MCID: CNG018
MIFTS: 52

Congenital Heart Block malady

Cardiovascular diseases category

Summaries for Congenital Heart Block

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46OMIM, 32MalaCards
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MalaCards: Congenital Heart Block, also known as atrioventricular block, is related to lupus erythematosus and long qt syndrome. An important gene associated with Congenital Heart Block is CALR (calreticulin), and among its related pathways is Antiarrhythmic Pathway, Pharmacodynamics. The compounds Tenecteplase and pilocarpine have been mentioned in the context of this disorder. Affiliated tissues include heart, atrioventricular node and pancreas, and related mouse phenotypes are cellular and homeostasis/metabolism.

Description from OMIM:46 234700

Aliases & Classifications for Congenital Heart Block

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 60UMLS, 34MeSH, 56SNOMED-CT, 27ICD9CM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Cardiovascular diseases


Characteristics (Orphanet epidemiological data):

48
congenital heart block:
Inheritance: Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

congenital heart block 8 42 10 44 48 46 60
atrioventricular block 8 60
congenital atrioventricular block 48
heart block congenital 42


External Ids:

Disease Ontology8 DOID:990
OMIM46 234700
MeSH34 C535758
ICD9CM27 746.86
MESH via Orphanet35 C535758
ICD10 via Orphanet26 Q24.6
SNOMED-CT via Orphanet57 46619002
UMLS via Orphanet61 C0149530
ICD1025 Q24.6

Related Diseases for Congenital Heart Block

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17GeneCards, 18GeneDecks
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Diseases in the Heart Block, Progressive, Type Ia family:

congenital heart block Progressive Familial Heart Block Type 1a
Progressive Familial Heart Block Type 1b Progressive Familial Heart Block Type 2

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

(show top 50)    (show all 100)
idRelated DiseaseScoreTop Affiliating Genes
1lupus erythematosus31.0TRIM21, TROVE2, SNRNP70, TLR7, CALR
2long qt syndrome30.8COLQ, KCNE1, KCNE2, SCN4B
3systemic lupus erythematosus30.8CALR, TLR7, SNRNP70, SSB, TROVE2, TRIM21
4connective tissue disease30.7COLQ, CALR, ENO1
5congenital heart defect30.2KCNE1, KCNE2, SRF, TGIF1
6mixed connective tissue disease30.0SNRNP70
7rheumatoid arthritis30.0CALR, TRIM21, SRF, ENO1, TGIF1
8myocardial infarction10.7
9acute myocardial infarction10.6
10mobitz type ii atrioventricular block10.6
11inferior myocardial infarction10.6
12sarcoidosis10.6
13cardiac sarcoidosis10.6
14sick sinus syndrome10.5
15acute myocarditis10.5
16right bundle branch block10.4
17kearns-sayre syndrome10.4
18atrioventricular septal defect10.4
19myopathy10.4
20restrictive cardiomyopathy10.4
21atrioventricular block10.3
22dilated cardiomyopathy10.3
23congenital hypothyroidism10.3
24hypothyroidism10.3
25hypertrophic cardiomyopathy10.3
26muscular dystrophy10.3
27myocarditis10.2
28aortitis10.2
29infective endocarditis10.2
30rheumatic fever10.0
31cutaneous lupus erythematosus10.0
32dextrocardia10.0
33splenic infarction10.0
34endocardial fibroelastosis10.0
35autoimmune hepatitis10.0
36arthritis10.0
37atrial heart septal defect10.0
38endocarditis10.0
39heart septal defect10.0
40hepatitis10.0
41hypertension10.0
42pericardial effusion10.0
43purpura10.0
44ventricular septal defect10.0
45cardiac tamponade10.0
46mitral valve prolapse10.0
47non-hodgkin lymphoma10.0
48alcohol abuse10.0
49supravalvular aortic stenosis10.0
50gastric dilatation10.0

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



Diseases related to congenital heart block

Clinical Features for Congenital Heart Block

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46OMIM
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Clinical features from OMIM:

234700

Clinical synopsis from OMIM:

234700

Drugs & Therapeutics for Congenital Heart Block

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Congenital Heart Block

Drug clinical trials:

Search ClinicalTrials for Congenital Heart Block

Search NIH Clinical Center for Congenital Heart Block

Search CenterWatch for Congenital Heart Block

Genetic Tests for Congenital Heart Block

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Anatomical Context for Congenital Heart Block

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Sources:
30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Congenital Heart Block:

32
Heart, Atrioventricular node, Pancreas, T cells

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Congenital Heart Block:
id TissueAnatomical CompartmentCell Relevance
1 HeartAtrioventricular NodeAtrioventricular Node Cells Affected by disease

Animal Models for Congenital Heart Block or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Congenital Heart Block:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053849.0JMJD6, TGIF1, SRF, PLAUR, TRIM21, TLR7
2MP:00053768.6SRF, PLAUR, TRIM21, CHRM1, TLR7, CALR
3MP:00107688.5TGIF1, COLQ, JMJD6, NLE1, CALR, TLR7

Publications for Congenital Heart Block

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50PubMed
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Articles related to Congenital Heart Block:

(show top 50)    (show all 284)
idTitleAuthorsYear
1
Neonatal lupus erythematosus complicated by improved congenital complete heart block. (23910804)
2013
2
Anti-Ro52 monoclonal antibodies specific for amino acid 200-239, but not other Ro52 epitopes, induce congenital heart block in a rat model. (22084395)
2012
3
Extracorporeal membrane oxygenation support for intractable primary arrhythmias and complete congenital heart block in newborns and infants: short-term and medium-term outcomes. (21516054)
2012
4
Role of calcium channels in congenital heart block. (20696020)
2010
5
Cutaneous manifestations of neonatal lupus and risk of subsequent congenital heart block. (20131261)
2010
6
Maternal MHC regulates generation of pathogenic antibodies and fetal MHC-encoded genes determine susceptibility in congenital heart block. (20696861)
2010
7
When the levee doesn't break: a novel role of beta2-glycoprotein I to protect against congenital heart block. (19248093)
2009
8
Congenital heart block associated with SjAPgren syndrome: case report. (19638228)
2009
9
The cerebroplacental Doppler ratio predicts postnatal outcome in fetuses with congenital heart block. (18704034)
2008
10
Utility of cardiac monitoring in fetuses at risk for congenital heart block: the PR Interval and Dexamethasone Evaluation (PRIDE) prospective study. (18195175)
2008
11
Epidemiology, etiology, detection, and treatment of autoantibody-associated congenital heart block in neonatal lupus. (17502039)
2007
12
Predicting autoimmune congenital heart block: is it feasible and how? (17626028)
2007
13
Prenatal diagnosis of complete heart block and congenitally corrected transposition of the great arteries. (17710356)
2007
14
Neurological outcome in isolated congenital heart block and hydrops fetalis. (17652937)
2007
15
Congenital heart block: clinical features and therapeutic approaches. (17711901)
2007
16
Dual-chamber epicardial pacing in neonates with congenital heart block. (17976448)
2007
17
Juvenile-onset hypergammaglobulinemic purpura and fetal congenital heart block. (17040503)
2006
18
Anti-SSA/Ro-related congenital heart block in two family members of different generations: Comment on the article by Clancy et al. (15880834)
2005
19
Congenital heart block associated with a maternal anti-HsEg5-like autoantibody. (15695294)
2005
20
Autoantibody-associated congenital heart block: TGFbeta and the road to scar. (15652772)
2005
21
Autoimmune-associated congenital heart block: dissecting the cascade from immunologic insult to relentless fibrosis. (15368347)
2004
22
Cloning and characterization of two human Ro52-specific monoclonal autoantibodies directed towards a domain associated with congenital heart block. (14987746)
2004
23
New lead for in utero pacing for fetal congenital heart block. (12878975)
2003
24
Neonatal cutaneous lupus and congenital heart block: it's not all antibodies. (14630436)
2003
25
Cardiac 5-HT(4) serotoninergic receptors, 52kD SSA/Ro and autoimmune-associated congenital heart block. (12367562)
2002
26
Direct inhibition of expressed cardiac l- and t-type calcium channels by igg from mothers whose children have congenital heart block. (11257091)
2001
27
Role of HLA in congenital heart block: susceptibility alleles in mothers. (10025599)
1999
28
Fetal treatment of congenital heart block ascribed to anti-SSA antibody: case reports with observation of cardiohemodynamics and review of the literature. (10580604)
1999
29
Induction of antibodies reactive with SSA/Ro-SSB/La and development of congenital heart block in a murine model. (9834068)
1998
30
Outcome of isolated congenital heart block diagnosed in utero. (9290412)
1997
31
Anti-La (SS-B) but not anti-Ro52 (SS-A) antibodies cross-react with laminin--a role in the pathogenesis of congenital heart block? (7882552)
1995
32
Intrapartum fetal surveillance of congenital heart block with pulse oximetry. (9205448)
1994
33
Circulating antibodies against neurotransmitter receptor activities in children with congenital heart block and their mothers. (7958624)
1994
34
Antibodies against beta adrenoceptors in mothers of children with congenital heart block. (7663019)
1994
35
Autoantibodies to SS-A/RO in an infant with congenital heart block. (8125600)
1993
36
Usefulness of the signal-averaged electrocardiogram for evaluating the block site of right bundle branch block following surgical correction of a congenital heart disease. (8315815)
1993
37
Complete congenital heart block followed by anti-Ro/SSA in adult life. Studies of an informative family. (3261539)
1988
38
Complete congenital heart block: a case study. (3643413)
1987
39
Congenital heart block, systemic lupus erythematosus, and anti-Ro antibodies. (4038362)
1985
40
Maternal connective tissue disease and congenital heart block. (3990733)
1985
41
Perinatal diagnosis of complete congenital heart block: four cases. (6730649)
1984
42
Congenital heart block. (6961627)
1982
43
De Subitaneis Mortibus. XXI. Adult onset syncope. with comments on the nature of congenital heart block and the morphogenesis of the human atrioventricular septal junction. (991400)
1976
44
Congenital heart block diagnosed antenally associated with multiple fetal abnormality. (1192015)
1975
45
Occlusion of the atrioventricular nodal artery in congenital heart block. (4269710)
1973
46
Low estriol excretion in congenital heart block. (5805549)
1969
47
Congenital heart block due to endocardial fibroelastosis interpreted as foetal distress. (13502804)
1957
48
Congenital heart block; report of a case diagnosed antenatally. (13295968)
1956
49
Congenital heart block; report of a case. (12980846)
1952
50
CONGENITAL HEART BLOCK WITH DEXTROCARDIA. (18609923)
1943

Genetic Variations for Congenital Heart Block

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Expression for genes affiliated with Congenital Heart Block

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Heart Block

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

Pathways for genes affiliated with Congenital Heart Block

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49PharmGKB
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Pathways related to Congenital Heart Block according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0SCN4B, KCNE2, KCNE1

Compounds for genes affiliated with Congenital Heart Block

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11DrugBank, 44Novoseek, 28IUPHAR, 24HMDB
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Compounds related to Congenital Heart Block according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1Tenecteplase1110.2CALR, PLAUR
2pilocarpine44 28 1112.1SRF, CHRM1
3heparin44 28 11 2412.9COLQ, CALR, SRF, TGIF1
4nitric oxide44 11 2411.7KCNE1, CALR, CHRM1, PLAUR, SRF, TGIF1
5arginine449.7KCNE1, CALR, CHRM1, PLAUR, SRF, ENO1
6zinc44 2410.6TGIF1, CA5B, CALR, TROVE2, TRIM21, PLAUR
7oxygen44 2410.5CALR, BLVRA, PLAUR, SRF, ENO1, TGIF1
8lipid449.4JMJD6, KCNE1, CALR, CHRM1, PLAUR, SRF
9oligonucleotide449.4CALR, TRIM21, PLAUR, SRF, TGIF1
10retinoic acid44 2410.4TGIF1, ENO1, LAMB1, SRF, PLAUR, CALR
11serine449.2KCNE1, CALR, SNRNP70, BLVRA, PLAUR, SRF

GO Terms for genes affiliated with Congenital Heart Block

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16Gene Ontology
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Cellular components related to Congenital Heart Block according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:0099869.9PLAUR, CALR, KCNE2, KCNE1
2ribonucleoprotein complexGO:0305299.7TRIM21, TROVE2, SSB

Biological processes related to Congenital Heart Block according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1regulation of delayed rectifier potassium channel activityGO:190225910.3KCNE2, KCNE1
2membrane repolarizationGO:08600910.3KCNE1, KCNE2
3membrane repolarization involved in regulation of action potentialGO:08601110.3KCNE2, KCNE1
4regulation of cardiac muscle cell action potential involved in contractionGO:08600210.2SCN4B, KCNE2, KCNE1
5regulation of ventricular cardiac muscle cell membrane repolarizationGO:06030710.2SCN4B, KCNE2, KCNE1
6regulation of potassium ion transmembrane transportGO:190137910.2KCNE2, KCNE1
7regulation of heart rate by cardiac conductionGO:08609110.2KCNE1, KCNE2, SCN4B
8potassium ion exportGO:07143510.2KCNE1, KCNE2
9cellular senescenceGO:09039810.2SRF, CALR
10erythrocyte developmentGO:04882110.0SRF, JMJD6
11regulation of ventricular cardiac muscle cell action potentialGO:0860059.9KCNE2, KCNE1

Molecular functions related to Congenital Heart Block according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarizationGO:190228210.2KCNE2, KCNE1

Products for genes affiliated with Congenital Heart Block

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Heart Block

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet