Congenital heart block
disease diseaseOn this page
Also known as congenital atrioventricular blockheart block, congenital
Summary
Congenital heart block (MONDO:0009326) is a disease and 4 clinical trials. Top therapeutic interventions include hydroxychloroquine. A subtype of atrioventricular block — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 29
- Clinical trials: 4
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 4.54 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
29 HPO clinical features (Orphanet curated; top 29 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001678 | Atrioventricular block | Obligate (100%) |
| HP:0001709 | Third degree atrioventricular block | Very frequent (80-99%) |
| HP:0001622 | Premature birth | Frequent (30-79%) |
| HP:0030365 | Vaginal birth after Caesarian | Frequent (30-79%) |
| HP:0000961 | Cyanosis | Occasional (5-29%) |
| HP:0000975 | Hyperhidrosis | Occasional (5-29%) |
| HP:0000980 | Pallor | Occasional (5-29%) |
| HP:0001279 | Syncope | Occasional (5-29%) |
| HP:0001511 | Intrauterine growth retardation | Occasional (5-29%) |
| HP:0001562 | Oligohydramnios | Occasional (5-29%) |
| HP:0001612 | Weak cry | Occasional (5-29%) |
| HP:0001635 | Congestive heart failure | Occasional (5-29%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (5-29%) |
| HP:0001655 | Patent foramen ovale | Occasional (5-29%) |
| HP:0001662 | Bradycardia | Occasional (5-29%) |
| HP:0001698 | Pericardial effusion | Occasional (5-29%) |
| HP:0001789 | Hydrops fetalis | Occasional (5-29%) |
| HP:0003546 | Exercise intolerance | Occasional (5-29%) |
| HP:0005184 | Prolonged QTc interval | Occasional (5-29%) |
| HP:0008872 | Feeding difficulties in infancy | Occasional (5-29%) |
| HP:0011706 | Second degree atrioventricular block | Occasional (5-29%) |
| HP:0012378 | Fatigue | Occasional (5-29%) |
| HP:0012398 | Peripheral edema | Occasional (5-29%) |
| HP:0030830 | Crackles | Occasional (5-29%) |
| HP:0033113 | Gallop rhythm | Occasional (5-29%) |
| HP:0001706 | Endocardial fibroelastosis | Very rare (<1-4%) |
| HP:0002202 | Pleural effusion | Very rare (<1-4%) |
| HP:0011705 | First degree atrioventricular block | Very rare (<1-4%) |
| HP:0031653 | Abnormal heart valve physiology | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | congenital heart block |
| Mondo ID | MONDO:0009326 |
| MeSH | C535758 |
| OMIM | 234700 |
| Orphanet | 60041 |
| DOID | DOID:990 |
| ICD-10-CM | Q24.6 |
| ICD-11 | 1096954866 |
| SNOMED CT | 46619002 |
| UMLS | C0149530 |
| MedGen | 57432 |
| GARD | 0006164 |
| MedDRA | 10019263 |
| NORD | 1218 |
| Is cancer (heuristic) | no |
Also known as: congenital atrioventricular block · heart block, congenital
Disease family
This is a subtype of atrioventricular block. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › heart disorder › heart conduction disease › atrioventricular block › congenital heart block
Related subtypes (3): first-degree atrioventricular block, second-degree atrioventricular block, third-degree atrioventricular block
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 4.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 2 |
| PHASE2 | 1 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01379573 | PHASE2 | COMPLETED | Preventive Approach to Congenital Heart Block With Hydroxychloroquine |
| NCT00460928 | EARLY_PHASE1 | COMPLETED | Preventive IVIG Therapy for Congenital Heart Block |
| NCT00007358 | Not specified | COMPLETED | Dexamethasone Treatment for Congenital Heart Block (CHB) in Newborns With Lupus |
| NCT00074373 | Not specified | COMPLETED | The Research Registry for Neonatal Lupus |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| HYDROXYCHLOROQUINE | 4 | 1 |
Related Atlas pages
- Drugs: Hydroxychloroquine