{"orpha":436242,"name":"Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic cardiac disease characterized by variably expressed atrial tachyarrhythmia (such as atrial flutter, paroxysmal or chronic atrial fibrillation, ectopic atrial tachycardia, or multifocal atrial tachycardia), infra-Hisian conduction system disease, and vulnerability to dilated cardiomyopathy. Age of onset ranges between childhood and adulthood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-436242/","orphanet_url":"https://www.orpha.net/en/disease/detail/436242","names":{"fr":{"name":"Trouble héréditaire de conduction cardiaque infra-Hisienne avec tachyarythmie atriale","definition":"Maladie cardiaque rare d'origine génétique caractérisée par une tachyarythmie auriculaire et une expression variable (telle que flutter auriculaire, fibrillation auriculaire paroxystique ou chronique, tachycardie auriculaire ectopique ou tachycardie auriculaire multifocale), une maladie du système de conduction infra-Hisien et une vulnérabilité à la cardiomyopathie dilatée. L'âge d'apparition varie entre l'enfance et l'âge adulte."},"de":{"name":"Familiäre atriale Tachyarrhythmie mit infrahissärer Leitungsstörung","definition":"Eine seltene genetisch bedingte Herzerkrankung, die durch unterschiedlich ausgeprägte Vorhoftachyarrhythmien (z. B. Vorhofflattern, paroxysmales oder chronisches Vorhofflimmern, ektopische Vorhoftachykardie oder multifokale Vorhoftachykardie), eine Störung des infra-hisschen Reizleitungssystems und eine Anfälligkeit für dilatative Kardiomyopathie gekennzeichnet ist. Das Alter des Auftretens reicht von der Kindheit bis zum Erwachsenenalter."},"es":{"name":"Enfermedad de conducción cardíaca infrahisiana-taquiarritmia auricular hereditaria","definition":"Es una enfermedad cardíaca genética poco frecuente, caracterizada por taquiarritmias auriculares variables (tales como flutter auricular, fibrilación auricular paroxística o crónica, o taquicardia auricular ectópica o multifocal), enfermedad de conducción infrahisiana y susceptibilidad a miocardiopatía dilatada. La edad de inicio varía desde la infancia hasta la edad adulta."},"it":{"name":"Tachiaritmia atriale e difetto della conduzione cardiaca intra-hissiano familiare","definition":"Si tratta di una cardiopatia genetica rara, caratterizzata da tachiaritmia atriale variabile (flutter atriale, fibrillazione atriale parossistica o cronica, tachicardia atriale ectopica o tachicardia atriale multifocale), difetto del sistema di conduzione infra-hisiano e predisposizione alla cardiomiopatia dilatativa. La malattia esordisce tra l'infanzia e l'età adulta."},"nl":{"name":"Hereditaire atriale tachyaritmie - infra-Hisiaanse hartgeleidingsziekte","synonyms":["Erfelijke atriale tachyaritmie met hartgeleidingsdefect in of onder bundel van His"],"definition":"Een zeldzame, genetische aandoening van hart, gekarakteriseerd door variabele expressie van atriale tachyaritmie (zoals atriumflutter, paroxysmale of chronische atriumfibrillatie, ectopische atriale tachycardie, of multifocale atriale tachycardie), hartgeleidingsdefect in of onder bundel van His, en vatbaarheid voor gedilateerde cardiomyopathie. De aanvangsleeftijd varieert van de kindertijd tot de volwassenheid."},"pt":{"name":"Taquiarritmia auricular familiar-doença de condução cardíaca infra-Hisiana"},"pl":{"name":"Rodzinny częstoskurcz przedsionkowy-zaburzenia przewodzenia poniżej pęczka Hisa"},"cs":{"name":"Familiární atriální tachyarytmie a infrahisální porucha vedení","synonyms":["Familiární síňová tachyarytmie a infrahisální porucha vedení"]},"uk":{"name":"Сімейна передсердна тахіаритмія - інфра-гізіанська хвороба серцевої провідності","definition":"A rare genetic cardiac disease characterized by variably expressed atrial tachyarrhythmia (such as atrial flutter, paroxysmal or chronic atrial fibrillation, ectopic atrial tachycardia, or multifocal atrial tachycardia), infra-Hisian conduction system disease, and vulnerability to dilated cardiomyopathy. Age of onset ranges between childhood and adulthood."},"zh":{"name":"家族性房性心律失常-下希氏束心脏传导性疾病"},"tr":{"name":"Ailesel atriyal taşiaritmi-infra-Hisian kardiyak iletim hastalığı"}},"xrefs":[{"source":"OMIM","code":"616117","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I45.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC63.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C5681182","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":"TNNI3K","name":"TNNI3 interacting kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24925317[PMID]","hgnc":"19661","ensembl":"ENSG00000116783","omim":"613932","loci":["1p31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"24925317[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24925317[PMID]"}],"phenotypes":null}