MCID: CNG018
MIFTS: 52

Congenital Heart Block malady

Cardiovascular diseases category

Summaries for Congenital Heart Block

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

About this section
Sources:
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
See all sources

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

234700

Clinical synopsis from OMIM:

234700

Drugs & Therapeutics for Congenital Heart Block

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section

Anatomical Context for Congenital Heart Block

About this section
Sources:
30LifeMap Discovery™, 32MalaCards
See all sources

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

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Congenital Heart Block:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053849.0NLE1, CALR, TLR7, TROVE2, TRIM21, PLAUR
2MP:00053768.6CALR, KCNE2, KCNE1, JMJD6, TLR7, CHRM1
3MP:00107688.5TGIF1, COLQ, JMJD6, NLE1, CALR, TLR7

Publications for Congenital Heart Block

About this section
Sources:
50PubMed
See all sources

Articles related to Congenital Heart Block:

(show top 50)    (show all 284)
idTitleAuthorsYear
1
Molecular mechanisms of congenital heart block. (24434353)
2014
2
The predictive value of anti-SS-A antibodies titration in pregnant women with fetal congenital heart block. (22760476)
2013
3
Cardiac manifestations of neonatal lupus: a review of autoantibody-associated congenital heart block and its impact in an adult population. (22183063)
2012
4
Fetal myocarditis without congenital heart block. (21413045)
2011
5
Passively acquired anti-SSA/Ro antibodies are required for congenital heart block following ovodonation but maternal genes are not. (20499382)
2010
6
Evaluation of fetuses in a study of intravenous immunoglobulin as preventive therapy for congenital heart block: Results of a multicenter, prospective, open-label clinical trial. (20391423)
2010
7
Antibody reactivity to alpha-enolase in mothers of children with congenital heart block. (19208599)
2009
8
Congenital complete heart block and maternal connective tissue disease. (16815568)
2006
9
Ro52, Ro60 and La IgG autoantibody levels and Ro52 IgG subclass profiles longitudinally throughout pregnancy in congenital heart block risk pregnancies. (16830880)
2006
10
52-kDa Ro/SSA epitopes preferentially recognized by antibodies from mothers of children with neonatal lupus and congenital heart block. (16356190)
2006
11
Impaired clearance of apoptotic cardiocytes is linked to anti-SSA/Ro and -SSB/La antibodies in the pathogenesis of congenital heart block. (16906225)
2006
12
The pathology of the heart conduction system in congenital heart block. (17029919)
2006
13
Identification and management of fetuses at risk for, or affected by, congenital heart block associated with autoantibodies to SSA (Ro), SSB (La), or an HsEg5-like autoantigen. (16402218)
2006
14
Increased risk of complete congenital heart block in infants born to women with hypothyroidism and anti-Ro and/or anti-La antibodies. (16292791)
2006
15
Anti-SSA/Ro antibodies and the heart: more than complete congenital heart block? A review of electrocardiographic and myocardial abnormalities and of treatment options. (15743492)
2005
16
Autoimmune response in mothers of children with congenital and postnatally diagnosed isolated heart block: a population based study. (14705240)
2004
17
Autoantibody-associated congenital heart block: the clinical perspective. (12967520)
2003
18
Cytokine polymorphisms and histologic expression in autopsy studies: contribution of TNF-alpha and TGF-beta 1 to the pathogenesis of autoimmune-associated congenital heart block. (12960355)
2003
19
Concomitant disappearance of electrocardiographic abnormalities and of acquired maternal autoantibodies during the first year of life in infants who had QT interval prolongation and anti-SSA/Ro positivity without congenital heart block at birth. (12528128)
2003
20
Prevention of recurrence of congenital heart block with intravenous immunoglobulin and corticosteroid therapy: comment on the editorial by Buyon et al. (12528144)
2003
21
Congenital heart block in neonatal lupus: the pediatric cardiologist's perspective. (12139139)
2002
22
Successful prenatal treatment of congenital heart block with ritodrine administered transplacentally. (12410377)
2002
23
The rate of recurrence of isolated congenital heart block: a population-based study. (11229483)
2001
24
Complete congenital heart block: a review and case study. (10418435)
1999
25
Anti-Ro (SSA) and anti-La (SSB) antibodies and complete congenital heart block. (9255327)
1997
26
Management with a staged approach of the premature hydropic fetus due to complete congenital heart block. (9243231)
1997
27
Arrhythmogenicity of IgG and anti-52-kD SSA/Ro affinity-purified antibodies from mothers of children with congenital heart block. (9048655)
1997
28
Relationship between maternal and neonatal levels of antibodies to 48 kDa SSB(La), 52 kDa SSA(Ro), and 60 kDa SSA(Ro) in pregnancies complicated by congenital heart block. (7837164)
1994
29
In utero pacing for fetal congenital heart block. (8060513)
1994
30
Isolated congenital heart block. Long-term outcome of mothers and characterization of the immune response to SS-A/Ro and to SS-B/La. (8240435)
1993
31
Identification of mothers at risk for congenital heart block and other neonatal lupus syndromes in their children. Comparison of enzyme-linked immunosorbent assay and immunoblot for measurement of anti-SS-A/Ro and anti-SS-B/La antibodies. (8216420)
1993
32
Isolated congenital heart block: fetal and infant outcome and familial incidence of heart block. (8515908)
1993
33
Steroid therapy for hydrops associated with antibody-mediated congenital heart block. (1892179)
1991
34
Congenital heart block with hydrops fetalis treated with high-dose dexamethasone; a case report. (1765211)
1991
35
Simultaneous pulsed Doppler velocimetry of fetal aorta and inferior vena cava. Diagnosis of fetal congenital heart block; two case reports. (2178997)
1990
36
Family studies of congenital heart block associated with Ro antibody. (2803880)
1989
37
Isolated complete congenital heart block diagnosed prenatally in Down's syndrome; a case report. (2526759)
1989
38
Acquired congenital heart block. Pattern of maternal antibody response to biochemically defined antigens of the SSA/Ro-SSB/La system in neonatal lupus. (2760204)
1989
39
Cardiac immunoglobulin deposition in congenital heart block associated with maternal anti-Ro autoantibodies. (3314497)
1987
40
Congenital heart block and cardiac anomalies in the absence of maternal connective tissue disease. (3618667)
1987
41
Maternal systemic lupus erythematosus associated with fetal congenital heart block. A case report. (7256481)
1981
42
Rheumatoid arthritis in the mother of five siblings with congenital heart block. (683294)
1978
43
Congenital heart block in newborns of mothers with connective tissue disease. (301070)
1977
44
Electron microscopical study of myocardial biopsy material in congenital heart block. (1148053)
1975
45
Congenital heart block. A report of two cases. (5768559)
1969
46
Complete congenital heart block in an athlete. (6045115)
1967
47
CONGENITAL HEART BLOCK. (14317662)
1965
48
FAMILIAL CONGENITAL HEART BLOCK. (14147626)
1964
49
Antenatal diagnosis of congenital heart block. (13725048)
1960
50
Stokes-Adams syndrome associated with complete congenital heart block in infancy and childhood. (18908853)
1948

Genetic Variations for Congenital Heart Block

About this section

Expression for genes affiliated with Congenital Heart Block

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
49PharmGKB
See all sources

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

About this section
Sources:
11DrugBank, 44Novoseek, 28IUPHAR, 24HMDB
See all sources

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

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Heart Block

About this section
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