Congenital heart block
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Congenital atrioventricular block maternal autoimmune-mediated fetal congenital heart block Autoimmune congenital heart block |
| Number of Symptoms | 31 |
| OrphanetNr: | 60041 |
| OMIM Id: |
234700
|
| ICD-10: |
Q24.6 |
| UMLs: |
C0149530 |
| MeSH: |
C535758 |
| MedDRA: |
10019263 |
| Snomed: |
46619002 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
|
| Age of onset: |
Neonatal Infancy 18195175 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic cardiac rhythm disease
-Rare cardiac disease -Rare genetic disease |
Comment:
| Congenital heart block is a very rare disorder of atrioventricular conduction, characterized by atrioventricular dissociation, in which atrial impulses are not conducted to the ventricles and have no relationship with the slower ventricular rhythm.(PMID:25247254). A subtype of congenital heart block occurs in the absence of major structural anomalies and is associated with maternal autoimmune antibodies (PMID:22368629). |
Symptom Information:
|
|
(HPO:0001508) | Failure to thrive | 23551183 | IBIS | 454 / 7739 | ||
|
|
(HPO:0001706) | Endocardial fibroelastosis | 25247254 | IBIS | 20 / 7739 | ||
|
|
(HPO:0011537) | Left atrial isomerism | 22368629 | IBIS | 2 / 7739 | ||
|
|
(HPO:0001629) | Ventricular septal defect | 17711901 | IBIS | 316 / 7739 | ||
|
|
(HPO:0006690) | Myocardial calcification | 23551183 | IBIS | 3 / 7739 | ||
|
|
(HPO:0001653) | Mitral regurgitation | 4812082 | IBIS | 64 / 7739 | ||
|
|
(HPO:0005180) | Tricuspid regurgitation | 18195175 | IBIS | 20 / 7739 | ||
|
|
(HPO:0001671) | Abnormality of the cardiac septa | 1112019 | IBIS | 55 / 7739 | ||
|
|
(HPO:0006695) | Atrioventricular canal defect | 25800217 | IBIS | 27 / 7739 | ||
|
|
(HPO:0001638) | Cardiomyopathy | 25247254 | IBIS | 192 / 7739 | ||
|
|
(HPO:0001685) | Myocardial fibrosis | 23551183 | IBIS | 30 / 7739 | ||
|
|
(HPO:0001643) | Patent ductus arteriosus | 17711901 | IBIS | 228 / 7739 | ||
|
|
(HPO:0001642) | Pulmonic stenosis | 17711901 | IBIS | 89 / 7739 | ||
|
|
(HPO:0005150) | Abnormal atrioventricular conduction | Very frequent [IBIS] | 25247254 | IBIS | 16 / 7739 | |
|
|
(HPO:0004752) | Congenital atrioventricular dissociation | Very frequent [IBIS] | 25247254 | IBIS | 3 / 7739 | |
|
|
(HPO:0001662) | Bradycardia | 26002776 | IBIS | 41 / 7739 | ||
|
|
(MedDRA:10057393) | Bifascicular block | 2803880 | IBIS | 4 / 7739 | ||
|
|
(HPO:0011705) | First degree atrioventricular block | 25247254 | IBIS | 13 / 7739 | ||
|
|
(HPO:0011706) | Second degree atrioventricular block | 25247254 | IBIS | 2 / 7739 | ||
|
|
(HPO:0001692) | Primary atrial arrhythmia | 4812082 | IBIS | 16 / 7739 | ||
|
|
(HPO:0001678) | Atrioventricular block | 25247254 | IBIS | 59 / 7739 | ||
|
|
(HPO:0006681) | Absent atrioventricular node | Frequent [IBIS] | 17711901 | IBIS | 1 / 7739 | |
|
|
(HPO:0001635) | Congestive heart failure | 17711901 | IBIS | 232 / 7739 | ||
|
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(HPO:0001328) | Specific learning disability | 23057469 | IBIS | 114 / 7739 | ||
|
|
(HPO:0001270) | Motor delay | 23057469 | IBIS | 322 / 7739 | ||
|
|
(HPO:0011437) | Maternal autoimmune disease | Frequent [IBIS] | 25247254 | IBIS | 1 / 7739 | |
|
|
(HPO:0030057) | Autoimmune antibody positivity | Frequent [IBIS] | 25247254 | IBIS | 6 / 7739 | |
|
|
(HPO:0012722) | Heart block | Very frequent [IBIS] | 25247254 | IBIS | 5 / 7739 | |
|
|
(HPO:0012758) | Neurodevelopmental delay | 23057469 | IBIS | 949 / 7739 | ||
|
|
(MedDRA:10060213) | Anti-SS-A antibody | 25247254 | IBIS | 1 / 7739 | ||
|
|
(MedDRA:10060214) | Anti-SS-B antibody | 25247254 | IBIS | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|