MCID: HRT035
MIFTS: 47

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 38 12 53 59 29 55 44 15 73
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


Classifications:



External Ids:

OMIM 57 234700
Disease Ontology 12 DOID:990
ICD10 33 Q24.6
ICD9CM 35 746.86
MeSH 44 C535758
SNOMED-CT 68 46619002
Orphanet 59 ORPHA60041
UMLS via Orphanet 74 C3884338 C0149530
MESH via Orphanet 45 C535758
ICD10 via Orphanet 34 Q24.6
MedGen 42 C0149530
UMLS 73 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 lupus erythematosus and atrioventricular block. An important gene associated with Heart Block, Congenital is TRIM21 (Tripartite Motif Containing 21). The drugs Immunologic Factors and Immunoglobulins, Intravenous 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.

Description 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 56)
# Related Disease Score Top Affiliating Genes
1 lupus erythematosus 30.6 CALR TRIM21 TROVE2
2 atrioventricular block 10.6
3 atrial standstill 1 10.5
4 systemic lupus erythematosus 10.3
5 neonatal lupus erythematosus 10.2
6 connective tissue disease 10.2
7 sialadenitis 10.1 TRIM21 TROVE2
8 cogan syndrome 10.1 TRIM21 TROVE2
9 diffuse scleroderma 10.1 TNFRSF25 TRIM21
10 punctate epithelial keratoconjunctivitis 10.1 TNFRSF25 TRIM21
11 cutaneous lupus erythematosus 10.0 TRIM21 TROVE2
12 chilblain lupus 1 10.0 TNFRSF25 TRIM21
13 hydrops fetalis, nonimmune, and/or atrial septal defect 10.0
14 hypothyroidism 10.0
15 fetal edema 10.0
16 hydrops fetalis 10.0
17 collagen disease 10.0 TRIM21 TROVE2
18 autoimmune disease of endocrine system 9.9 DDX41 TNFRSF25
19 sjogren syndrome 9.9 TRIM21 TROVE2
20 myocarditis 9.9
21 dextrocardia 9.9
22 adrenal cortical hypofunction 9.9 TNFRSF25 TOR1A
23 autoimmune disease of skin and connective tissue 9.9 TNFRSF25 TOR1A
24 immunoglobulin alpha deficiency 9.9 TNFRSF25 TOR1A
25 right atrial isomerism 9.9
26 heart disease 9.9
27 double discordia 9.9
28 neuromuscular junction disease 9.9 DDX41 TNFRSF25
29 autoimmune disease of gastrointestinal tract 9.8 TNFRSF25 TOR1A
30 adie pupil 9.8 TNFRSF25 TOR1A TRIM21
31 celiac disease 1 9.8 CALR TNFRSF25 TOR1A
32 rheumatoid arthritis 9.7
33 endocardial fibroelastosis 9.7
34 neuroblastoma 9.7
35 rheumatic fever-related antigen 9.7
36 ataxia and polyneuropathy, adult-onset 9.7
37 tricuspid atresia 9.7
38 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
39 arthritis 9.7
40 autoimmune hepatitis 9.7
41 hepatitis 9.7
42 sensorineural hearing loss 9.7
43 endocarditis 9.7
44 hemopericardium 9.7
45 pericardial effusion 9.7
46 rheumatic fever 9.7
47 ventricular septal defect 9.7
48 antiphospholipid syndrome 9.7
49 purpura 9.7
50 sickle cell disease 9.7

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



Diseases related to Heart Block, Congenital

Symptoms & Phenotypes for Heart Block, Congenital

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
cardiomyopathy
mitral regurgitation
myocardial fibrosis
congenital heart block
absent atrioventricular node
more

Clinical features from OMIM:

234700

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 absent atrioventricular node 32 HP:0006681
5 myocardial calcification 32 HP:0006690
6 atrial arrhythmia 32 HP:0001692

MGI Mouse Phenotypes related to Heart Block, Congenital:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.17 CALR DDX41 LAMB1 TNFRSF25 TOR1A TRIM21

Drugs & Therapeutics for Heart Block, Congenital

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

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 2, Phase 3,Not Applicable
2 Immunoglobulins, Intravenous Phase 2, Phase 3
3 Immunoglobulins Phase 2, Phase 3,Not Applicable
4 gamma-Globulins Phase 2, Phase 3
5 Antibodies Phase 2, Phase 3,Not Applicable
6 Rho(D) Immune Globulin Phase 2, Phase 3
7 Autoantibodies Phase 2, Phase 3
8
Hydroxychloroquine Approved Phase 2 118-42-3 3652
9 Antiprotozoal Agents Phase 2
10 Antiparasitic Agents Phase 2
11 Antimalarials Phase 2
12 Anti-Infective Agents Phase 2
13 Antirheumatic Agents Phase 2
14
Dexamethasone acetate Approved, Investigational, Vet_approved Not Applicable 1177-87-3
15
Dexamethasone Approved, Investigational, Vet_approved Not Applicable 50-02-2 5743
16
protease inhibitors Not Applicable
17 Gastrointestinal Agents Not Applicable
18 Anti-Inflammatory Agents Not Applicable
19 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
20 Hormone Antagonists Not Applicable
21 glucocorticoids Not Applicable
22 Autonomic Agents Not Applicable
23 Antineoplastic Agents, Hormonal Not Applicable
24 Hormones Not Applicable
25 BB 1101 Not Applicable
26 HIV Protease Inhibitors Not Applicable
27 Peripheral Nervous System Agents Not Applicable
28 Antiemetics Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Preventive IVIG Therapy for Congenital Heart Block Completed NCT00460928 Phase 2, Phase 3 intravenous immune globulin (IVIG)
2 Preventive Approach to Congenital Heart Block With Hydroxychloroquine Recruiting NCT01379573 Phase 2 Hydroxychloroquine
3 Identification of Genetic Basis of Atrioventricular Conduction Defects: From Congenital Forms to Degenerative Forms Unknown status NCT02881671
4 Dexamethasone Treatment for Congenital Heart Block (CHB) in Newborns With Lupus Completed NCT00007358 Not Applicable Dexamethasone or other corticosteroid
5 Exercise in Chronically Paced Children Completed NCT00374608
6 The Research Registry for Neonatal Lupus Recruiting NCT00074373

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, Pancreas, T Cells, Monocytes, Skin
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 328)
# Title Authors Year
1
Neuroblastoma, opsoclonus-myoclonus ataxia syndrome and neonatal lupus with congenital heart block: is there an association? ( 30282557 )
2018
2
European families reveal MHC class I and II associations with autoimmune-mediated congenital heart block. ( 29453219 )
2018
3
Posterior Spinal Fusion in a Scoliotic Patient with Congenital Heart Block Treated with Pacemaker: An Intraoperative Technical Difficulty. ( 30086081 )
2018
4
The prevention, screening and treatment of congenital heart block from neonatal lupus: a survey of provider practices. ( 30137589 )
2018
5
Could Timing Be Everything for Antibody-Mediated Congenital Heart Block? ( 30309473 )
2018
6
Two case reports of neonatal autoantibody-associated congenital heart block. ( 30407356 )
2018
7
Siglec-1 Macrophages and the Contribution of IFN to the Development of Autoimmune Congenital Heart Block. ( 30518570 )
2018
8
Anti-Ro52 antibody level is an important marker of fetal congenital heart block risk in anti-Ro/SSA antibody positive pregnancy. ( 28880700 )
2018
9
Wide complex tachycardia in a patient with congenital heart block: What is the mechanism? ( 28940430 )
2018
10
High maternal expression of SIGLEC1 on monocytes as a surrogate marker of a type I interferon signature is a risk factor for the development of autoimmune congenital heart block. ( 28501799 )
2017
11
Association of Natural Killer Cell Ligand Polymorphism HLA-C Asn80Lys With the Development of Anti-SSA/Ro-Associated Congenital Heart Block. ( 29045069 )
2017
12
Autoimmune-associated Congenital Heart Block: A New Insight in Fetal Life. ( 29176145 )
2017
13
Low titer, isolated anti Ro/SSA 60 kd antibodies is correlated with positive pregnancy outcomes in women at risk of congenital heart block. ( 28204891 )
2017
14
Cardiac fibroblast transcriptome analyses support a role for interferogenic, profibrotic, and inflammatory genes in anti-SSA/Ro-associated congenital heart block. ( 28626076 )
2017
15
Complete congenital heart block: A case of multilevel block. ( 28649500 )
2017
16
Minimally Invasive Epicardial Pacemaker Implantation in Neonates with Congenital Heart Block. ( 28876373 )
2017
17
Should we treat congenital heart block with fluorinated corticosteroids? ( 28899797 )
2017
18
Environmental and lifestyle factors influencing risk of congenital heart block during pregnancy in anti-Ro/SSA-positive women. ( 28955500 )
2017
19
Neonatal lupus erythematosus with congenital heart block in twins. ( 28051234 )
2016
20
Anaesthetic challenges in a child with sickle-cell disease and congenital heart block. ( 27141119 )
2016
21
Autoimmune congenital heart block: complex and unusual situations. ( 26762645 )
2016
22
Congenital heart block related to maternal autoantibodies: descriptive analysis of a series of 18 cases from a single center. ( 26791874 )
2016
23
The high incidence of anti-Ro/SSA and anti-p200 antibodies in female patients with connective tissue diseases confirms the importance of screening for congenital heart block-associated autoantibodies during pregnancy. ( 26830903 )
2016
24
Anti-Ro/SSA autoantibody-positive women's experience of information given on the risk of congenital heart block. ( 26670329 )
2016
25
In search of an antibody specificity highly predictive of congenital heart block. ( 27158527 )
2016
26
Congenital heart block and immune mediated sensorineural hearing loss: possible cross reactivity of immune response. ( 27913750 )
2016
27
Maternal autoantibody profiles at risk for autoimmune congenital heart block: a prospective study in high-risk patients. ( 27026811 )
2016
28
Plasmapheresis, intravenous immunoglobulins and bethametasone - a combined protocol to treat autoimmune congenital heart block: a prospective cohort study. ( 27385463 )
2016
29
Correlation of Maternal Autoantibodies with Fetal Congenital Heart Block. ( 27651588 )
2016
30
Successful Preventive Treatment of Congenital Heart Block During Pregnancy in a Woman with Systemic Lupus Erythematosus with Anti-La/Ro Antibody. ( 27803518 )
2016
31
Complete congenital heart block in a neonate with a complex congenital heart defect in Africa. ( 27904846 )
2016
32
Description of 214 cases of autoimmune congenital heart block: Results of the French neonatal lupus syndrome. ( 26284740 )
2015
33
Reactivity to the p305 Epitope of the I+1G T-Type Calcium Channel and Autoimmune-Associated Congenital Heart Block. ( 25994441 )
2015
34
Maternal predictive factors for fetal congenital heart block in pregnant mothers positive for anti-SS-A antibodies. ( 26457409 )
2015
35
Prevention of recurrent congenital heart block in a SSA/SSB positive mother using high dose maternal IVIG from 16-week gestation. ( 26179183 )
2015
36
Ultrasound findings in fetal congenital heart block associated with maternal anti-Ro/SSA and Anti-La/SSB antibodies. ( 25706362 )
2015
37
Plasma exchange effectively removes 52- and 60-kDa anti-Ro/SSA and anti-La/SSB antibodies in pregnant women with congenital heart block. ( 25825254 )
2015
38
The clinical spectrum of autoimmune congenital heart block. ( 25800217 )
2015
39
Apheresis in high risk antiphospholipid syndrome pregnancy and autoimmune congenital heart block. ( 26626966 )
2015
40
Outcome in 212 anti-Ro/SSA-positive pregnancies and population-based incidence of congenital heart block. ( 26411741 )
2015
41
Absent pulmonary valve, tricuspid atresia, and congenital heart block. ( 25548352 )
2015
42
Maternal Anti-Ro/SSA and Anti-La/SSB Antibodies and Fetal Congenital Heart Block. ( 26085742 )
2015
43
Autoantibody-associated congenital heart block: a rare cause of persistent fetal bradycardia. ( 26002776 )
2015
44
Molecular mechanisms of congenital heart block. ( 24434353 )
2014
45
Effect of Dual-Chamber Pacemaker Implantation on Aortic Dilatation in Patients With Congenital Heart Block. ( 25248809 )
2014
46
Anesthetic management of a 2-day-old with complete congenital heart block. ( 24665257 )
2014
47
Congenital heart block: current thoughts on management, morphologic spectrum, and role of intervention. ( 25247254 )
2014
48
Prevention and treatment in utero of autoimmune-associated congenital heart block. ( 25050975 )
2014
49
Towards computational modelling of the human foetal electrocardiogram: normal sinus rhythm and congenital heart block. ( 24798966 )
2014
50
Some more on preventing congenital heart block. ( 24035837 )
2014

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 endoplasmic reticulum lumen GO:0005788 8.8 CALR LAMB1 TOR1A

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 CALR TRIM21
2 protein localization to nucleus GO:0034504 8.96 CALR TOR1A
3 chaperone-mediated protein folding GO:0061077 8.62 CALR TOR1A

Sources for Heart Block, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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