MCID: HRT035
MIFTS: 44

Heart Block, Congenital

Categories: 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 56
Congenital Heart Block 12 52 58 29 54 43 15 71 32
Congenital Atrioventricular Block 58
Heart Block Congenital 52

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Inheritance:
? autosomal recessive


HPO:

31
heart block, congenital:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:990
OMIM 56 234700
ICD9CM 34 746.86
MeSH 43 C535758
SNOMED-CT 67 46619002
ICD10 32 Q24.6
MESH via Orphanet 44 C535758
ICD10 via Orphanet 33 Q24.6
UMLS via Orphanet 72 C0149530 C3884338
Orphanet 58 ORPHA60041
MedGen 41 C0149530
UMLS 71 C0149530

Summaries for Heart Block, Congenital

NIH Rare Diseases : 52 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 autoimmune disease. 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 cardiomyopathy and mitral regurgitation

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.

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 122)
# Related Disease Score Top Affiliating Genes
1 atrioventricular block 30.2 TRIM21 SSB RO60
2 autoimmune disease 30.0 TRIM21 RO60 FCGRT CALR APOH
3 rheumatic disease 29.9 TRIM21 SSB H2AC18 APOH
4 endocardial fibroelastosis 29.8 TRIM21 TAZ SSB
5 third-degree atrioventricular block 29.8 TRIM21 SSB CACNA1D
6 sjogren syndrome 29.6 TRIM21 SSB RO60 CALR APOH
7 second-degree atrioventricular block 29.4 TRIM21 TAZ SSB CACNA1D
8 collagen disease 29.3 TRIM21 SSB SNRNP70 RO60 H2AC18
9 connective tissue disease 29.3 SSB SNRNP70 H2AC18 CALR APOH
10 systemic scleroderma 29.3 TRIM21 SSB SNRNP70 RO60 H2AC18
11 lupus erythematosus 28.8 TRIM21 SSB SNRNP70 RO60 CALR APOH
12 systemic lupus erythematosus 28.4 TRIM21 SSB SNRNP70 RO60 H2AC18 CALR
13 obsolete: non-progressive congenital heart block 12.4
14 mononeuritis of upper limb and mononeuritis multiplex 10.4 TRIM21 SSB
15 mononeuritis multiplex 10.3 TRIM21 SSB
16 parotid disease 10.3 TRIM21 SSB
17 parotitis 10.3 TRIM21 SSB
18 diffuse scleroderma 10.3 TRIM21 SNRNP70
19 polyclonal hypergammaglobulinemia 10.3 TRIM21 SSB
20 exanthem 10.3
21 hydrops fetalis, nonimmune 10.2
22 myocarditis 10.2
23 xerophthalmia 10.2 TRIM21 SSB RO60
24 dyskinesia of esophagus 10.2 TRIM21 SNRNP70
25 keratoconjunctivitis sicca 10.2 TRIM21 SSB RO60
26 dilated cardiomyopathy 10.2
27 sialadenitis 10.2 TRIM21 SSB RO60
28 lacrimal apparatus disease 10.2 TRIM21 SSB RO60
29 childhood type dermatomyositis 10.2 TRIM21 SNRNP70 RO60
30 crest syndrome 10.2 SNRNP70 H2AC18
31 raynaud disease 10.2 TRIM21 SNRNP70
32 limited scleroderma 10.2 TRIM21 SSB SNRNP70
33 salivary gland disease 10.2 TRIM21 SSB H2AC18
34 hemopericardium 10.2
35 pericardial effusion 10.2
36 telangiectasis 10.1 TRIM21 SNRNP70 H2AC18
37 double discordia 10.1
38 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
39 endocarditis 10.1
40 patent ductus arteriosus 1 10.1
41 pericardium disease 10.0 TRIM21 SNRNP70
42 atrioventricular dissociation 10.0
43 hypothyroidism 10.0
44 congestive heart failure 10.0
45 dextrocardia 10.0
46 syncope 10.0
47 rheumatic fever 9.9
48 thrombocytopenia 9.9
49 tricuspid valve insufficiency 9.9
50 48,xyyy 9.9

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 cardiomyopathy 31 HP:0001638
2 mitral regurgitation 31 HP:0001653
3 myocardial fibrosis 31 HP:0001685
4 atrial arrhythmia 31 HP:0001692
5 absent atrioventricular node 31 HP:0006681
6 myocardial calcification 31 HP:0006690

Symptoms via clinical synopsis from OMIM:

56
Cardiac:
cardiomyopathy
mitral regurgitation
myocardial fibrosis
atrial arrhythmia
absent atrioventricular node
more

Clinical features from OMIM:

234700

GenomeRNAi Phenotypes related to Heart Block, Congenital according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased influenza A/WSN/33 replication GR00195-A-1 8.92 CHRM1 NLE1 SNRNP70 TRIM21

Drugs & Therapeutics for Heart Block, Congenital

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

(show all 27)
# 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 Autoantibodies Phase 2
5 Anti-Infective Agents Phase 2
6 Antiparasitic Agents Phase 2
7 Antiprotozoal Agents Phase 2
8 Antimalarials Phase 2
9 Antirheumatic Agents Phase 2
10
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
11
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3
12 Immunologic Factors Early Phase 1
13 Rho(D) Immune Globulin Early Phase 1
14 gamma-Globulins Early Phase 1
15 Immunoglobulins, Intravenous Early Phase 1
16 Immunoglobulin G Early Phase 1
17 Antiemetics
18 BB 1101
19
protease inhibitors
20 Gastrointestinal Agents
21 Hormone Antagonists
22 Anti-Inflammatory Agents
23 HIV Protease Inhibitors
24 Autonomic Agents
25 Antineoplastic Agents, Hormonal
26 glucocorticoids
27 Hormones

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Preventive Approach to Congenital Heart Block With Hydroxychloroquine Recruiting NCT01379573 Phase 2 Hydroxychloroquine
2 Effects of Chronic Right Ventricular Pacing in Children With Advanced Atrioventricular Block Unknown status NCT01477658
3 Identification of Genetic Basis of Atrioventricular Conduction Defects: From Congenital Forms to Degenerative Forms Unknown status NCT02881671
4 Preventive IVIG Therapy for Congenital Heart Block (The PITCH Study) Completed NCT00460928 Early Phase 1 intravenous immune globulin (IVIG)
5 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
6 Evaluation Of Performance & Complications of Pacemakers in Children Not yet recruiting NCT04163770
7 A Single Center, Retrospective Study of the Safety and Feasibility of Epicardial Biventricular Pacing in the Pediatric Population Terminated NCT00267423

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, T Cells, Testes, Skin, B Cells
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 792)
# Title Authors PMID Year
1
Complete congenital heart block is associated with increased autoantibody titers against calreticulin. 54 61 56
8904349 1996
2
Family studies of congenital heart block associated with Ro antibody. 61 56
2803880 1989
3
Complete congenital heart block followed by anti-Ro/SSA in adult life. Studies of an informative family. 61 56
3261539 1988
4
Delayed maternal lupus after delivery of offspring with congenital heart block. 61 56
7149874 1982
5
Familial congenital heart block and hydrops fetalis. 61 56
7436490 1980
6
Congenital complete heart block in the newborn associated with maternal systemic lupus erythematosus and other connective tissue disorders. 61 56
420526 1979
7
Association of maternal systemic lupus erythematosus with congenital complete heart block. 61 56
917056 1977
8
Congenital heart block in newborns of mothers with connective tissue disease. 61 56
301070 1977
9
FAMILIAL CONGENITAL HEART BLOCK. 61 56
14147626 1964
10
ACQUIRED LESIONS OF THE CONDUCTION SYSTEM IN FAMILIAL CONGENITAL HEART BLOCK. 61 56
14127025 1964
11
Congenital complete heart block in children of mothers with primary Sjögren's syndrome. 56
1360080 1992
12
Molecular analysis of the 60-kDa human Ro ribonucleoprotein. 56
3200833 1988
13
De subitaneis mortibus. X. Familial congential heart block. 56
1112019 1975
14
A syndrome of congenital cardiomyopathy with mitral regurgitation, complete heart block and atrial arrhythmia. 56
4812082 1974
15
Familial heart block and sinus bradycardia. Classification and natural history. 56
5016825 1972
16
Familial congenital complete heart block. Its occurrence in 2 children with another genetically determined anomaly. 56
13764564 1961
17
Congenital complete A-V block in three siblings. 56
13842632 1960
18
Failure of intravenous immunoglobulin to prevent congenital heart block: Findings of a multicenter, prospective, observational study. 54 61
20131278 2010
19
[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
20
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
21
Structurally derived mutations define congenital heart block-related epitopes within the 200-239 amino acid stretch of the Ro52 protein. 54 61
15683447 2005
22
Cloning and characterization of two human Ro52-specific monoclonal autoantibodies directed towards a domain associated with congenital heart block. 54 61
14987746 2004
23
SS-A/Ro52, an autoantigen involved in CD28-mediated IL-2 production. 54 61
12646630 2003
24
Successful outcome in a fetus with an extremely low heart rate due to isolated complete congenital heart block. 54 61
12601845 2003
25
Autoantibodies against neonatal heart M1 muscarinic acetylcholine receptor in children with congenital heart block. 54 61
11247640 2001
26
Sjögren autoantibodies modify neonatal cardiac function via M1 muscarinic acetylcholine receptor activation. 54 61
10402042 1999
27
Circulating antibodies against neonatal cardiac muscarinic acetylcholine receptor in patients with Sjögren's syndrome. 54 61
8974073 1996
28
Ro and La antigens and maternal anti-La idiotype on the surface of myocardial fibres in congenital heart block. 54 61
2031658 1991
29
Possible association between anti-Ro antibodies and myocarditis or cardiac conduction defects in adults with systemic lupus erythematosus. 54 61
2396870 1990
30
Geoepidemiology and clinical characteristics of neonatal lupus erythematosus: A Systematic Literature Review of individual patients? data. 61
31905489 2020
31
Umbilical artery catheter, aortic dissection, carotid cannulation, and pseudoaneurysm in a neonate: A tale of propagating pathology. 61
32030043 2020
32
Type I IFN system activation in newborns exposed to Ro/SSA and La/SSB autoantibodies in utero. 61
31958275 2020
33
Pregnancy outcomes in mixed connective tissue disease: a multicentre study. 61
31079145 2019
34
Pregnancy Control in Patients with Systemic Lupus Erythematosus/Antiphospholipid Syndrome: Part 2: Pregnancy Follow-Up. 61
31780250 2019
35
Long-term follow-up of epicardial pacing and LV dysfunction in children with congenital heart block (Commentary). 61
31786290 2019
36
Long-Term Follow-up of Epicardial Pacing and Left Ventricular Dysfunction in Children With Congenital Heart Block. 61
31715154 2019
37
Use of antenatal fluorinated corticosteroids in management of congenital heart block: Systematic review and meta-analysis. 61
31517303 2019
38
Cell atlas of the fetal human heart and implications for autoimmune-mediated congenital heart block. 61
31589297 2019
39
Pregnancy and Systemic Lupus Erythematosus. 61
31677989 2019
40
Therapeutic apheresis during pregnancy: A single center experience. 61
31522920 2019
41
Autoimmune-mediated congenital heart block. 61
31685414 2019
42
[Cardiac Strangulation Induced by Epicardial Pacemaker Leads Causing Heart Failure;Report of a Case]. 61
31506415 2019
43
Minimally invasive technique of placing a dual chamber permanent pacemaker in children. 61
31431764 2019
44
Cesarean delivery in congenital heart block and need of temporary pacing: A case report. 61
31333389 2019
45
Live better electrically? Optimizing the timing and application of pacing in congenital heart block. 61
31395307 2019
46
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 2019
47
Benefits of fetal echocardiographic surveillance in pregnancies at risk of congenital heart block: single-center study of 212 anti-Ro52-positive pregnancies. 61
30620419 2019
48
Congenital heart block: Pace earlier (Childhood) than later (Adulthood). 61
31262557 2019
49
Comorbidity and long-term outcome in patients with congenital heart block and their siblings exposed to Ro/SSA autoantibodies in utero. 61
31088791 2019
50
Comorbidity and long-term outcome in patients with congenital heart block and their siblings exposed to Ro/SSA autoantibodies in utero. 61
30808622 2019

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

Molecular functions related to Heart Block, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.43 TRIM21 SSB SNRNP70 RO60 DDX41 CALR
2 mRNA binding GO:0003729 8.8 SSB SNRNP70 CALR

Sources for Heart Block, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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