{"orpha":228140,"name":"Idiopathic ventricular fibrillation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228140/","orphanet_url":"https://www.orpha.net/en/disease/detail/228140","names":{"fr":{"name":"Fibrillation ventriculaire idiopathique","definition":"Trouble rare du rythme cardiaque d'origine génétique, caractérisé par une fibrillation ventriculaire en l'absence de toute maladie cardiaque structurelle ou fonctionnelle, ou d'anomalies connues de la repolarisation. La présence d'ondes J est associée à un risque plus élevé d'épisodes nocturnes de fibrillation ventriculaire, ainsi qu'à un risque accru de récidive."},"de":{"name":"Kammerflimmern, idiopathisches","definition":"Eine genetisch bedingte Herzrhythmusstörung, die durch Kammerflimmern gekennzeichnet ist, ohne dass eine strukturelle oder funktionelle Herzerkrankung oder bekannte Repolarisationsanomalien vorliegen. Das Vorhandensein von J-Wellen ist mit einem höheren Risiko für nächtliches Kammerflimmern und einem höheren Risiko für ein Wiederauftreten verbunden."},"es":{"name":"Fibrilación ventricular idiopática","definition":"Es una enfermedad del ritmo cardíaco, de origen genético y poco frecuente, caracterizada por fibrilación ventricular en ausencia de cualquier otra cardiopatía estructural o funcional, o de alteraciones conocidas de la repolarización. La presencia de ondas J en el electrocardiograma se asocia a un mayor riesgo de episodios de fibrilación ventricular nocturna y a un mayor riesgo de recurrencia."},"it":{"name":"Fibrillazione ventricolare idiopatica","synonyms":["Fibrillazione ventricolare parossistica familiare, tipo non-Brugada"],"definition":"Si tratta di un'anomalia genetica rara del ritmo cardiaco, caratterizzata da fibrillazione ventricolare, in assenza di cardiopatie strutturali o funzionali, o di anomalie della ripolarizzazione. La presenza di onde J si associa a un aumento del rischio di fibrillazione ventricolare notturna e di ricorrenza."},"nl":{"name":"Idiopathisch ventrikelfibrilleren","definition":"Een zeldzame, genetische hartritmestoornis, gekarakteriseerd door ventrikelfibrilleren in afwezigheid van enige structurele of functionele hartziekte of gekende repolarisatiestoornissen. De aanwezigheid van J-golven is geassocieerd met een hoger risico op nachtelijke ventrikelfibrillatie en een hoger herhalingsrisico."},"pt":{"name":"Fibrilação ventricular idiopática"},"pl":{"name":"Idiopatyczne migotanie komór, nie typu Brugada"},"cs":{"name":"Idiopatická ventrikulární fibrilace, jiný než Brugadův typ","synonyms":["Familiární paroxyzmální ventrikulární fibrilace, jiný než Brugadův typ"]},"uk":{"name":"Ідіопатичне фібриляція шлуночків, не тип Бругада","synonyms":["Сімейна пароксизмальна фібриляція шлуночків, не типу Бругада"],"definition":"A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence."},"zh":{"name":"非 Brugada型特发性心室颤动","synonyms":["非 Brugada型家族性阵发性心室纤维性颤动"],"definition":"一种罕见的遗传性心脏节律疾病，其特征是在没有任何结构性或功能性心脏病或已知复极异常的情况下发生心室颤动。J波的存在与夜间心室颤动事件发生和复发的高风险相关。"},"tr":{"name":"İdiyopatik ventriküler fibrilasyon, Brugada tipi olmayan","synonyms":["Ailesel paroksismal ventriküler fibrilasyon, Brugada olmayan tipi"]}},"xrefs":[{"source":"OMIM","code":"603829","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"612956","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I49.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC65.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"508776291"},{"source":"UMLS","code":"C4510132","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4227","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":"DPP6","name":"dipeptidyl peptidase like 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19285295[PMID]_21512816[PMID]","hgnc":"3010","ensembl":"ENSG00000130226","omim":"126141","loci":["7q36.2"]},{"symbol":"SCN5A","name":"sodium voltage-gated channel alpha subunit 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10940383[PMID]","hgnc":"10593","ensembl":"ENSG00000183873","omim":"600163","loci":["3p22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}