MCID: HRT035
MIFTS: 42

Heart Block, Congenital

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Heart Block, Congenital

MalaCards integrated aliases for Heart Block, Congenital:

Name: Heart Block, Congenital 57
Congenital Heart Block 12 73 20 58 29 54 44 15 70 32
Congenital Atrioventricular Block 58
Heart Block Congenital 20

Characteristics:

Orphanet epidemiological data:

58
congenital heart block
Inheritance: Not applicable; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
? autosomal recessive


HPO:

31
heart block, congenital:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:990
OMIM® 57 234700
ICD9CM 34 746.86
MeSH 44 C535758
SNOMED-CT 67 156924006
ICD10 32 Q24.6
MESH via Orphanet 45 C535758
ICD10 via Orphanet 33 Q24.6
UMLS via Orphanet 71 C0149530 C3884338
Orphanet 58 ORPHA60041
MedGen 41 C0149530
UMLS 70 C0149530

Summaries for Heart Block, Congenital

GARD : 20 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. The condition is generally treated with a pacemaker. Some cases may benefit from prenatal administration of steroids.

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

Disease Ontology : 12 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 : 73 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 141)
# Related Disease Score Top Affiliating Genes
1 atrioventricular block 31.3 TRIM21 SSB RO60
2 neonatal lupus erythematosus 30.7 TRIM21 SPTAN1
3 endocardial fibroelastosis 30.7 TRIM21 SSB RO60
4 lupus erythematosus 30.5 TRIM21 SSB SNRNP70 RO60 CALR APOH
5 second-degree atrioventricular block 30.2 TRIM21 SSB CACNA1D
6 third-degree atrioventricular block 30.2 TRIM21 SSB CACNA1D
7 connective tissue disease 30.0 TNFSF13B SSB SNRNP70 H2AC18 CALR APOH
8 autoimmune disease 30.0 TRIM21 TNFSF13B RO60 FCGRT CALR APOH
9 cutaneous lupus erythematosus 29.8 TRIM21 TNFSF13B RO60
10 systemic scleroderma 29.8 TRIM21 SNRNP70 RO60 H2AC18
11 collagen disease 29.7 TRIM21 SNRNP70 H2AC18 APOH
12 mixed connective tissue disease 29.6 TNFSF13B SNRNP70 APOH
13 systemic lupus erythematosus 29.0 TRIM21 TNFSF13B TLR7 SSB SNRNP70 RO60
14 thrombocytopenia 29.0 TRIM21 TNFSF13B TLR7 CALR APOH
15 sjogren syndrome 28.9 TRIM21 TNFSF13B SSB SPTAN1 RO60 CALR
16 exanthem 10.4
17 hydrops fetalis, nonimmune 10.3
18 lymphatic malformation 7 10.3
19 myocarditis 10.3
20 dilated cardiomyopathy 10.3
21 diffuse infiltrative lymphocytosis syndrome 10.3 TRIM21 SSB
22 mononeuritis of upper limb and mononeuritis multiplex 10.3 TRIM21 SSB
23 pulmonary embolism and infarction 10.3 TRIM21 RO60
24 mononeuritis multiplex 10.3 TRIM21 SSB
25 adie pupil 10.3 TRIM21 TNFRSF25
26 hemopericardium 10.3
27 pericardial effusion 10.3
28 parotitis 10.3 TRIM21 SSB
29 diffuse scleroderma 10.2 TRIM21 SNRNP70
30 mononeuropathy 10.2 TRIM21 SSB
31 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
32 double discordia 10.2
33 childhood type dermatomyositis 10.2 TRIM21 SNRNP70
34 crest syndrome 10.2 SNRNP70 H2AC18
35 dyskinesia of esophagus 10.2 TRIM21 SSB SNRNP70
36 raynaud disease 10.2 TRIM21 SSB SNRNP70
37 congestive heart failure 10.2
38 parotid disease 10.2 TRIM21 TNFRSF25 SSB
39 telangiectasis 10.1 TRIM21 SNRNP70 H2AC18
40 lymphoid interstitial pneumonia 10.1 TRIM21 SSB H2AC18
41 hypersensitivity reaction type iv disease 10.1 TRIM21 TNFRSF25 H2AC18
42 atrioventricular dissociation 10.1
43 hypothyroidism 10.1
44 heart septal defect 10.1
45 48,xyyy 10.1
46 syncope 10.1
47 chromosomal disease 10.1 TRIM21 SSB H2AC18
48 brachydactyly, type d 10.1 H2AC18 FCGRT
49 patent ductus arteriosus 1 10.1
50 polyclonal hypergammaglobulinemia 10.0 TRIM21 TNFSF13B SSB

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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 mitral regurgitation 31 HP:0001653
2 cardiomyopathy 31 HP:0001638
3 myocardial fibrosis 31 HP:0001685
4 atrial arrhythmia 31 HP:0001692
5 myocardial calcification 31 HP:0006690
6 absent atrioventricular node 31 HP:0006681

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiac:
mitral regurgitation
cardiomyopathy
myocardial fibrosis
atrial arrhythmia
myocardial calcification
more

Clinical features from OMIM®:

234700 (Updated 05-Apr-2021)

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 Immunoglobulins Phase 2
3 Antibodies Phase 2
4 Immunoglobulins, Intravenous Phase 2
5 Autoantibodies Phase 2
6 Antimalarials Phase 2
7 Antirheumatic Agents Phase 2
8 Antiparasitic Agents Phase 2
9 Anti-Infective Agents Phase 2
10 Antiprotozoal Agents Phase 2
11
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3
12
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
13 Immunologic Factors Early Phase 1
14 gamma-Globulins Early Phase 1
15 Rho(D) Immune Globulin Early Phase 1
16 Gastrointestinal Agents
17 Antiemetics
18 glucocorticoids
19 Antineoplastic Agents, Hormonal
20 Hormone Antagonists
21 Hormones
22 Anti-Inflammatory Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Preventive Approach to Congenital Heart Block With Hydroxychloroquine Completed NCT01379573 Phase 2 Hydroxychloroquine
2 Identification of Genetic Basis of Atrioventricular Conduction Defects: From Congenital Forms to Degenerative Forms Unknown status NCT02881671
3 Preventive IVIG Therapy for Congenital Heart Block (The PITCH Study) Completed NCT00460928 Early Phase 1 intravenous immune globulin (IVIG)
4 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

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 29

Anatomical Context for Heart Block, Congenital

MalaCards organs/tissues related to Heart Block, Congenital:

40
Heart, Atrioventricular Node, Liver, Skin, Cardiac Myocytes, Pancreas, Salivary Gland
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 815)
# Title Authors PMID Year
1
Complete congenital heart block is associated with increased autoantibody titers against calreticulin. 57 54 61
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. 57 61
8240435 1993
3
Family studies of congenital heart block associated with Ro antibody. 57 61
2803880 1989
4
Complete congenital heart block followed by anti-Ro/SSA in adult life. Studies of an informative family. 57 61
3261539 1988
5
Congenital heart block, systemic lupus erythematosus, and anti-Ro antibodies. 61 57
4038362 1985
6
Delayed maternal lupus after delivery of offspring with congenital heart block. 61 57
7149874 1982
7
Familial congenital heart block and hydrops fetalis. 61 57
7436490 1980
8
Congenital complete heart block in the newborn associated with maternal systemic lupus erythematosus and other connective tissue disorders. 61 57
420526 1979
9
Association of maternal systemic lupus erythematosus with congenital complete heart block. 57 61
917056 1977
10
Congenital heart block in newborns of mothers with connective tissue disease. 61 57
301070 1977
11
FAMILIAL CONGENITAL HEART BLOCK. 57 61
14147626 1964
12
ACQUIRED LESIONS OF THE CONDUCTION SYSTEM IN FAMILIAL CONGENITAL HEART BLOCK. 61 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. 61 54
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]. 54 61
19886247 2009
23
Ro52, Ro60 and La IgG autoantibody levels and Ro52 IgG subclass profiles longitudinally throughout pregnancy in congenital heart block risk pregnancies. 54 61
16830880 2006
24
Structurally derived mutations define congenital heart block-related epitopes within the 200-239 amino acid stretch of the Ro52 protein. 61 54
15683447 2005
25
Cloning and characterization of two human Ro52-specific monoclonal autoantibodies directed towards a domain associated with congenital heart block. 54 61
14987746 2004
26
SS-A/Ro52, an autoantigen involved in CD28-mediated IL-2 production. 54 61
12646630 2003
27
Successful outcome in a fetus with an extremely low heart rate due to isolated complete congenital heart block. 54 61
12601845 2003
28
Autoantibodies against neonatal heart M1 muscarinic acetylcholine receptor in children with congenital heart block. 61 54
11247640 2001
29
Sjögren autoantibodies modify neonatal cardiac function via M1 muscarinic acetylcholine receptor activation. 61 54
10402042 1999
30
Circulating antibodies against neonatal cardiac muscarinic acetylcholine receptor in patients with Sjögren's syndrome. 54 61
8974073 1996
31
Ro and La antigens and maternal anti-La idiotype on the surface of myocardial fibres in congenital heart block. 61 54
2031658 1991
32
Possible association between anti-Ro antibodies and myocarditis or cardiac conduction defects in adults with systemic lupus erythematosus. 61 54
2396870 1990
33
Pregnancy control in patients with systemic lupus erythematosus/antiphospholipid syndrome. Part 2: Pregnancy follow-up. 61
31780250 2021
34
First trimester combined screening test for aneuploidies in anti-Ro carriers pregnant women. 61
33559011 2021
35
Natural killer cells and type II interferon in Ro/SSA and La/SSB autoantibody-exposed newborns at risk of congenital heart block. 61
33004330 2021
36
Pulmonary hypertension associated with congenital heart block and neonatal lupus syndrome: A series of four cases. 61
33198562 2021
37
Successful 2-Stage Pacemaker Implantation for Atrioventricular Block in a Low-Birth-Weight Infant with Congenital Heart Disease: Case Report. 61
33635254 2021
38
False Asystole Alarms Post-Temporary Pacemaker Placement Due to Pseudo-fusion. 61
33247766 2021
39
Umbilical and Middle Cerebral Artery Doppler Measurements in Fetuses With Congenital Heart Block. 61
33127209 2021
40
Longitudinal Analysis of Fetal Ventricular Rate for Risk Stratification in Immune Congenital Heart Block. 61
33296896 2021
41
Interferons and innate immune activation in autoimmune congenital heart block. 61
33188653 2021
42
Neonatal lupus erythematosus - practical guidelines. 61
33470961 2021
43
Maternal and Fetal Outcomes in Systemic Lupus Erythematosus Pregnancies. 61
33463654 2020
44
Long-term physical and neurodevelopmental outcomes after antenatal betamethasone administration for congenital heart block prevention. 61
33207991 2020
45
Elective Inguinal Hernia Surgery in the Setting of Unfollowed Congenital Complete Heart Block With No Postponement. 61
33178518 2020
46
Electrocardiographic QT Intervals in Infants Exposed to Hydroxychloroquine Throughout Gestation. 61
32907357 2020
47
Clinical Features, Autoantibodies, and Outcome of Neonatal Lupus Erythematosus. 61
33103534 2020
48
Effects of maternal medication on long-term outcome in congenital heart block remain to be established. Response to: 'Comorbidity and long-term outcome in patients with congenital heart block and their siblings exposed to Ro/SSA autoantibodies in utero' by Satis et al. 61
31272943 2020
49
Comorbidity and long-term outcome in patients with congenital heart block and their siblings exposed to Ro/SSA autoantibodies in utero. 61
31088791 2020
50
Congenital heart block: Pace earlier (Childhood) than later (Adulthood). 61
31262557 2020

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

Cellular components related to Heart Block, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribonucleoprotein complex GO:1990904 8.8 TRIM21 SSB RO60

Sources for Heart Block, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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