{"orpha":51083,"name":"Congenital short QT syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital SQTS"],"definition":"A rare, genetic cardiac rhythm disease characterized by a short QTc interval on the surface electrocardiogram (ECG) with a high risk of syncope or sudden death due to malignant ventricular arrhythmia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-51083/","orphanet_url":"https://www.orpha.net/en/disease/detail/51083","names":{"fr":{"name":"Syndrome du QT court congénital","synonyms":["SQTS congénital"],"definition":"Trouble génétique rare du rythme cardiaque caractérisé par un intervalle QT corrigé (QTc) court sur l'électrocardiogramme (ECG) de surface avec un risque élevé de syncope ou de mort subite due à une arythmie ventriculaire maligne."},"de":{"name":"Short-QT-Syndrom, kongenitales","synonyms":["SQTS"],"definition":"Das Short-QT-Syndrom (SQTS) repräsentiert eine genetisch bedingte Herzrhythmusstörung, die gekennzeichnet ist durch ein kurzes QT-Intervall (QT undQTc 300 ms) im EKG, verbunden mit einem hohen Risiko für Synkopen oder plötzlichen Herztod durch maligne Kammerarrhythmien."},"es":{"name":"Síndrome de QT corto congénito","synonyms":["SQTC congénito"],"definition":"Es una enfermedad del ritmo cardíaco poco frecuente y de origen genético caracterizada por un intervalo QTc corto en el electrocardiograma de superficie (ECG) con un riesgo elevado de síncope o muerte súbita como consecuencia de una arritmia ventricular maligna."},"it":{"name":"Sindrome familiare del QT corto","synonyms":["SQTS"],"definition":"La sindrome familiare del QT corto (SQTS) è un'anomalia genetica rara del ritmo cardiaco, caratterizzata da un intervallo QT corto evidenziato dall'ECG; si associa a un rischio elevato di sincope o morte improvvisa da aritmia ventricolare maligna."},"nl":{"name":"Congenitaal korte-QT-syndroom","synonyms":["Congenitaal SQTS"],"definition":"Een zeldzame, genetische hartritmestoornis, gekarakteriseerd door een kort QTc-interval op het oppervlakte-elektrocardiogram (ECG) met een hoog risico op syncope of plotselinge dood door maligne ventriculaire aritmie."},"pt":{"name":"Síndrome QT curto congénito","synonyms":["SQTS congénito"]},"pl":{"name":"Rodzinny zespół skróconego odstępu QT","synonyms":["SQTS"]},"cs":{"name":"Familiární syndrom krátkého QT","synonyms":["SQTS"]},"uk":{"name":"Сімейний синдром укороченого інтервалу QT","synonyms":["SQTS"],"definition":"A rare, genetic cardiac rhythm disease characterized by a short QTc interval on the surface electrocardiogram (ECG) with a high risk of syncope or sudden death due to malignant ventricular arrhythmia."},"zh":{"name":"家族性短QT综合征","synonyms":["SQTS"]},"tr":{"name":"ailesel kısa QT sendromu","synonyms":["SQTS"]}},"xrefs":[{"source":"OMIM","code":"609620","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"609621","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609622","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620231","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I49.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC65.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"553392015"},{"source":"UMLS","code":"C2348199","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":101934,"name":"Genetic cardiac rhythm disease","classifications":[146,156]}],"children":[],"genes":[{"symbol":"CACNA2D1","name":"calcium voltage-gated channel auxiliary subunit alpha2delta 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"21383000[PMID]","hgnc":"1399","ensembl":"ENSG00000153956","omim":"114204","loci":["7q21.11"]},{"symbol":"KCNH2","name":"potassium voltage-gated channel subfamily H member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"15828882[PMID]","hgnc":"6251","ensembl":"ENSG00000055118","omim":"152427","loci":["7q36.1"]},{"symbol":"KCNJ2","name":"potassium inwardly rectifying channel subfamily J member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"15761194[PMID]","hgnc":"6263","ensembl":"ENSG00000123700","omim":"600681","loci":["17q24.3"]},{"symbol":"KCNQ1","name":"potassium voltage-gated channel subfamily Q member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"15159330[PMID]_26346102[PMID]","hgnc":"6294","ensembl":"ENSG00000053918","omim":"607542","loci":["11p15.5-p15.4"]},{"symbol":"SLC4A3","name":"solute carrier family 4 member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"29167417[PMID]","hgnc":"11029","ensembl":"ENSG00000114923","omim":"106195","loci":["2q35"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"23916535[PMID]_[EXPERT]"},{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":80.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-05-31","source":"15159330[PMID]_14676148[PMID]_15890322[PMID]_24818999[PMID]_14676148[PMID]_12925462[PMID]_11173780[PMID]","terms":[{"hpo":"HP:0012232","label":"Shortened QT interval","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001662","label":"Bradycardia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005110","label":"Atrial fibrillation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001678","label":"Atrioventricular block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001645","label":"Sudden cardiac death","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004308","label":"Ventricular arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001663","label":"Ventricular fibrillation","frequency":"Occasional (29-5%)","criteria":null}]}}