{"orpha":334,"name":"Hereditary atrial fibrillation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Familial atrial fibrillation is a rare, genetically heterogenous cardiac disease characterized by erratic activation of the atria with an irregular ventricular response, in various members of a single family. It may be asymptomatic or associated with palpitations, dyspnea and light-headedness. Concomitant rhythm disorders and cardiomyopathies are frequently reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-334/","orphanet_url":"https://www.orpha.net/en/disease/detail/334","names":{"fr":{"name":"Fibrillation auriculaire héréditaire","definition":"Une maladie cardiaque rare, hétérogène sur le plan génétique, et caractérisée par l'activation erratique des oreillettes et une réponse ventriculaire irrégulière, affectant plusieurs membres d'une même famille. Elle peut être asymptomatique ou associée à des palpitations, une dyspnée et des étourdissements. Des anomalies concomitantes du rythme cardiaque et des cardiomyopathies sont fréquemment rapportées."},"de":{"name":"Vorhofflimmern, familiäres","definition":"Familiäres Vorhofflimmern ist eine seltene, genetisch heterogene Herzerkrankung, die durch eine unregelmäßige Aktivierung der Vorhöfe mit unregelmäßiger ventrikulärer Reaktion bei verschiedenen Mitgliedern einer Familie gekennzeichnet ist. Sie kann asymptomatisch sein oder mit Herzklopfen, Dyspnoe und Benommenheit einhergehen. Begleitende Rhythmusstörungen und Kardiomyopathien werden häufig berichtet."},"es":{"name":"Fibrilación auricular hereditaria","definition":"La fibrilación auricular familiar es una enfermedad cardíaca poco frecuente y genéticamente heterogénea caracterizada por la activación errática de las aurículas con una respuesta ventricular irregular en varios miembros de una sola familia. Puede ser asintomática o estar asociada con palpitaciones, disnea y mareos. Son frecuentes los trastornos del ritmo y cardiomiopatías concomitantes."},"it":{"name":"Fibrillazione atriale familiare","definition":"La fibrillazione atriale familiare è una cardiopatia rara, eterogenea dal punto di vista genetico, caratterizzata dall'attivazione irregolare degli atrii con una risposta ventricolare irregolare, in più membri della stessa famiglia. I pazienti possono essere asintomatici, oppure presentare palpitazioni, dispnea e stordimento. Spesso si associano aritmie e cardiomiopatie."},"nl":{"name":"Hereditair atriumfibrilleren","synonyms":["Erfelijk boezemfibrilleren"],"definition":"Familiale atriumfibrillatie is een zeldzame, genetisch heterogene hartziekte die gekarakteriseerd wordt door onregelmatige activatie van de atria met een onregelmatige ventriculaire respons, bij verscheidene leden van één enkele familie. Het kan asymptomatisch zijn of geassocieerd met hartkloppingen, dyspneu en lichthoofdigheid. Gelijktijdige hartritmestoornissen en cardiomyopathieën worden frequent gerapporteerd."},"pt":{"name":"Fibrilação auricular hereditária"},"pl":{"name":"Rodzinne migotanie przedsionków"},"cs":{"name":"Familiární fibrilace síní"},"uk":{"name":"Сімейна фібриляція передсердь","definition":"Familial atrial fibrillation is a rare, genetically heterogenous cardiac disease characterized by erratic activation of the atria with an irregular ventricular response, in various members of a single family. It may be asymptomatic or associated with palpitations, dyspnea and light-headedness. Concomitant rhythm disorders and cardiomyopathies are frequently reported."},"zh":{"name":"家族性心房颤动"},"tr":{"name":"Ailesel atriyal fibrilasyon"}},"xrefs":[{"source":"OMIM","code":"607554","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608583","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"608988","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611493","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611494","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611819","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612201","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612240","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613055","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613120","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613980","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614022","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614049","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614050","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615377","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615378","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615770","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617280","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617912","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I48.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC65.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"45855978"},{"source":"MONDO","code":"0018054","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3468561","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9740","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10088317","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare 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dominant"],"onset":["Adult","Elderly"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2022-11-29","source":"31869399[PMID]_32273045[PMID]","terms":[{"hpo":"HP:0005110","label":"Atrial fibrillation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001727","label":"Thromboembolic stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001907","label":"Thromboembolism","frequency":"Occasional (29-5%)","criteria":null}]}}