{"orpha":1344,"name":"Isolated atrial standstill","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated atrial cardiomyopathy with heart block"],"definition":"A rare cardiac rhythm disease characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1344/","orphanet_url":"https://www.orpha.net/en/disease/detail/1344","names":{"fr":{"name":"Syndrome de cardiomyopathie auriculaire-bloc cardiaque isolé","definition":"Trouble rare du rythme cardiaque caractérisé par une absence transitoire ou permanente de l'activité auriculaire électrique et mécanique. L'électrocardiographie met en évidence une bradycardie, des rythmes supraventriculaires ectopiques, l'absence d'excitabilité auriculaire et d'ondes P."},"de":{"name":"Vorhofstillstand, isolierter","synonyms":["Isolierte atriale Kardiomyopathie mit Herzblock"],"definition":"Der Vorhofstillstand ist eine seltene, bisher nur bei wenigen familiären und sporadischen Fällen beschriebene Herzrhythmusstörung mit vorübergehendem oder dauerndem Fehlen elektrischer und motorischer Vorhofaktivität. Elektrokardiographische Befunde sind Bradykardie, ektope supraventrikuläre Rhythmen, fehlende Vorhof-Erregbarkeit und fehlende P-Wellen."},"es":{"name":"Arresto auricular aislado","synonyms":["Miocardiopatía auricular aislada con bloqueo cardíaco"],"definition":"Es una enfermedad rara del ritmo cardiaco caracterizada por la ausencia transitoria o permanente de actividad auricular eléctrica y mecánica. Los hallazgos electrocardiográficos incluyen la bradicardia, los ritmos ectópicos supraventriculares, la pérdida de excitabilidad auricular y la ausencia de ondas P."},"it":{"name":"Blocco atriale","synonyms":["Cardiomiopatia atriale con blocco cardiaco"],"definition":"La cardiomiopatia atriale con blocco cardiaco è un'aritmia rara, finora segnalata in pochi casi familiari e sporadici, caratterizzata dall'assenza permanente o transitoria dell'attività atriale meccanica ed elettrica. I segni all'elettrocardiogramma comprendono la bradicardia, ritmi sopraventricolari ectopici, assenza dell'eccitabilità atriale e delle onde P."},"nl":{"name":"Geïsoleerde atriale stilstand","synonyms":["Geïsoleerde atriale cardiomyopathie met hartblok"],"definition":"Een zeldzame hartritmestoornis, gekarakteriseerd door een transiënte of permanente afwezigheid van elektrische en mechanische atriale activiteit. Elektrocardiografische bevindingen zijn onder meer bradycardie, ectopische supraventriculaire ritmes, het ontbreken van atriale exciteerbaarheid en afwezigheid van P-golven."},"pt":{"name":"Paragem auricular isolada","synonyms":["Miocardiopatia auricular com bloqueio cardíaco"]},"pl":{"name":"Zatrzymanie elektrycznej czynności przedsionków","synonyms":["Kardiomiopatia przedsionkowa z blokiem serca"]},"cs":{"name":"Atriální zástava","synonyms":["Atriální kardiomyopatie se srdeční blokádou"]},"uk":{"name":"Зупинка передсердь","synonyms":["Передсердна кардіоміопатія з серцевою блокадою"],"definition":"A rare cardiac rhythm disease characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves."},"zh":{"name":"心房静止","synonyms":["心房心肌病伴心脏传导阻滞"]},"tr":{"name":"Atriyal durma","synonyms":["Kalp bloğu ile seyreden atriyal kardiyomiyopati"]}},"xrefs":[{"source":"OMIM","code":"108770","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615745","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I45.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC80.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"483869734"},{"source":"MONDO","code":"0015281","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0541782","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10087237","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97929,"name":"Rare cardiac disease"},"parents":[{"orpha":217635,"name":"Familial restrictive cardiomyopathy","classifications":[146,156]},{"orpha":101934,"name":"Genetic cardiac rhythm disease","classifications":[146,156]}],"children":[],"genes":[{"symbol":"NPPA","name":"natriuretic peptide A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23275345[PMID]","hgnc":"7939","ensembl":"ENSG00000175206","omim":"108780","loci":["1p36.22"]},{"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":"12522116[PMID]","hgnc":"10593","ensembl":"ENSG00000183873","omim":"600163","loci":["3p22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-07-08","source":"32755394[PMID]_29387541[PMID]_26897154[PMID]","terms":[{"hpo":"HP:0031595","label":"Abnormal P wave","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025478","label":"Atrial standstill","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031546","label":"Cardiac conduction abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005155","label":"Ventricular escape rhythm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410174","label":"Increased circulating troponin T concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030682","label":"Left ventricular noncompaction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030973","label":"Postexertional malaise","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012664","label":"Reduced left ventricular ejection fraction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011712","label":"Right bundle branch block","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011704","label":"Sick sinus syndrome","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001662","label":"Bradycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002301","label":"Hemiplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002140","label":"Ischemic stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011707","label":"Mobitz I atrioventricular block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001907","label":"Thromboembolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004756","label":"Ventricular tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null}]}}