{"orpha":60041,"name":"Congenital heart block","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital atrioventricular block"],"definition":"Congenital heart block (CHB) is a rare disorder of atrioventricular conduction, characterized by absence of conduction of atrial impulses to the ventricles with slower ventricular rhythm (atrioventricular dissociation). CHB can occur in association with immunological evidence of maternal connective disease (autoimmune CHD), fetal structural CHD or can be idiopathic.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-60041/","orphanet_url":"https://www.orpha.net/en/disease/detail/60041","names":{"fr":{"name":"Bloc cardiaque congénital","synonyms":["Bloc auriculoventriculaire congénital"],"definition":"Le bloc cardiaque congénital (BCC) est un trouble rare de la conduction atrio-ventriculaire caractérisé par l'absence de conduction des impulsions auriculaires vers les ventricules, avec un rythme ventriculaire ralenti (dissociation auriculoventriculaire). Le BCC peut survenir en association avec une maladie du tissu conjonctif maternel (maladie cardiaque congénitale autoimmune), une maladie cardiaque congénitale structurelle foetale ou il peut être idiopathique."},"de":{"name":"Herzblock, kongenitaler","synonyms":["Atrioventrikulärer Block, kongenitaler"]},"es":{"name":"Bloqueo auriculoventricular completo congénito","synonyms":["Bloqueo atrioventricular congénito","Bloqueo cardíaco congénito"],"definition":"Es un trastorno poco frecuente de la conducción atrioventricular caracterizado por la ausencia de conducción de los impulsos auriculares hacia los ventrículos, con un ritmo ventricular más lento (y , por lo tanto, disociación atrioventricular). Puede ocurrir como consencuencia de enfermedades inmunológicas del tejido conectivo maternas (CAVB autoinmune), en relación a patología estructural fetal o ser idiopático."},"it":{"name":"Blocco cardiaco congenito","synonyms":["Blocco atrioventricolare congenito"],"definition":"Il blocco cardiaco congenito (CHB) è una malattia rara della conduzione atrioventricolare, caratterizzata da assenza della conduzione degli impulsi atriali verso i ventricoli, con rallentamento del ritmo ventricolare (dissociazione atrioventricolare). Il CHB può associarsi all'evidenza immunologica di una malattia materna del tessuto connettivo (CHD autoimmune), può essere di tipo strutturale (CHD strutturale) oppure diopatico."},"nl":{"name":"Congenitaal hartblok","synonyms":["Congenitaal atrioventriculair blok"],"definition":"Congenitaal hartblok (CHB) is een zeldzame stoornis van de atrioventriculaire geleiding, en wordt gekarakteriseerd door afwezigheid van geleiding van atriale impulsen naar de ventrikels met een trager ventriculair ritme (atrioventriculaire dissociatie). CHB kan voorkomen in associatie met immunologisch bewijs van maternale bindweefselziekte (auto-immune CHD), foetale structurele CHD of kan idiopathisch zijn."},"pt":{"name":"Bloqueio cardíaco congénito","synonyms":["Bloqueio auriculo-ventricular congénito"]},"pl":{"name":"Wrodzony blok serca","synonyms":["Wrodzony blok przedsionkowo-komorowy"]},"cs":{"name":"Vrozená srdeční blokáda","synonyms":["Vrozená AV blokáda"]},"uk":{"name":"Вроджена блокада серця","synonyms":["Вроджена атріовентрикулярна блокада"],"definition":"Congenital heart block (CHB) is a rare disorder of atrioventricular conduction, characterized by absence of conduction of atrial impulses to the ventricles with slower ventricular rhythm (atrioventricular dissociation). CHB can occur in association with immunological evidence of maternal connective disease (autoimmune CHD), fetal structural CHD or can be idiopathic."},"zh":{"name":"先天性心脏传导阻滞","synonyms":["先天性房室传导阻滞"]},"tr":{"name":"Doğumsal kalp bloğu","synonyms":["Doğumsal atriyoventriküler blok"]}},"xrefs":[{"source":"OMIM","code":"234700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q24.6","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA8Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1096954866"},{"source":"MONDO","code":"0009326","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535758","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0149530","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6164","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10019263","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":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.54,"area":"Worldwide","status":"Validated","source":"4273004[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-04-26","source":"30873413[PMID]_33025893[PMID]_25800217[PMID]_23656914[PMID]_37031100[PMID]_17711901[PMID]","terms":[{"hpo":"HP:0001678","label":"Atrioventricular block","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001709","label":"Third degree atrioventricular block","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030365","label":"Vaginal birth after Caesarian","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001662","label":"Bradycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030830","label":"Crackles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033113","label":"Gallop rhythm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012398","label":"Peripheral edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005184","label":"Prolonged QTc interval","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011706","label":"Second degree atrioventricular block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001612","label":"Weak cry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031653","label":"Abnormal heart valve physiology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001706","label":"Endocardial fibroelastosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011705","label":"First degree atrioventricular block","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Very rare (<4-1%)","criteria":null}]}}