{"orpha":3286,"name":"Catecholaminergic polymorphic ventricular tachycardia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Bidirectional ventricular tachycardia induced by catecholamine","CPVT","Malignant paroxysmal ventricular tachycardia","Polymorphic ventricular tachycardia induced by catecholamines"],"definition":"A rare severe genetic arrhythmogenic disorder of the structurally normal heart characterized by catecholamine-induced ventricular tachycardia (VT) manifesting as syncope and sudden death in young individuals.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3286/","orphanet_url":"https://www.orpha.net/en/disease/detail/3286","names":{"fr":{"name":"Tachycardie ventriculaire polymorphe catécholaminergique","synonyms":["TVPC","Tachycardie ventriculaire bidirectionnelle induite par les catécholamines","Tachycardie ventriculaire paroxystique maligne","Tachycardie ventriculaire polymorphe induite par les catécholamines"],"definition":"Trouble du rythme cardiaque rare et sévère, d'origine génétique, survenant en l'absence d'anomalies cardiaques visibles, caractérisé par une tachycardie ventriculaire (TV) induite par les catécholamines, se manifestant par une syncope et une mort subite chez des individus jeunes."},"de":{"name":"Tachykardie, katecholaminerge polymorphe ventrikuläre","synonyms":["Bidirektionale katecholaminerge Tachykardie","CPVT","Polymorphe ventrikuläre Tachykardie induziert durch Katecholamine","Tachykardie, maligne paroxysmale ventrikuläre"],"definition":"Eine schwere genetisch bedingte Arrhythmie des strukturell normalen Herzens, die durch Katecholamin-induzierte ventrikuläre Tachykardie (VT) gekennzeichnet ist und sich bei jungen Menschen als Synkope oder plötzlicher Herztod in Erscheinung tritt."},"es":{"name":"Taquicardia ventricular polimórfica catecolaminérgica","synonyms":["CPVT","Taquicardia ventricular bidireccional inducida por catecolaminas","Taquicardia ventricular paroxística maligna","Taquicardia ventricular polimórfica inducida por catecolaminas"],"definition":"Es un trastorno arritmogénico grave del corazón estructuralmente normal, de origen genético y poco frecuente, caracterizado por taquicardia ventricular (TV) inducida por catecolaminas que se manifiesta como síncope y muerte súbita en personas jóvenes."},"it":{"name":"Tachicardia ventricolare polimorfa catecolaminergica","synonyms":["CPVT","Tachicardia ventricolare bidirezionale indotta dalle catecolamine","Tachicardia ventricolare parossistica maligna","Tachicardia ventricolare polimorfa indotta dalle catecolamine"],"definition":"La tachicardia ventricolare polimorfa catecolaminergica (CPVT) è una malattia aritmogena rara e grave, di origine genetica, che insorge in un cuore strutturalmente normale, ed è caratterizzata da tachicardia ventricolare (TV) indotta dalle catecolamine, che si manifesta con sincope e morte improvvisa nei pazienti giovani."},"nl":{"name":"Catecholaminerge polymorfe ventriculaire tachycardie","synonyms":["Bidirectionele ventrikeltachycardie geïnduceerd door catecholamine","CPVT","Maligne paroxysmale ventriculaire tachycardie","Polymorfe ventrikeltachycardie geïnduceerd door catecholamines"],"definition":"Een zeldzame, genetische ernstige aritmogene aandoening van structureel normaal hart, gekarakteriseerd door catecholamine-geïnduceerde ventriculaire tachycardie (VT) die zich manifesteert als syncope en plotselinge dood bij jonge individuen."},"pt":{"name":"Taquicardia ventricular polimórfica catecolaminérgica","synonyms":["Taquicardia ventricular paroxistica maligna","Taquicardia ventricular polimórfica induzida por catecolaminas"],"definition":"A taquicardia ventricular polimórfica catecolaminérgica (CPVT) é uma doença arritmogénica genética grave caracterizada por taquicardia ventricular induzida adrenergicamente (VT) manifestando-se como síncope e morte súbita."},"pl":{"name":"Polimorficzny katecholaminergiczny częstoskurcz komorowy","synonyms":["Częstoskurcz dwukierunkowy wywołany katecholaminami","Podwójny częstoskurcz wywołany katecholaminami","Złośliwy napadowy częstoskurcz komorowy"]},"cs":{"name":"Katecholaminergní polymorfní komorová tachykardie","synonyms":["CPVT","Dvojitá tachykardie indukovaná katecholaminy","Maligní paroxysmální ventrikulární tachykardie","Bidirekční komorová tachykardie indukovaná katecholaminy","Multifokální ventrikulární předčasný tlukot srdce"]},"uk":{"name":"Катехоламінергічна поліморфна шлуночкова тахікардія","synonyms":["Двонаправлена шлуночкова тахікардія, викликана катехоламіном","CPVT","Злоякісна пароксизмальна шлуночкова тахікардія","Поліморфна шлуночкова тахікардія, викликана катехоламінами"],"definition":"A rare, severe genetic arrhythmogenic disorder of the structurally normal heart characterized by catecholamine-induced ventricular tachycardia (VT) manifesting as syncope and sudden death in young individuals."},"zh":{"name":"儿茶酚胺敏感性多形性室性心动过速","synonyms":["儿茶酚胺诱发双向性心动过速"]},"tr":{"name":"Katekolaminerjik polimorfik ventriküler taşikardi","synonyms":["CPVT","Multifokal ventriküler erken atımlar","Katekolaminlerin neden olduğu çift taşikardi","Habis paroksismal ventriküler taşikardi","Katekolamin ile indüklenen çift yönlü taşikardi"]}},"xrefs":[{"source":"OMIM","code":"604772","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"611938","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614021","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614916","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615441","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I47.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC65.5","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"976309888"},{"source":"MONDO","code":"0017990","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536334","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5574922","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4421","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":730631,"name":"CASQ2-related catecholaminergic polymorphic ventricular tachycardia","type":"Etiological subtype"},{"orpha":730657,"name":"Calmodulin-related catecholaminergic polymorphic ventricular tachycardia","type":"Etiological subtype"},{"orpha":730728,"name":"Catecholaminergic polymorphic ventricular tachycardia without known causative genetic defect","type":"Etiological subtype"},{"orpha":730618,"name":"RYR2-related catecholaminergic polymorphic ventricular tachycardia","type":"Etiological subtype"},{"orpha":730644,"name":"TECRL-related catecholaminergic polymorphic ventricular tachycardia","type":"Etiological subtype"},{"orpha":730682,"name":"TRDN-related catecholaminergic polymorphic ventricular tachycardia","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"CALM1","name":"calmodulin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23040497[PMID]_20301466[PMID]","hgnc":"1442","ensembl":"ENSG00000198668","omim":"114180","loci":["14q32.11"],"via":{"orpha":730657,"name":"Calmodulin-related catecholaminergic polymorphic ventricular tachycardia"}},{"symbol":"CALM2","name":"calmodulin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24917665[PMID]_37528649[PMID]","hgnc":"1445","ensembl":"ENSG00000143933","omim":"114182","loci":["2p21"],"via":{"orpha":730657,"name":"Calmodulin-related catecholaminergic polymorphic ventricular tachycardia"}},{"symbol":"CALM3","name":"calmodulin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"37528649[PMID]","hgnc":"1449","ensembl":"ENSG00000160014","omim":"114183","loci":["19q13.32"],"via":{"orpha":730657,"name":"Calmodulin-related catecholaminergic polymorphic ventricular tachycardia"}},{"symbol":"CASQ2","name":"calsequestrin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301466[PMID]","hgnc":"1513","ensembl":"ENSG00000118729","omim":"114251","loci":["1p13.1"],"via":{"orpha":730631,"name":"CASQ2-related catecholaminergic polymorphic ventricular tachycardia"}},{"symbol":"RYR2","name":"ryanodine receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301466[PMID]","hgnc":"10484","ensembl":"ENSG00000198626","omim":"180902","loci":["1q43"],"via":{"orpha":730618,"name":"RYR2-related catecholaminergic polymorphic ventricular tachycardia"}},{"symbol":"TECRL","name":"trans-2,3-enoyl-CoA reductase like","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27861123[PMID]","hgnc":"27365","ensembl":"ENSG00000205678","omim":"617242","loci":["4q13.1"],"via":{"orpha":730644,"name":"TECRL-related catecholaminergic polymorphic ventricular tachycardia"}},{"symbol":"TRDN","name":"triadin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22422768[PMID]_20301466[PMID]","hgnc":"12261","ensembl":"ENSG00000186439","omim":"603283","loci":["6q22.31"],"via":{"orpha":730682,"name":"TRDN-related catecholaminergic polymorphic ventricular tachycardia"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Europe","status":"Validated","source":"23916535[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-03-05","source":"20301466[PMID]","terms":[{"hpo":"HP:0004756","label":"Ventricular tachycardia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005110","label":"Atrial fibrillation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001695","label":"Cardiac arrest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031677","label":"Polymorphic ventricular tachycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004755","label":"Supraventricular tachycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Frequent (79-30%)","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:0001663","label":"Ventricular fibrillation","frequency":"Occasional (29-5%)","criteria":null}]}}