MCID: HRT035
MIFTS: 42

Heart Block, Congenital

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Heart Block, Congenital

MalaCards integrated aliases for Heart Block, Congenital:

Name: Heart Block, Congenital 57
Congenital Heart Block 11 19 58 75 28 53 43 14 71 31
Congenital Atrioventricular Block 58
Heart Block Congenital 19

Characteristics:


Inheritance:

? Autosomal recessive 57

Prevelance:

Congenital Heart Block: 1-9/100000 (Worldwide) 58

Age Of Onset:

Congenital Heart Block: Infancy,Neonatal 58

Classifications:



External Ids:

Disease Ontology 11 DOID:990
OMIM® 57 234700
ICD9CM 34 746.86
MeSH 43 C535758
SNOMED-CT 68 156924006
ICD10 31 Q24.6
MESH via Orphanet 44 C535758
ICD10 via Orphanet 32 Q24.6
UMLS via Orphanet 72 C0149530 C3884338
Orphanet 58 ORPHA60041
MedGen 40 C0149530
UMLS 71 C0149530

Summaries for Heart Block, Congenital

GARD: 19 Congenital heart block is a rare condition that affects the heart's electrical system, which controls and coordinates its pumping function. In infants affected by this condition, the electrical signal that spreads across the heart and causes it to contract and pump blood, is slowed or completely interrupted. This can interfere with the heart's normal rate and rhythm and may significantly limit the ability of the heart to pump blood to the rest of the body. Congenital heart block generally develops between 18 and 33 weeks of pregnancy. The underlying cause of the condition is poorly understood. However, mothers with lupus or another autoimmune diseases and parents with congenital heart disorders have an increased risk of having a child with a Congenital heart block.

MalaCards based summary: Heart Block, Congenital, also known as congenital heart block, is related to atrioventricular block and third-degree atrioventricular block. An important gene associated with Heart Block, Congenital is TRIM21 (Tripartite Motif Containing 21). The drugs Hydroxychloroquine and Antirheumatic Agents have been mentioned in the context of this disorder. Affiliated tissues include Heart, atrioventricular node and cardiac myocytes, and related phenotypes are mitral regurgitation and cardiomyopathy

Orphanet: 58 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.

Disease Ontology: 11 An atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life.

Wikipedia: 75 The congenital heart block (CHB) is the heart block that is diagnosed in fetus (in utero) or within the... more...

More information from OMIM: 234700

Related Diseases for Heart Block, Congenital

Diseases in the Heart Block, Congenital family:

Progressive Familial Heart Block, Type Ia Progressive Familial Heart Block, Type Ii
Progressive Familial Heart Block, Type Ib Progressive Familial Heart Block

Diseases related to Heart Block, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 177)
# Related Disease Score Top Affiliating Genes
1 atrioventricular block 31.3 TRIM21 SSB RO60
2 third-degree atrioventricular block 31.2 TRIM21 SSB CALR CACNA1D
3 endocardial fibroelastosis 30.7 TRIM21 SSB RO60
4 lupus erythematosus 30.6 TRIM21 SSB SNRNP70 RO60 CALR APOH
5 subacute cutaneous lupus erythematosus 30.2 TRIM21 CALR
6 second-degree atrioventricular block 30.1 TRIM21 SSB RO60 CACNA1D
7 autoimmune disease 30.0 TRIM21 TNFSF13B RO60 FCGRT CALR APOH
8 raynaud disease 29.9 TRIM21 SNRNP70 APOH
9 collagen disease 29.8 TRIM21 SNRNP70 H2AC18 APOH
10 sjogren syndrome 29.7 TRIM21 TNFSF13B SSB SPTAN1 RO60 CALR
11 connective tissue disease 29.7 TRIM21 TNFSF13B TLR7 SNRNP70 H2AC18 CALR
12 mikulicz disease 29.6 TRIM21 TNFSF13B SSB
13 mixed connective tissue disease 29.4 TNFSF13B SNRNP70 APOH
14 systemic scleroderma 29.3 TRIM21 TNFSF13B SSB SNRNP70 RO60 H2AC18
15 cutaneous lupus erythematosus 29.1 TRIM21 TNFSF13B TLR7 SSB RO60
16 thrombocytopenia 28.9 TRIM21 TNFSF13B TLR7 CALR APOH
17 systemic lupus erythematosus 28.7 TRIM21 TNFSF13B TLR7 SSB SPTAN1 SNRNP70
18 neonatal systemic lupus erythematosus 11.2
19 neonatal lupus erythematosus 10.5
20 systemic lupus erythematosus 1 10.5
21 hydrops fetalis, nonimmune 10.4
22 exanthem 10.4
23 myocarditis 10.3
24 dilated cardiomyopathy 10.3
25 persistent fetal circulation syndrome 10.3
26 pericardial effusion 10.3
27 congenitally corrected transposition of the great arteries 10.3
28 diffuse infiltrative lymphocytosis syndrome 10.3 TRIM21 SSB
29 congestive heart failure 10.2
30 diffuse scleroderma 10.2 TRIM21 SNRNP70
31 punctate epithelial keratoconjunctivitis 10.2 TRIM21 TNFRSF25
32 parotitis 10.2 TRIM21 SSB
33 transposition of the great arteries, dextro-looped 10.2
34 double discordia 10.2
35 heart septal defect 10.2
36 crest syndrome 10.2 SNRNP70 H2AC18
37 neonatal myasthenia gravis 10.2 RO60 FCGRT
38 drug-induced lupus erythematosus 10.2 TRIM21 SSB H2AC18
39 dyskinesia of esophagus 10.2 TRIM21 SNRNP70
40 parotid disease 10.1 TRIM21 TNFRSF25 SSB
41 mononeuropathy 10.1 TRIM21 SSB
42 antisynthetase syndrome 10.1 TRIM21 SNRNP70 RO60
43 childhood type dermatomyositis 10.1 TRIM21 SNRNP70 RO60
44 telangiectasis 10.1 TRIM21 SNRNP70 H2AC18
45 atrioventricular dissociation 10.1
46 ceroid lipofuscinosis, neuronal, 5 10.1
47 visceral heterotaxy 10.1
48 first-degree atrioventricular block 10.1
49 sinoatrial node disease 10.1
50 hypothyroidism 10.1

Graphical network of the top 20 diseases related to Heart Block, Congenital:



Diseases related to Heart Block, Congenital

Symptoms & Phenotypes for Heart Block, Congenital

Human phenotypes related to Heart Block, Congenital:

30 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mitral regurgitation 30 HP:0001653
2 cardiomyopathy 30 HP:0001638
3 myocardial fibrosis 30 HP:0001685
4 atrial arrhythmia 30 HP:0001692
5 myocardial calcification 30 HP:0006690
6 absent atrioventricular node 30 HP:0006681

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Cardiac:
mitral regurgitation
cardiomyopathy
myocardial fibrosis
atrial arrhythmia
myocardial calcification
more

Clinical features from OMIM®:

234700 (Updated 24-Oct-2022)

Drugs & Therapeutics for Heart Block, Congenital

Drugs for Heart Block, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxychloroquine Approved Phase 2 118-42-3 3652
2 Antirheumatic Agents Phase 2
3 Autoantibodies Phase 2
4 Anti-Infective Agents Phase 2
5 Antimalarials Phase 2
6 Antiprotozoal Agents Phase 2
7 Antiparasitic Agents Phase 2
8 Immunoglobulins, Intravenous Phase 2
9
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3 3680
10
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 3003 5743
11 glucocorticoids
12 Antineoplastic Agents, Hormonal
13 Antiemetics
14 Hormones
15 Hormone Antagonists
16 Anti-Inflammatory Agents
17 Gastrointestinal Agents
18 gamma-Globulins Early Phase 1
19 Rho(D) Immune Globulin Early Phase 1
20 Immunologic Factors Early Phase 1
21 Antibodies
22 Immunoglobulins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Preventive Approach to Congenital Heart Block With Hydroxychloroquine Completed NCT01379573 Phase 2 Hydroxychloroquine
2 Study of Dexamethasone in Neonatal Lupus Congenital Heart Block; PRIDE (PR Interval and Dexamethasone Evaluation) in Congenital Heart Block Completed NCT00007358 Dexamethasone or other corticosteroid
3 Preventive IVIG Therapy for Congenital Heart Block (The PITCH Study) Completed NCT00460928 Early Phase 1 intravenous immune globulin (IVIG)
4 The Research Registry for Neonatal Lupus Recruiting NCT00074373

Search NIH Clinical Center for Heart Block, Congenital

Cochrane evidence based reviews: congenital heart block

Genetic Tests for Heart Block, Congenital

Genetic tests related to Heart Block, Congenital:

# Genetic test Affiliating Genes
1 Congenital Heart Block 28

Anatomical Context for Heart Block, Congenital

Organs/tissues related to Heart Block, Congenital:

MalaCards : Heart, Atrioventricular Node, Cardiac Myocytes, Salivary Gland, Nk Cells, B Cells, Liver
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Heart Block, Congenital:
# Tissue Anatomical CompartmentCell Relevance
1 Heart Atrioventricular Node Atrioventricular Node Cells Affected by disease

Publications for Heart Block, Congenital

Articles related to Heart Block, Congenital:

(show top 50) (show all 969)
# Title Authors PMID Year
1
Complete congenital heart block is associated with increased autoantibody titers against calreticulin. 53 62 57
8904349 1996
2
Isolated congenital heart block. Long-term outcome of mothers and characterization of the immune response to SS-A/Ro and to SS-B/La. 62 57
8240435 1993
3
Family studies of congenital heart block associated with Ro antibody. 62 57
2803880 1989
4
Complete congenital heart block followed by anti-Ro/SSA in adult life. Studies of an informative family. 62 57
3261539 1988
5
Congenital heart block, systemic lupus erythematosus, and anti-Ro antibodies. 62 57
4038362 1985
6
Delayed maternal lupus after delivery of offspring with congenital heart block. 62 57
7149874 1982
7
Familial congenital heart block and hydrops fetalis. 62 57
7436490 1980
8
Congenital complete heart block in the newborn associated with maternal systemic lupus erythematosus and other connective tissue disorders. 62 57
420526 1979
9
Association of maternal systemic lupus erythematosus with congenital complete heart block. 62 57
917056 1977
10
Congenital heart block in newborns of mothers with connective tissue disease. 62 57
301070 1977
11
FAMILIAL CONGENITAL HEART BLOCK. 62 57
14147626 1964
12
ACQUIRED LESIONS OF THE CONDUCTION SYSTEM IN FAMILIAL CONGENITAL HEART BLOCK. 62 57
14127025 1964
13
Monozygotic twins discordant for congenital complete heart block. 57
9041950 1997
14
Congenital complete heart block in children of mothers with primary Sjögren's syndrome. 57
1360080 1992
15
Molecular analysis of the 60-kDa human Ro ribonucleoprotein. 57
3200833 1988
16
De subitaneis mortibus. X. Familial congential heart block. 57
1112019 1975
17
A syndrome of congenital cardiomyopathy with mitral regurgitation, complete heart block and atrial arrhythmia. 57
4812082 1974
18
Familial heart block and sinus bradycardia. Classification and natural history. 57
5016825 1972
19
Familial congenital complete heart block. Its occurrence in 2 children with another genetically determined anomaly. 57
13764564 1961
20
Congenital complete A-V block in three siblings. 57
13842632 1960
21
Failure of intravenous immunoglobulin to prevent congenital heart block: Findings of a multicenter, prospective, observational study. 53 62
20131278 2010
22
[Successful outcome of a pregnancy with an extremely low fetal heart rate (34 bpm) due to isolated complete heart block--case report]. 53 62
19886247 2009
23
Ro52, Ro60 and La IgG autoantibody levels and Ro52 IgG subclass profiles longitudinally throughout pregnancy in congenital heart block risk pregnancies. 53 62
16830880 2006
24
Structurally derived mutations define congenital heart block-related epitopes within the 200-239 amino acid stretch of the Ro52 protein. 53 62
15683447 2005
25
Cloning and characterization of two human Ro52-specific monoclonal autoantibodies directed towards a domain associated with congenital heart block. 53 62
14987746 2004
26
SS-A/Ro52, an autoantigen involved in CD28-mediated IL-2 production. 53 62
12646630 2003
27
Successful outcome in a fetus with an extremely low heart rate due to isolated complete congenital heart block. 53 62
12601845 2003
28
Autoantibodies against neonatal heart M1 muscarinic acetylcholine receptor in children with congenital heart block. 53 62
11247640 2001
29
Sjögren autoantibodies modify neonatal cardiac function via M1 muscarinic acetylcholine receptor activation. 53 62
10402042 1999
30
Circulating antibodies against neonatal cardiac muscarinic acetylcholine receptor in patients with Sjögren's syndrome. 53 62
8974073 1996
31
Ro and La antigens and maternal anti-La idiotype on the surface of myocardial fibres in congenital heart block. 53 62
2031658 1991
32
Possible association between anti-Ro antibodies and myocarditis or cardiac conduction defects in adults with systemic lupus erythematosus. 53 62
2396870 1990
33
Long-term physical and neurodevelopmental outcomes after antenatal betamethasone administration for congenital heart block prevention. 62
33207991 2022
34
Health Outcomes of 215 Mothers of Children With Autoimmune Congenital Heart Block: Analysis of the French Neonatal Lupus Syndrome Registry. 62
35501147 2022
35
Anti-Ro52 Autoantibody Is Common in Systemic Autoimmune Rheumatic Diseases and Correlating with Worse Outcome when Associated with interstitial lung disease in Systemic Sclerosis and Autoimmune Myositis. 62
35040083 2022
36
Short and long-term outcomes of children with autoimmune congenital heart block treated with a combined maternal-neonatal therapy. A comparison study. 62
35717457 2022
37
Association of anti-Ro seropositivity with cardiac rhythm and conduction disturbances. 62
36148481 2022
38
Transient type I 2nd-degree congenital atrioventricular block: A case report. 62
35917627 2022
39
Auxilin is a novel susceptibility gene for congenital heart block which directly impacts fetal heart function. 62
35470161 2022
40
Clinical Features, Autoantibodies, and Outcome of Neonatal Lupus Erythematosus. 62
33103534 2022
41
Complete Congenital Atrioventricular Block Found by Ultrasound in Pregnancy. 62
35569890 2022
42
Minimally invasive permanent pacemaker implantation immediately after birth: from delivery room to heart surgery. 62
34294189 2022
43
His Bundle pacing for congenital complete AV block: An attempt to fix a broken heart? 62
35233876 2022
44
Congenital atrioventricular heart block: From diagnosis to treatment. 62
36062654 2022
45
A Case Series of Concomitant Cardiac Electrical Disease among Takotsubo Syndrome Patients and Literature Review. 62
35323627 2022
46
Histological finding of maternal antibody-associated congenital heart block accompanied by large atrial septal defect and severe cardiac dysfunction. 62
35351221 2022
47
Prenatal predisposing factors associated with neonatal lupus erythematosus. 62
34978218 2022
48
Pregnancy outcomes of a joint obstetric and rheumatology clinic in a tertiary centre: a 2-year retrospective study of 98 pregnancies. 62
35474882 2022
49
Systemic erythematosus lupus and pregnancy outcomes in a Colombian cohort. 62
34874750 2021
50
Congenital Heart Block. 62
34689896 2021

Variations for Heart Block, Congenital

Expression for Heart Block, Congenital

Search GEO for disease gene expression data for Heart Block, Congenital.

Pathways for Heart Block, Congenital

GO Terms for Heart Block, Congenital

Sources for Heart Block, Congenital

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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