{"orpha":101016,"name":"Isolated congenital long QT syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Romano-Ward long QT syndrome","Isolated congenital LQTS"],"definition":"A form of familial long QT syndrome (LQTS) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101016/","orphanet_url":"https://www.orpha.net/en/disease/detail/101016","names":{"fr":{"name":"Syndrome du QT long congénital isolé","synonyms":["Syndrome du QT long Romano-Ward","LQTS congénital isolé"],"definition":"Forme de syndrome familial du QT long (SQTL) caractérisée par des épisodes syncopaux et des anomalies électrocardiographiques [allongement de l'intervalle QT, anomalies de l'onde T et tachycardie ventriculaire à torsade de pointes (TdP)]."},"de":{"name":"Isoliertes kongenitales Long-QT-Syndrom","synonyms":["LQTS, isoliertes kongenitales","Romano-Ward-Syndrom","RWS","Romano-Ward Long-QT-Syndrom"],"definition":"Das Romano-Ward-Syndrom (RWS) ist eine Unterform des familiären Long-QT-Syndroms, die durch synkopische Episoden und elektrokardiografische Anomalien (QT-Verlängerung, T-Wellen-Anomalien und ventrikuläre Tachykardien mit Torsade de pointes (TdP)) gekennzeichnet ist."},"es":{"name":"Síndrome de QT largo congénito aislado","synonyms":["Síndrome de QT largo de Romano-Ward","SQTL congénito aislado"],"definition":"Es una forma del síndrome de QT largo familiar (SQTL) caracterizada por episodios sincopales y anomalías electrocardiográficas (prolongación del intervalo QT, anomalías de la onda T y taquicardia ventricular tipo torsión de puntas (TdP))."},"it":{"name":"Sindrome del QT lungo congenita isolata","synonyms":["LQTS isolata congenita","Sindrome del QT lungo di Romano-Ward"],"definition":"La sindrome di Romano-Ward (RWS) è una forma della sindrome del QT lungo (LQTS) familiare, caratterizzata da episodi di sincope ed anomalie elettrocardiografiche (allungamento del tratto QT, anomalie dell'onda T e tachicardia ventricolare con torsione della punta, TdP)."},"nl":{"name":"Geïsoleerd congenitaal lang-QT-syndroom","synonyms":["Geïsoleerd congenitaal LQTS","Lang-QT-syndroom van Romano-Ward"],"definition":"Een vorm van familiaal lang-QT-syndroom (LQTS), gekarakteriseerd door episodes van syncope en elektrocardiografische afwijkingen (verlengd QT-interval, afwijkingen van T-golf en 'torsade de pointes' (TdP) ventriculaire tachycardie)."},"pt":{"name":"Síndrome do QT longo de Romano-Ward","definition":"O síndrome de Romano-Ward (RWS) é uma variante autossómica dominante do síndrome QT longo (LQTS, ver este termo), caracterizada por episódios de síncope e anomalias eletrocardiográficas (prolongamento do intervalo QT, e anomalias onda T e taquicardia ventricular torsade de pointes (TdP))."},"pl":{"name":"Zespół Romano i Warda","synonyms":["Zespół wydłużonego QT Romano i Warda"]},"cs":{"name":"Romanův-Wardův syndrom","synonyms":["Romanův-Wardův syndrom dlouhého QT","Romano-Wardův syndrom","Romano-Wardův syndrom dlouhého QT"]},"uk":{"name":"Синдром Романо-Уорда","synonyms":["Синдром подовженого інтервалу QT Романо-Уорда"],"definition":"A form of familial long QT syndrome (LQTS) characterized by syncopal episodes and electrocardiographic abnormalities (QT prolongation, T-wave abnormalities and torsade de pointes (TdP) ventricular tachycardia)."},"zh":{"name":"Romano-Ward综合征","synonyms":["Romano-Ward长QT综合征"],"definition":"罗马诺-沃德综合征(Romano-Ward syndrome，RWS)是长QT综合征(LQTS，见该词条)的常染色体显性遗传型，以突触发作和心电图异常(QT延长、T波异常和尖端扭转室性心动过速(TDP))为特征。"},"tr":{"name":"Romano-Ward sendromu","synonyms":["Romano-Ward uzun QT sendromu"]}},"xrefs":[{"source":"OMIM","code":"192500","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"600919","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":"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":"618782","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I49.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC65.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MeSH","code":"D029597","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4551647","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3284","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10039211","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":768,"name":"Congenital long QT syndrome","classifications":[146,156]}],"children":[{"orpha":727156,"name":"CACNA1C-related isolated congenital Long QT syndrome","type":"Etiological subtype"},{"orpha":727192,"name":"Calmodulin-related isolated congenital long QT syndrome","type":"Etiological subtype"},{"orpha":727126,"name":"Isolated congenital long QT syndrome without known causative genetic defect","type":"Etiological subtype"},{"orpha":727185,"name":"KCNE1-related isolated congenital long QT syndrome","type":"Etiological subtype"},{"orpha":727178,"name":"KCNE2-related isolated congenital long QT syndrome","type":"Etiological subtype"},{"orpha":727149,"name":"KCNH2-related isolated congenital long QT syndrome","type":"Etiological subtype"},{"orpha":727141,"name":"KCNQ1-related isolated congenital long QT syndrome","type":"Etiological subtype"},{"orpha":727203,"name":"SCN5A-related isolated congenital long QT syndrome","type":"Etiological subtype"},{"orpha":727163,"name":"TRDN-related isolated congenital long QT syndrome","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"SCN5A","name":"sodium voltage-gated channel alpha subunit 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20301308[PMID]_24093767[PMID]","hgnc":"10593","ensembl":"ENSG00000183873","omim":"600163","loci":["3p22.2"],"via":{"orpha":727203,"name":"SCN5A-related isolated congenital long QT syndrome"}},{"symbol":"KCNE1","name":"potassium voltage-gated channel subfamily E regulatory subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301308[PMID]_24093767[PMID]","hgnc":"6240","ensembl":"ENSG00000180509","omim":"176261","loci":["21q22.12"],"via":{"orpha":727185,"name":"KCNE1-related isolated congenital long QT syndrome"}},{"symbol":"KCNE2","name":"potassium voltage-gated channel subfamily E regulatory subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301308[PMID]_24093767[PMID]","hgnc":"6242","ensembl":"ENSG00000159197","omim":"603796","loci":["21q22.11"],"via":{"orpha":727178,"name":"KCNE2-related isolated congenital long QT syndrome"}},{"symbol":"KCNH2","name":"potassium voltage-gated channel subfamily H member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301308[PMID]_24093767[PMID]","hgnc":"6251","ensembl":"ENSG00000055118","omim":"152427","loci":["7q36.1"],"via":{"orpha":727149,"name":"KCNH2-related isolated congenital long QT syndrome"}},{"symbol":"KCNQ1","name":"potassium voltage-gated channel subfamily Q member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301308[PMID]_24093767[PMID]","hgnc":"6294","ensembl":"ENSG00000053918","omim":"607542","loci":["11p15.5-p15.4"],"via":{"orpha":727141,"name":"KCNQ1-related isolated congenital long QT syndrome"}},{"symbol":"CACNA1C","name":"calcium voltage-gated channel subunit alpha1 C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23677916[PMID]","hgnc":"1390","ensembl":"ENSG00000151067","omim":"114205","loci":["12p13.33"],"via":{"orpha":727156,"name":"CACNA1C-related isolated congenital Long QT syndrome"}},{"symbol":"CALM1","name":"calmodulin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23388215[PMID]_24076290[PMID]","hgnc":"1442","ensembl":"ENSG00000198668","omim":"114180","loci":["14q32.11"],"via":{"orpha":727192,"name":"Calmodulin-related isolated congenital long QT syndrome"}},{"symbol":"CALM2","name":"calmodulin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23388215[PMID]_24917665[PMID]","hgnc":"1445","ensembl":"ENSG00000143933","omim":"114182","loci":["2p21"],"via":{"orpha":727192,"name":"Calmodulin-related isolated congenital long QT syndrome"}},{"symbol":"CALM3","name":"calmodulin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31170290[PMID]","hgnc":"1449","ensembl":"ENSG00000160014","omim":"114183","loci":["19q13.32"],"via":{"orpha":727192,"name":"Calmodulin-related isolated congenital long QT syndrome"}},{"symbol":"TRDN","name":"triadin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25922419[PMID]_27807201[PMID]_27041150[PMID]","hgnc":"12261","ensembl":"ENSG00000186439","omim":"603283","loci":["6q22.31"],"via":{"orpha":727163,"name":"TRDN-related isolated congenital long QT syndrome"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":40.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-17","source":"18606002[PMID]_17192539[PMID]_8058139[PMID]_23511927[PMID]_14136838[PMID]","terms":[{"hpo":"HP:0005184","label":"Prolonged QTc interval","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0005135","label":"Abnormal T-wave","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001688","label":"Sinus bradycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0500018","label":"Abnormal cardiac exercise stress test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001645","label":"Sudden cardiac death","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001664","label":"Torsade de pointes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004308","label":"Ventricular arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001197","label":"Abnormality of prenatal development or birth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Excluded (0%)","criteria":null}]}}