MCID: HRT035
MIFTS: 46

Heart Block, Congenital

Categories: Rare diseases, Cardiovascular diseases, Genetic 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
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 third-degree atrioventricular block and atrial standstill 1. An important gene associated with Heart Block, Congenital is TRIM21 (Tripartite Motif Containing 21). The drugs Antibodies and Autoantibodies 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 all 27)
# Related Disease Score Top Affiliating Genes
1 third-degree atrioventricular block 10.4 TRIM21 TROVE2
2 atrial standstill 1 10.4
3 atrioventricular block 10.3
4 diffuse scleroderma 10.3 TNFRSF25 TRIM21
5 punctate epithelial keratoconjunctivitis 10.1 TNFRSF25 TRIM21
6 cogan syndrome 10.1 TRIM21 TROVE2
7 cutaneous lupus erythematosus 10.0 TRIM21 TROVE2
8 immunoglobulin alpha deficiency 10.0 TNFRSF25 TOR1A
9 autoimmune disease of skin and connective tissue 10.0 TNFRSF25 TOR1A
10 primary sjögren syndrome 10.0 CALR TRIM21 TROVE2
11 lupus erythematosus 9.9 CALR TRIM21 TROVE2
12 xerophthalmia 9.9 CDSN TRIM21
13 sialadenitis 9.8 CDSN TRIM21
14 autoimmune disease of gastrointestinal tract 9.8 TNFRSF25 TOR1A
15 diffuse infiltrative lymphocytosis syndrome 9.8 CDSN TRIM21
16 lacrimal apparatus disease 9.8 CDSN TRIM21
17 right atrial isomerism 9.8
18 heart disease 9.8
19 double discordia 9.8
20 autoimmune disease of endocrine system 9.8 DDX41 TNFRSF25
21 adie pupil 9.7 TNFRSF25 TOR1A TRIM21
22 sjogren syndrome 9.7 TRIM21 TROVE2
23 celiac disease 1 9.6 CALR TNFRSF25 TOR1A
24 salivary gland disease 9.5 CDSN TRIM21 TROVE2
25 neuromuscular junction disease 9.5 DDX41 TNFRSF25
26 immune system disease 9.0 DDX41 TNFRSF25 TOR1A TRIM21
27 hypersensitivity reaction disease 8.0 CDSN DDX41 TNFRSF25 TOR1A TRIM21

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:
congenital heart block
absent atrioventricular node
absent lower interatrial septal myocardial fibers
myocardial calcification
myocardial fibrosis
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 atrial arrhythmia 32 HP:0001692
5 absent atrioventricular node 32 HP:0006681
6 myocardial calcification 32 HP:0006690

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 Antibodies Phase 2, Phase 3,Not Applicable
2 Autoantibodies Phase 2, Phase 3
3 gamma-Globulins Phase 2, Phase 3
4 Immunoglobulins Phase 2, Phase 3,Not Applicable
5 Immunoglobulins, Intravenous Phase 2, Phase 3
6 Rho(D) Immune Globulin Phase 2, Phase 3
7
Hydroxychloroquine Approved Phase 2 118-42-3 3652
8 Anti-Infective Agents Phase 2
9 Antimalarials Phase 2
10 Antiparasitic Agents Phase 2
11 Antiprotozoal Agents Phase 2
12 Antirheumatic Agents Phase 2
13
Dexamethasone Approved, Investigational, Vet_approved Not Applicable 50-02-2 5743
14 Antiemetics Not Applicable
15 Anti-Inflammatory Agents Not Applicable
16 Antineoplastic Agents, Hormonal Not Applicable
17 Autonomic Agents Not Applicable
18 BB 1101 Not Applicable
19 Dexamethasone acetate Not Applicable 1177-87-3
20 Gastrointestinal Agents Not Applicable
21 glucocorticoids Not Applicable
22 HIV Protease Inhibitors Not Applicable
23 Hormone Antagonists Not Applicable
24 Hormones Not Applicable
25 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
26 Peripheral Nervous System Agents Not Applicable
27
protease inhibitors 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 Dexamethasone Treatment for Congenital Heart Block (CHB) in Newborns With Lupus Completed NCT00007358 Not Applicable Dexamethasone or other corticosteroid
4 Exercise in Chronically Paced Children Completed NCT00374608
5 Identification of Genetic Basis of Atrioventricular Conduction Defects: From Congenital Forms to Degenerative Forms Recruiting NCT02881671
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, T Cells, Monocytes, Pancreas
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 305)
# Title Authors Year
1
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
2
Association of Natural Killer Cell Ligand Polymorphism HLA-C Asn80Lys With the Development of Anti-SSA/Ro-Associated Congenital Heart Block. ( 29045069 )
2017
3
Neonatal lupus erythematosus with congenital heart block in twins. ( 28051234 )
2016
4
Anaesthetic challenges in a child with sickle-cell disease and congenital heart block. ( 27141119 )
2016
5
Autoimmune congenital heart block: complex and unusual situations. ( 26762645 )
2016
6
Congenital heart block related to maternal autoantibodies: descriptive analysis of a series of 18 cases from a single center. ( 26791874 )
2016
7
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
8
Anti-Ro/SSA autoantibody-positive women's experience of information given on the risk of congenital heart block. ( 26670329 )
2016
9
In search of an antibody specificity highly predictive of congenital heart block. ( 27158527 )
2016
10
Congenital heart block and immune mediated sensorineural hearing loss: possible cross reactivity of immune response. ( 27913750 )
2016
11
Maternal autoantibody profiles at risk for autoimmune congenital heart block: a prospective study in high-risk patients. ( 27026811 )
2016
12
Description of 214 cases of autoimmune congenital heart block: Results of the French neonatal lupus syndrome. ( 26284740 )
2015
13
Reactivity to the p305 Epitope of the I+1G T-Type Calcium Channel and Autoimmune-Associated Congenital Heart Block. ( 25994441 )
2015
14
Maternal predictive factors for fetal congenital heart block in pregnant mothers positive for anti-SS-A antibodies. ( 26457409 )
2015
15
Prevention of recurrent congenital heart block in a SSA/SSB positive mother using high dose maternal IVIG from 16-week gestation. ( 26179183 )
2015
16
Ultrasound findings in fetal congenital heart block associated with maternal anti-Ro/SSA and Anti-La/SSB antibodies. ( 25706362 )
2015
17
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
18
The clinical spectrum of autoimmune congenital heart block. ( 25800217 )
2015
19
Apheresis in high risk antiphospholipid syndrome pregnancy and autoimmune congenital heart block. ( 26626966 )
2015
20
Outcome in 212 anti-Ro/SSA-positive pregnancies and population-based incidence of congenital heart block. ( 26411741 )
2015
21
Absent pulmonary valve, tricuspid atresia, and congenital heart block. ( 25548352 )
2015
22
Maternal Anti-Ro/SSA and Anti-La/SSB Antibodies and Fetal Congenital Heart Block. ( 26085742 )
2015
23
Autoantibody-associated congenital heart block: a rare cause of persistent fetal bradycardia. ( 26002776 )
2015
24
Molecular mechanisms of congenital heart block. ( 24434353 )
2014
25
Effect of Dual-Chamber Pacemaker Implantation on Aortic Dilatation in Patients With Congenital Heart Block. ( 25248809 )
2014
26
Anesthetic management of a 2-day-old with complete congenital heart block. ( 24665257 )
2014
27
Congenital heart block: current thoughts on management, morphologic spectrum, and role of intervention. ( 25247254 )
2014
28
Prevention and treatment in utero of autoimmune-associated congenital heart block. ( 25050975 )
2014
29
Towards computational modelling of the human foetal electrocardiogram: normal sinus rhythm and congenital heart block. ( 24798966 )
2014
30
Some more on preventing congenital heart block. ( 24035837 )
2014
31
Anti-Ro/SSA-p200 antibodies in the prediction of congenital heart block. An Italian multicentre cross-sectional study on behalf of the 'Forum Interdisciplinare per la Ricerca nelle Malattie Autoimmuni (FIRMA) Group' ( 25327946 )
2014
32
Pediatric systems medicine: evaluating needs and opportunities using congenital heart block as a case study. ( 23370412 )
2013
33
Maternal autoantibody levels in congenital heart block and potential prophylaxis with antiinflammatory agents. ( 23063019 )
2013
34
The HLA locus contains novel foetal susceptibility alleles for congenital heart block with significant paternal influence. ( 24354957 )
2013
35
Long-term growth of children with autoantibody-mediated congenital heart block. ( 23551183 )
2013
36
Neonatal congenital heart block. ( 23778728 )
2013
37
Left ventricular function and right ventricular pacing for isolated congenital heart block. ( 23656914 )
2013
38
Neurodevelopment in children with and without congenital heart block born to anti-Ro/SSA-positive mothers. ( 23057469 )
2013
39
Pregnancy With SLE and Fetal Congenital Heart Block: A Case Report. ( 28352433 )
2013
40
The predictive value of anti-SS-A antibodies titration in pregnant women with fetal congenital heart block. ( 22760476 )
2013
41
Congenital heart block maternal sera autoantibodies target an extracellular epitope on the I+1G T-type calcium channel in human fetal hearts. ( 24039792 )
2013
42
Ro52 autoantibody-positive women's experience of being pregnant and giving birth to a child with congenital heart block. ( 22154225 )
2013
43
Cardiac manifestations of neonatal lupus: a review of autoantibody-associated congenital heart block and its impact in an adult population. ( 22183063 )
2012
44
Left ventricular torsional mechanics and diastolic function in congenital heart block with right ventricular pacing. ( 21481959 )
2012
45
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
46
A combination therapy to treat second-degree anti-Ro/La-related congenital heart block: a strategy to avoid stable third-degree heart block? ( 22187163 )
2012
47
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
48
Congenital heart block: evidence for a pathogenic role of maternal autoantibodies. ( 22546326 )
2012
49
Association of the idiotype:antiidiotype antibody ratio with the efficacy of intravenous immunoglobulin treatment for the prevention of recurrent autoimmune-associated congenital heart block. ( 21618202 )
2011
50
Rescue and worsening of congenital heart block-associated electrocardiographic abnormalities in two transgenic mice. ( 21352396 )
2011

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 8.62 TRIM21 TROVE2

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

# Name GO ID Score Top Affiliating Genes
1 chaperone-mediated protein folding GO:0061077 9.26 CALR TOR1A
2 positive regulation of cell cycle GO:0045787 9.16 CALR TRIM21
3 protein localization to nucleus GO:0034504 8.96 CALR TOR1A
4 regulation of type I interferon production GO:0032479 8.62 DDX41 TRIM21

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
Content
Loading form....