MCID: HRT035
MIFTS: 44

Heart Block, Congenital

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Heart Block, Congenital

MalaCards integrated aliases for Heart Block, Congenital:

Name: Heart Block, Congenital 57
Congenital Heart Block 12 53 59 29 55 44 15 72 33
Congenital Atrioventricular Block 59
Heart Block Congenital 53

Characteristics:

Orphanet epidemiological data:

59
congenital heart block
Inheritance: Not applicable; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
? autosomal recessive


HPO:

32
heart block, congenital:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:990
OMIM 57 234700
ICD9CM 35 746.86
MeSH 44 C535758
SNOMED-CT 68 46619002
ICD10 33 Q24.6
MESH via Orphanet 45 C535758
ICD10 via Orphanet 34 Q24.6
UMLS via Orphanet 73 C0149530 C3884338
Orphanet 59 ORPHA60041
MedGen 42 C0149530
UMLS 72 C0149530

Summaries for Heart Block, Congenital

NIH Rare Diseases : 53 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 obsolete: non-progressive congenital heart block and autoimmune disease. An important gene associated with Heart Block, Congenital is TRIM21 (Tripartite Motif Containing 21). The drugs Hydroxychloroquine and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include Heart, heart and atrioventricular node, 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 113)
# Related Disease Score Top Affiliating Genes
1 obsolete: non-progressive congenital heart block 12.4
2 autoimmune disease 10.5
3 exanthem 10.3
4 myocarditis 10.2
5 fetal edema 10.2
6 hydrops fetalis 10.2
7 diffuse scleroderma 10.2 TRIM21 TNFRSF25
8 dilated cardiomyopathy 10.2
9 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
10 hemopericardium 10.1
11 pericardial effusion 10.1
12 rheumatic disease 10.1
13 double discordia 10.1
14 endocardial fibroelastosis 10.1
15 punctate epithelial keratoconjunctivitis 10.1 TRIM21 TNFRSF25
16 sjogren syndrome 10.1
17 atrioventricular block 10.1
18 endocarditis 10.1
19 patent ductus arteriosus 1 10.0
20 transposition of the great arteries 10.0
21 adrenal cortical hypofunction 10.0 TOR1A TNFRSF25
22 atrioventricular dissociation 10.0
23 hypothyroidism 10.0
24 heart septal defect 10.0
25 congestive heart failure 10.0
26 connective tissue disease 10.0
27 syncope 10.0
28 autoimmune disease of skin and connective tissue 10.0 TOR1A TNFRSF25
29 immunoglobulin alpha deficiency 10.0 TOR1A TNFRSF25
30 second-degree atrioventricular block 9.9
31 third-degree atrioventricular block 9.9
32 rheumatic fever 9.9
33 thrombocytopenia 9.9
34 ventricular septal defect 9.9
35 tricuspid valve insufficiency 9.9
36 48,xyyy 9.9
37 undifferentiated connective tissue disease 9.9
38 neonatal lupus erythematosus 9.9
39 wolff-parkinson-white syndrome 9.9
40 right atrial isomerism 9.9
41 heterotaxy, visceral, 5, autosomal 9.9
42 sinoatrial node disease 9.9
43 heart disease 9.9
44 mitral valve insufficiency 9.9
45 biliary atresia 9.9
46 sick sinus syndrome 9.9
47 liver disease 9.9
48 situs inversus 9.9
49 premature aging 9.9
50 chilblain lupus 1 9.9 TRIM21 TNFRSF25

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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 cardiomyopathy 32 HP:0001638
2 mitral regurgitation 32 HP:0001653
3 myocardial fibrosis 32 HP:0001685
4 atrial arrhythmia 32 HP:0001692
5 absent atrioventricular node 32 HP:0006681
6 myocardial calcification 32 HP:0006690

Symptoms via clinical synopsis from OMIM:

57
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 Reduced mammosphere formation GR00396-S 8.92 CALR DDX41 SIGLEC1 TOR1A

Drugs & Therapeutics for Heart Block, Congenital

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

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxychloroquine Approved Phase 2 118-42-3 3652
2 Antibodies Phase 2
3 Immunoglobulins Phase 2
4 Autoantibodies Phase 2
5 Anti-Infective Agents Phase 2
6 Antiparasitic Agents Phase 2
7 Antimalarials Phase 2
8 Antiprotozoal Agents 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 Hormone Antagonists
18 Antiemetics
19 Hormones
20 glucocorticoids
21 HIV Protease Inhibitors
22 Anti-Inflammatory Agents
23 Gastrointestinal Agents
24 Peripheral Nervous System Agents
25 Antineoplastic Agents, Hormonal
26
protease inhibitors
27 BB 1101
28 Autonomic Agents
29 Hormones, Hormone Substitutes, and Hormone Antagonists

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 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:

41
Heart, Atrioventricular Node, Testes, Liver, Skin, B Cells, Cardiac Myocytes
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 780)
# Title Authors PMID Year
1
Complete congenital heart block is associated with increased autoantibody titers against calreticulin. 9 38 8
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. 38 8
8240435 1993
3
Family studies of congenital heart block associated with Ro antibody. 38 8
2803880 1989
4
Complete congenital heart block followed by anti-Ro/SSA in adult life. Studies of an informative family. 38 8
3261539 1988
5
Congenital heart block, systemic lupus erythematosus, and anti-Ro antibodies. 38 8
4038362 1985
6
Delayed maternal lupus after delivery of offspring with congenital heart block. 38 8
7149874 1982
7
Familial congenital heart block and hydrops fetalis. 38 8
7436490 1980
8
Congenital complete heart block in the newborn associated with maternal systemic lupus erythematosus and other connective tissue disorders. 38 8
420526 1979
9
Association of maternal systemic lupus erythematosus with congenital complete heart block. 38 8
917056 1977
10
Congenital heart block in newborns of mothers with connective tissue disease. 38 8
301070 1977
11
FAMILIAL CONGENITAL HEART BLOCK. 38 8
14147626 1964
12
ACQUIRED LESIONS OF THE CONDUCTION SYSTEM IN FAMILIAL CONGENITAL HEART BLOCK. 38 8
14127025 1964
13
Monozygotic twins discordant for congenital complete heart block. 8
9041950 1997
14
Congenital complete heart block in children of mothers with primary Sjögren's syndrome. 8
1360080 1992
15
Molecular analysis of the 60-kDa human Ro ribonucleoprotein. 8
3200833 1988
16
De subitaneis mortibus. X. Familial congential heart block. 8
1112019 1975
17
A syndrome of congenital cardiomyopathy with mitral regurgitation, complete heart block and atrial arrhythmia. 8
4812082 1974
18
Familial heart block and sinus bradycardia. Classification and natural history. 8
5016825 1972
19
Familial congenital complete heart block. Its occurrence in 2 children with another genetically determined anomaly. 8
13764564 1961
20
Congenital complete A-V block in three siblings. 8
13842632 1960
21
Failure of intravenous immunoglobulin to prevent congenital heart block: Findings of a multicenter, prospective, observational study. 9 38
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]. 9 38
19886247 2009
23
Ro52, Ro60 and La IgG autoantibody levels and Ro52 IgG subclass profiles longitudinally throughout pregnancy in congenital heart block risk pregnancies. 9 38
16830880 2006
24
Structurally derived mutations define congenital heart block-related epitopes within the 200-239 amino acid stretch of the Ro52 protein. 9 38
15683447 2005
25
Cloning and characterization of two human Ro52-specific monoclonal autoantibodies directed towards a domain associated with congenital heart block. 9 38
14987746 2004
26
SS-A/Ro52, an autoantigen involved in CD28-mediated IL-2 production. 9 38
12646630 2003
27
Successful outcome in a fetus with an extremely low heart rate due to isolated complete congenital heart block. 9 38
12601845 2003
28
Autoantibodies against neonatal heart M1 muscarinic acetylcholine receptor in children with congenital heart block. 9 38
11247640 2001
29
Sjögren autoantibodies modify neonatal cardiac function via M1 muscarinic acetylcholine receptor activation. 9 38
10402042 1999
30
Circulating antibodies against neonatal cardiac muscarinic acetylcholine receptor in patients with Sjögren's syndrome. 9 38
8974073 1996
31
Ro and La antigens and maternal anti-La idiotype on the surface of myocardial fibres in congenital heart block. 9 38
2031658 1991
32
Possible association between anti-Ro antibodies and myocarditis or cardiac conduction defects in adults with systemic lupus erythematosus. 9 38
2396870 1990
33
Minimally invasive technique of placing a dual chamber permanent pacemaker in children. 38
31431764 2019
34
Benefits of fetal echocardiographic surveillance in pregnancies at risk of congenital heart block: single-center study of 212 anti-Ro52-positive pregnancies. 38
30620419 2019
35
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. 38
31272943 2019
36
Live better electrically? Optimizing the timing and application of pacing in congenital heart block. 38
31395307 2019
37
Cesarean delivery in congenital heart block and need of temporary pacing: A case report. 38
31333389 2019
38
Congenital heart block: Pace earlier (Childhood) than later (Adulthood). 38
31262557 2019
39
Comorbidity and long-term outcome in patients with congenital heart block and their siblings exposed to Ro/SSA autoantibodies in utero. 38
30808622 2019
40
Comorbidity and long-term outcome in patients with congenital heart block and their siblings exposed to Ro/SSA autoantibodies in utero. 38
31088791 2019
41
Pregnancy outcomes in mixed connective tissue disease: a multicentre study. 38
31079145 2019
42
Unconventional 2:1 Ventricular Pacing in a Neonate with Congenital Heart Block and Biventricular Noncompaction. 38
31236081 2019
43
Systemic lupus erythematosus in pregnancy: high risk, high reward. 38
30676534 2019
44
[Congenital heart block revealing a maternal systemic disease : pathophysiology and therapeutic approaches]. 38
30793563 2019
45
Posterior Spinal Fusion in a Scoliotic Patient With Congenital Heart Block Treated With Pacemaker: An Intraoperative Technical Difficulty. 38
30086081 2019
46
Siglec-1 Macrophages and the Contribution of IFN to the Development of Autoimmune Congenital Heart Block. 38
30518570 2019
47
First Report of the Italian Registry on Immune-Mediated Congenital Heart Block (Lu.Ne Registry). 38
30873413 2019
48
Beta1-adrenergic receptor antibodies in children with dilated cardiomyopathy. 38
30468641 2019
49
Neuroblastoma, opsoclonus-myoclonus ataxia syndrome and neonatal lupus with congenital heart block: is there an association? 38
30282557 2018
50
Two case reports of neonatal autoantibody-associated congenital heart block. 38
30407356 2018

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

Biological processes related to Heart Block, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell cycle GO:0045787 9.16 TRIM21 CALR
2 protein localization to nucleus GO:0034504 8.96 TOR1A CALR
3 chaperone-mediated protein folding GO:0061077 8.32 TOR1A

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....