{"orpha":768,"name":"Congenital long QT syndrome","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Congenital LQTS"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-768/","orphanet_url":"https://www.orpha.net/en/disease/detail/768","names":{"fr":{"name":"Syndrome du QT long congénital","synonyms":["LQTS congénital"],"definition":"Groupe rare de maladies génétiques du rythme cardiaque caractérisées par un allongement de l'intervalle QT à l'électrocardiogramme (ECG) basal et par un risque élevé d'arythmies potentiellement mortelles."},"de":{"name":"Long-QT-Syndrom, kongenitales","synonyms":["LQTS"],"definition":"Eine seltene Gruppe genetisch bedingter Herzrhythmusstörungen, die durch eine Verlängerung des QT-Intervalls im Basalelektrokardiogramm (EKG) und durch ein hohes Risiko lebensbedrohlicher Arrhythmien gekennzeichnet sind."},"es":{"name":"Síndrome de QT largo congénito","synonyms":["SQTL congénito"],"definition":"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."},"it":{"name":"Sindrome del QT lungo familiare","definition":"La sindrome del QT lungo familiare (LQTS) comprende un gruppo di anomalie genetiche rare del ritmo cardiaco, caratterizzate dal prolungamento dell'intervallo QT all'elettrocardiogramma (ECG) basale e da un'elevata probabilità di aritmie potenzialmente letali."},"nl":{"name":"Congenitaal lange-QT-syndroom","synonyms":["Congenitaal LQTS"],"definition":"Een zeldzame groep van genetische hartritmestoornissen, gekenmerkt door een verlengd QT-interval bij basale elektrocardiografie (ECG) en een hoog risico op levensbedreigende aritmie."},"pt":{"name":"Síndrome QT longo familiar congénito","synonyms":["LQTS congénito"],"definition":"A síndrome de QT Longo congénito (LQTS) é uma doença hereditária cardíaca caracterizada pelo prolongamento do intervalo QT no ECG basal e por um alto risco de arritmias potencialmente fatais."},"pl":{"name":"Rodzinny zespół wydłużonego odcinka QT","synonyms":["Wrodzony zespół wydłużonego odcinka QT"]},"cs":{"name":"Syndrom dlouhého QT intervalu","synonyms":["Syndrom vrozeného dlouhého QT intervalu"]},"uk":{"name":"Сімейний синдром подовженого інтервалу QT","synonyms":["Вроджений синдром подовженого інтервалу QT","LQTS"],"definition":"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."},"zh":{"name":"家族性长QT综合征","synonyms":["先天性长QT间期综合征"]},"tr":{"name":"Ailesel uzun QT sendromu","synonyms":["Doğumsal uzun QT sendromu"]}},"xrefs":[{"source":"OMIM","code":"192500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"220400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600919","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601005","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"603830","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611818","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611819","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611820","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612347","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612955","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613485","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613688","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613693","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613695","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616247","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616249","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618447","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-11","code":"BC65.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1208831985"},{"source":"MONDO","code":"0019171","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19171","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1141890","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10057926","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":[{"orpha":101016,"name":"Isolated congenital long QT syndrome","type":"Disease"},{"orpha":90647,"name":"Jervell and Lange-Nielsen syndrome","type":"Disease"},{"orpha":65283,"name":"Timothy syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}