{"orpha":166282,"name":"Hereditary sick sinus syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166282/","orphanet_url":"https://www.orpha.net/en/disease/detail/166282","names":{"fr":{"name":"Maladie rythmique auriculaire héréditaire","synonyms":["Maladie rythmique de l'oreillette, forme héréditaire"],"definition":"Trouble rare du rythme cardiaque affectant habituellement les personnes âgées. Il se caractérise à l'électrocardiogramme par une bradycardie sinusale, une fibrillation auriculaire, un arrêt de la tachycardie sinusale auriculaire ou un bloc sino-auriculaire. La maladie se manifeste par une syncope, un étourdissement, des palpitations, une fatigue ou une insuffisance cardiaque. Elle résulte d'un dysfonctionnement du système de conduction cardiaque, sans doute secondaire à une fibrose dégénérative du tissu nodal chez les personnes âgées, ou secondairement à des troubles cardiaques chez les patients plus jeunes."},"de":{"name":"Sick-Sinus-Syndrom, familiäres","synonyms":["Sinusknotensyndrom, hereditäres"],"definition":"Eine seltene Herzrhythmusstörung, die in der Regel bei älteren Menschen auftritt und durch elektrokardiographische Befunde von Sinusbradykardie, Vorhofflimmern, atriale Tachykardie, Sinusstillstand oder sinoatrialer Blockade gekennzeichnet ist und sich durch Symptome wie Ohnmacht, Schwindel, Herzklopfen, Müdigkeit oder sogar Herzversagen äußert. Sie ist das Ergebnis einer Fehlfunktion des Reizleitungssystems des Herzens, die bei älteren Menschen wahrscheinlich auf eine degenerative Fibrose des nodalen Gewebes oder bei jüngeren Patienten auf Herzerkrankungen zurückzuführen ist."},"es":{"name":"Síndrome hereditario del seno enfermo","definition":"Es una enfermedad poco frecuente del ritmo cardiaco, que se da normalmente en ancianos, caracterizada por los signos electrocardiográficos de bradicardia sinusal, fibrilación auricular, taquicardia auricular, pausa sinusal o bloqueo sinoauricular; se manifiesta con síntomas como síncope, vértigos, palpitaciones, fatiga o incluso insuficiencia cardiaca. Está provocado por el mal funcionamiento del sistema de conducción cardiaca, probablemente como consecuencia de la fibrosis degenerativa del tejido del nodo sinusal en ancianos o de trastornos cardiacos en pacientes más jóvenes."},"it":{"name":"Sindrome familiare del seno malato","synonyms":["Disfunzione familiare del seno malato"],"definition":"La sindrome del seno malato è un'aritimia rara, di solito ad esordio in età avanzata, caratterizzata da segni elettrocardiografici come la bradicardia sinusale, la fibrillazione atriale, la tachicardia atriale, l'arresto sinusale, il blocco senoatriale, che si presenta con sincope, vertigini, palpitazioni, affaticamento e addirittura insufficienza cardiaca. È causata dal malfunzionamento del sistema di conduzione cardiaco, probabilmente secondario alla fibrosi degenerativa del tessuto nodale negli anziani o a cardiopatie nei pazienti più giovani."},"nl":{"name":"Hereditair sick sinus-syndroom","definition":"Een zeldzame hartritmestoornis, meestal bij ouderen, gekenmerkt door elektrocardiografische bevindingen van sinusbradycardie, atriumfibrillatie, atriale tachycardie, sinusarrest, of sinoatriaal blok, en zich manifesterend met symptomen als syncope, duizeligheid, hartkloppingen, vermoeidheid, of zelfs hartfalen. De oorzaak is een slecht functionerend hartgeleidingssysteem, waarschijnlijk secundair aan degeneratieve fibrose van knoopweefsel bij ouderen of secundair aan hartaandoening bij jongere patiënten."},"pt":{"name":"Síndrome do nodo sinusal doente hereditária"},"pl":{"name":"Zespół chorej zatoki","synonyms":["Dysfunkcja węzła zatokowego"],"definition":"Rzadka choroba rytmu serca, zwykle występująca u osób starszych, charakteryzująca się elektrokardiograficznymi objawami bradykardii zatokowej, migotania przedsionków, tachykardii przedsionkowej, zatrzymania zatokowego lub bloku zatokowo-przedsionkowego, objawiająca się objawami takimi jak omdlenia, zawroty głowy, kołatanie serca, zmęczenie, a nawet serce awaria. Wynika to z nieprawidłowego funkcjonowania układu przewodzącego serca, prawdopodobnie wtórnego do zwyrodnieniowego włóknienia tkanki węzłowej u osób starszych lub wtórnego do zaburzeń pracy serca u młodszych pacjentów."},"cs":{"name":"Familiární \"sick sinus\" syndrom","synonyms":["Dědičná dysfunkce sinusového uzlu"]},"uk":{"name":"Сімейний синдром слабкості синусового вузла","definition":"A rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients."},"zh":{"name":"家族性病态窦房结综合征","definition":"病态窦房结综合征是一种罕见的心律失常，通常发生在老年人，其特征是心电图表现为窦性心动过缓、心房颤动、房性心动过速、窦性停搏或窦房传导阻滞，症状有晕厥、昏眩、心悸、疲劳，甚至心力衰竭。该病是由心脏传导系统功能障碍引起的，可能继发于老年人结组织退行性纤维化，也可能继发于年轻患者的心脏疾病。"},"tr":{"name":"ailesel hasta sinüs sendromu"}},"xrefs":[{"source":"OMIM","code":"163800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"182190","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608567","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"614090","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619464","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I49.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC65.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1495462959"},{"source":"MONDO","code":"0012061","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D012804","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0340491","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13663","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10040639","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1260,"name":"OBSOLETE: Sino-auricular heart block","status":"inactive"},{"type":"Referred to","orpha":3122,"name":"OBSOLETE: Sinus node disease-myopia syndrome","status":"inactive"}],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":101934,"name":"Genetic cardiac rhythm disease","classifications":[146,156]}],"children":[],"genes":[{"symbol":"GNB2","name":"G protein subunit beta 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28219978[PMID]","hgnc":"4398","ensembl":"ENSG00000172354","omim":"139390","loci":["7q22.1"]},{"symbol":"HCN4","name":"hyperpolarization activated cyclic nucleotide gated potassium channel 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"16882","ensembl":"ENSG00000138622","omim":"605206","loci":["15q24.1"]},{"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":null,"hgnc":"10593","ensembl":"ENSG00000183873","omim":"600163","loci":["3p22.2"]},{"symbol":"MYH6","name":"myosin heavy chain 6","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":null,"hgnc":"7576","ensembl":"ENSG00000197616","omim":"160710","loci":["14q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}