{"Name":"Congenital long QT syndrome","DiseaseID__c":"GARD:0016547","id":16547,"encodedName":"congenital-long-qt-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Congenital long QT syndrome","Xref_IDs__c":"442917000; C1141890; MEDGEN:685787; MONDO:0019171; OMIMPS:192500; ORPHA:768","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0019171","Disease_Description__c":"A rare group of genetic, cardiac rhythm diseases characterized by a prolongation of the QT interval at basal electrocardiography (ECG) and by a high risk of life-threatening arrhythmias.","GARD_Name__c":"Congenital long QT syndrome","GARD_Synonym__c":"familial long qt syndrome; hereditary long qt syndrome; inherited long qt syndrome; lqts; romano-ward long qt syndrome; romano-ward syndrome; rws; ventricular fibrillation with prolonged qt interval; ward-romano syndrome","Curated_Disease_Description_Source__c":"MONDO:0019171","Curated_Disease_Description__c":"Romano-Ward syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. The term \"long QT\" refers to a specific pattern of heart activity that is detected with an electrocardiogram (ECG or EKG), which is a test used to measure the electrical activity of the heart. In people with long QT syndrome, the part of the heartbeat known as the QT interval is abnormally long. Abnormalities in the time it takes to recharge the heart lead to abnormal heart rhythms.\r\n\r\nThe arrhythmia associated with Romano-Ward syndrome can lead to fainting (syncope) or cardiac arrest and sudden death. However, some people with Romano-Ward syndrome never experience any health problems associated with the condition.\r\n\r\nFifteen types of long QT syndrome have been defined based on their genetic cause. Some types of long QT syndrome involve other cardiac abnormalities or problems with additional body systems. Romano-Ward syndrome encompasses those types that involve only a long QT interval without other abnormalities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:768","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019171","ORPHANET_ID__c":"ORPHA:101016; ORPHA:768","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de qt largo congénito","Spanish_Description_Source__c":"ORPHA:768","Spanish_Description__c":"Es un grupo poco frecuente de enfermedades genéticas del ritmo cardíaco caracterizado por una prolongación del intervalo QT en el electrocardiograma (ECG) basal y por un riesgo elevado de arritmias potencialmente mortales.","Spanish_Disease_Name__c":"síndrome de qt largo congénito","Spanish_GARD_Synonym__c":"sqtl congénito","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":"Romano-Ward syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. The term \"long QT\" refers to a specific pattern of heart activity that is detected with an electrocardiogram (ECG or EKG), which is a test used to measure the electrical activity of the heart. In people with long QT syndrome, the part of the heartbeat known as the QT interval is abnormally long. Abnormalities in the time it takes to recharge the heart lead to abnormal heart rhythms.\r\n\r\nThe arrhythmia associated with Romano-Ward syndrome can lead to fainting (syncope) or cardiac arrest and sudden death. However, some people with Romano-Ward syndrome never experience any health problems associated with the condition.\r\n\r\nFifteen types of long QT syndrome have been defined based on their genetic cause. Some types of long QT syndrome involve other cardiac abnormalities or problems with additional body systems. Romano-Ward syndrome encompasses those types that involve only a long QT interval without other abnormalities.","Curated_Disease_Description_Source__c":"MONDO:0019171","GARD_Synonym__c":"familial long qt syndrome; hereditary long qt syndrome; inherited long qt syndrome; lqts; romano-ward long qt syndrome; romano-ward syndrome; rws; ventricular fibrillation with prolonged qt interval; ward-romano syndrome","Name":"Congenital long QT syndrome","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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:768"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:768"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:768"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1129","Source__c":"Gene Review","Xref__c":"NBK1129"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1405","Source__c":"Gene Review","Xref__c":"NBK1405"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=442917000","Source__c":"C1141890; MONDO:0019171","Xref__c":"442917000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=685787","Source__c":"C1141890","Xref__c":"MEDGEN:685787"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1141890","Source__c":"C1141890","Xref__c":"C1141890"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS192500","Source__c":"MONDO:0019171","Xref__c":"OMIMPS:192500"},{"URL__c":"https://www.orpha.net/en/disease/detail/768","Source__c":"C1141890; MONDO:0019171; ORPHA:768","Xref__c":"ORPHA:768"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019171","Source__c":"GARD:0016547","Xref__c":"MONDO:0019171"},{"URL__c":"https://medlineplus.gov/genetics/condition/romano-ward-syndrome"}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Cardiology","Clinical Cardiac Electrophysiology","Pediatrics"]},"synonyms":["familial long qt syndrome"," hereditary long qt syndrome"," inherited long qt syndrome"," lqts"," romano-ward long qt syndrome"," romano-ward syndrome"," rws"," ventricular fibrillation with prolonged qt interval"," ward-romano syndrome"]}