{"orpha":51084,"name":"Torsade-de-pointes syndrome with short coupling interval","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-51084/","orphanet_url":"https://www.orpha.net/en/disease/detail/51084","names":{"fr":{"name":"Syndrome des torsades de pointes à couplage court","definition":"Variant rare du syndrome des torsades de pointes, une tachycardie ventriculaire polymorphe caractérisée par un couplage court de la première torsade de pointe à l'électrocardiogramme, en absence de maladie cardiaque structurale. Il se manifeste au début de l'âge adulte par une syncope qui conduit souvent à une fibrillation ventriculaire et induit un risque élevé de mort cardiaque subite."},"de":{"name":"Torsade-de-Pointes-Tachykardie mit kurzem Kopplungsintervall","definition":"Eine seltene Variante der Torsade-de-Pointes-Tachykardie, einer polymorphen ventrikulären Tachykardie, die durch ein kurzes Kopplungsintervall des ersten TdP-Schlags im Elektrokardiogramm ohne strukturelle Herzerkrankung gekennzeichnet ist. Sie manifestiert sich im frühen Erwachsenenalter mit Synkope, führt häufig zu Kammerflimmern und weist ein hohes Risiko für einen plötzlichen Herztod auf."},"es":{"name":"Síndrome de torsade-de-pointes con intervalo de acoplamiento corto","definition":"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."},"it":{"name":"Sindrome da torsione della punta ad intervallo di accoppiamento breve","definition":"La sindrome da torsione della punta (TdP) con intervallo di accoppiamento breve è una variante molto rara della torsione della punta, una tachicardia ventricolare polimorfa, caratterizzata da un intervallo di accoppiamento breve del primo battito della TdP, evidente all'elettrocardiogramma, in assenza di una cardiopatia strutturale. Insorge nella prima età adulta con sincope, spesso provoca la fibrillazione atriale e si associa ad un rischio elevato di morte cardiaca improvvisa."},"nl":{"name":"Torsade-de-pointes-syndroom met kort koppelingsinterval","definition":"Een zeldzame variant van Torsade de pointes, een polymorfe ventriculaire tachycardie, gekenmerkt door een kort koppelingsinterval van de eerste TdP-slag op elektrocardiogram in afwezigheid van enige structurele hartziekte. Het manifesteert zich in de vroege volwassenheid met syncope, resulteert vaak in ventrikelfibrilleren, en vertoont een hoog risico op plotse hartdood."},"pt":{"name":"Síndrome de torsade-de-pointes com intervalo de acoplamento curto"},"pl":{"name":"Zespół Torsade-de-pointes o krótkim czasie sprzężenia","definition":"Rzadki wariant zespołu torsade de pointes, polimorficzny częstoskurcz komorowy, który charakteryzuje się krótkim czasem sprzężenia pierwszego pobudzenia TdP w elektrokardiogramie, przy braku jakiejkolwiek strukturalnej choroby serca. Objawia się we wczesnej dorosłości omdleniem, często kończy się migotaniem komór i wiąże z wysokim ryzykiem nagłego zgonu sercowego."},"cs":{"name":"Syndrom Torsade-de-pointes (TdP) s krátkým spojovacím intervalem"},"uk":{"name":"Синдром torsade-de-pointes з коротким інтервалом зчеплення","definition":"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."},"zh":{"name":"短联律间期尖端扭转型室性心动过速综合征"},"tr":{"name":"Kısa bağlantı aralıklı Torsade-de-pointes sendromu"}},"xrefs":[{"source":"OMIM","code":"613600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I47.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC71.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"179718000"},{"source":"MONDO","code":"0013317","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3150851","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":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"8281648[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"8281648[PMID]_ORPHANET"}],"phenotypes":null}