084"},{"URL__c":"https://www.omim.org/entry/613600","Source__c":"C3150851; MONDO:0013317; ORPHA:51084","Xref__c":"OMIM:613600"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718104007","Source__c":"C3150851; MONDO:0013317","Xref__c":"718104007"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3150851","Source__c":"C3150851","Xref__c":"C3150851"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=462201","Source__c":"C3150851","Xref__c":"MEDGEN:462201"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013317","Source__c":"GARD:0016651","Xref__c":"MONDO:0013317"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Cardiology","Clinical Cardiac Electrophysiology"]},"synonyms":["torsade de pointes short coupled variant"," torsade de pointes with short coupling interval syndrome"," torsade de pointes, short-coupled variant"]}