Congenital heart block
Synonyms: Congenital atrioventricular block
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital heart block | Congenital atrioventricular block |
| fr | Bloc cardiaque congénital | Bloc auriculoventriculaire congénital |
| de | Herzblock, kongenitaler | Atrioventrikulärer Block, kongenitaler |
| es | Bloqueo auriculoventricular completo congénito | Bloqueo atrioventricular congénito · Bloqueo cardíaco congénito |
| it | Blocco cardiaco congenito | Blocco atrioventricolare congenito |
| nl | Congenitaal hartblok | Congenitaal atrioventriculair blok |
| pt | Bloqueio cardíaco congénito | Bloqueio auriculo-ventricular congénito |
| pl | Wrodzony blok serca | Wrodzony blok przedsionkowo-komorowy |
| cs | Vrozená srdeční blokáda | Vrozená AV blokáda |
| uk | Вроджена блокада серця | Вроджена атріовентрикулярна блокада |
| zh | 先天性心脏传导阻滞 | 先天性房室传导阻滞 |
| tr | Doğumsal kalp bloğu | Doğumsal atriyoventriküler blok |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 234700 | E | validated | |
| ICD-10 | Q24.6 | E | specific | validated |
| ICD-11 | LA8Y | NTBT | index | validated |
| MONDO | 0009326 | E | validated | |
| MeSH | C535758 | E | validated | |
| UMLS | C0149530 | E | validated | |
| GARD | 6164 | E | validated | |
| MedDRA | 10019263 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:101934Genetic cardiac rhythm disease
rare cardiac diseases; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 4.54 / 100 000 | Worldwide | Value and class | Validated | 4273004[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
29 annotations · validated 2023-04-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001678 | Atrioventricular block | |
| Very frequent (99-80%) | ||
| HP:0001709 | Third degree atrioventricular block | |
| Frequent (79-30%) | ||
| HP:0001622 | Premature birth | |
| HP:0030365 | Vaginal birth after Caesarian | |
| Occasional (29-5%) | ||
| HP:0001662 | Bradycardia | |
| HP:0001635 | Congestive heart failure | |
| HP:0030830 | Crackles | |
| HP:0000961 | Cyanosis | |
| HP:0003546 | Exercise intolerance | |
| HP:0012378 | Fatigue | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0033113 | Gallop rhythm | |
| HP:0001789 | Hydrops fetalis | |
| HP:0000975 | Hyperhidrosis | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001562 | Oligohydramnios | |
| HP:0000980 | Pallor | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001655 | Patent foramen ovale | |
| HP:0001698 | Pericardial effusion | |
| HP:0012398 | Peripheral edema | |
| HP:0005184 | Prolonged QTc interval | |
| HP:0011706 | Second degree atrioventricular block | |
| HP:0001279 | Syncope | |
| HP:0001612 | Weak cry | |
| Very rare (<4-1%) | ||
| HP:0031653 | Abnormal heart valve physiology | |
| HP:0001706 | Endocardial fibroelastosis | |
| HP:0011705 | First degree atrioventricular block | |
| HP:0002202 | Pleural effusion | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 30873413[PMID]_33025893[PMID]_25800217[PMID]_23656914[PMID]_37031100[PMID]_17711901[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/60041
- This record as JSON: /data/d/60041.json