MCID: CNG026
MIFTS: 73

Congenital Heart Defect malady

Cardiovascular diseases, Endocrine diseases categories

Summaries for Congenital Heart Defect

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8Disease Ontology, 33MedlinePlus, 3CDC, 63Wikipedia, 32MalaCards
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MedlinePlus:33 If you're like most people, you think that heart disease is a problem for others. but heart disease is the number one killer in the u.s. it is also a major cause of disability. there are many different forms of heart disease. the most common cause of heart disease is narrowing or blockage of the coronary arteries, the blood vessels that supply blood to the heart itself. this is called coronary artery disease and happens slowly over time. it's the major reason people have heart attacks. other kinds of heart problems may happen to the valves in the heart, or the heart may not pump well and cause heart failure. some people are born with heart disease. you can help reduce your risk of heart disease by taking steps to control factors that put you at greater risk: control your blood pressure lower your cholesterol don't smoke get enough exercise nih: national heart, lung, and blood institute

MalaCards: Congenital Heart Defect, also known as congenital heart disease, is related to tetralogy of fallot and conotruncal heart malformations. An important gene associated with Congenital Heart Defect is DTNA (dystrobrevin, alpha), and among its related pathways are Signaling by NODAL and Heart Development. The drugs inamrinone and atenolol and the compounds tetrahydrofolate and 5-methyltetrahydrofolate have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and thyroid, and related mouse phenotypes are cardiovascular system and muscle.

Disease Ontology:8 A cardiovascular system disease that involves the heart or blood vessels (arteries and veins).

CDC:3 Congenital heart defects are conditions that are present at birth and can affect the structure of a baby's heart and the way it works. They are the most common type of birth defect. As medical care and treatment have advanced, infants with congenital heart defects are living longer and healthier lives. Many now are living into adulthood.

Wikipedia:63 Congenital heart defect (CHD) or congenital heart anomaly is a defect in the structure of the heart and... more...

Aliases & Classifications for Congenital Heart Defect

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8Disease Ontology, 10DISEASES, 33MedlinePlus, 60UMLS, 63Wikipedia, 22GTR, 44Novoseek, 56SNOMED-CT, 34MeSH, 39NCIt, 27ICD9CM, 25ICD10
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Classifications:

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


Aliases & Descriptions:

congenital heart defect 8 10
congenital heart disease 63 22 44 60
heart diseases 44 33 60
congenital heart defects 8 33
heart failure 44 33
heart disease 8 10
thyroid hormone plasma membrane transport defect 60
congenital anomaly of heart 8
congestive heart failure 60
heart defects congenital 44
heart malformation 8
heart defect 8


Related Diseases for Congenital Heart Defect

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17GeneCards, 18GeneDecks
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Diseases in the Congenital Heart Defect family:

Congenital Heart Defects, Nonsyndromic, 2 Congenital Heart Defects, Multiple Types, 3

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

(show top 50)    (show all 969)
idRelated DiseaseScoreTop Affiliating Genes
1tetralogy of fallot30.5JAG1, NKX2-5, GATA6, GDF1
2conotruncal heart malformations30.4GDF1, GATA6
3muscular dystrophy30.3COL6A1
4ventricular septal defect30.2NKX2-5, JAG1
5spina bifida30.2SLC19A1, MTRR, CITED2
6atrioventricular septal defect29.9NKX2-5
7neural tube defects29.9SLC19A1, ZIC3, MTRR
8myopathy29.6CASQ1, COL6A1, DTNA
9ischemic heart disease11.2
10hypertensive heart disease11.1
11atherosclerosis10.7
12rheumatic fever10.7
13myocardial infarction10.7
14coronary artery disease10.7
15vascular disease10.6
16thyroid hormone plasma membrane transport defect10.6
17stroke, ischemic10.6
18beriberi10.5
19type 2 diabetes mellitus10.5
20heart valve disease10.5
21brain disease10.5
22hypertrophic cardiomyopathy10.5
23ischemia10.5
24aortic disease10.5
25down syndrome10.5
26heart cancer10.4
27chromosomal disease10.4
28periodontal disease10.4
29periodontitis10.4
30microcephaly10.4
31familial hypercholesterolemia10.4
32cerebrovascular disease10.4
33angina pectoris10.4
34glanzmann's thrombasthenia10.4
35urea cycle disorder10.4
36hereditary folate malabsorption10.4
37zap70-related severe combined immunodeficiency10.4
38acro-pectoro-renal field defect10.4
39ankle defects short stature10.4
40axial mesodermal dysplasia spectrum10.4
41branchial arch defects10.4
42sacral defect with anterior meningocele10.4
43caudal regression syndrome10.4
44chylomicron retention disease10.4
45x-linked creatine deficiency10.4
46cystinosis, ocular nonnephropathic10.4
47hmg coa lyase deficiency10.4
48imerslund-grasbeck syndrome10.4
49defective apolipoprotein b-10010.4
50diaphragmatic hernia upper limb defects10.4

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



Diseases related to congenital heart defect

Clinical Features for Congenital Heart Defect

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Drugs & Therapeutics for Congenital Heart Defect

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

Search CenterWatch for Congenital Heart Defect

Drug clinical trials:

Search ClinicalTrials for Congenital Heart Defect

Search NIH Clinical Center for Congenital Heart Defect

Search CenterWatch for Congenital Heart Defect

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Congenital Heart Defect

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22GTR
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Genetic tests related to Congenital Heart Defect:

id Genetic test Affiliating Genes
1 Congenital Heart Disease22

Anatomical Context for Congenital Heart Defect

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32MalaCards
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MalaCards organs/tissues related to Congenital Heart Defect:

32
Heart, Lung, Thyroid, Skin, Endothelial, B cells, Testes, Eye, Brain, Tongue

Animal Models for Congenital Heart Defect or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Congenital Heart Defect:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538510.5TDGF1, DTNA, ZIC3, HEY2, JAG1, GATA6
2MP:000536910.5COL6A1, DTNA, CASQ1, HEY2, JAG1, GATA6
3MP:000538010.5ZIC3, HEY2, JAG1, GATA6, CITED2, NKX2-5
4MP:000537810.5DTNA, ZIC3, CASQ1, HEY2, JAG1, GATA6
5MP:001076810.4JAG1, HEY2, ZIC3, DTNA, GATA6, CITED2
6MP:000538810.4GDF1, NKX2-5, CITED2, GATA6, HEY2, ZIC3
7MP:000538210.4ZIC3, HEY2, JAG1, CITED2, NKX2-5, GDF1
8MP:000537010.3ZIC3, HEY2, JAG1, GATA6, GDF1, SLC19A1
9MP:000287310.1ZIC3, JAG1, GATA6, CITED2, NKX2-5, GDF1

Publications for Congenital Heart Defect

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50PubMed
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Articles related to Congenital Heart Defect:

(show top 50)    (show all 314)
idTitleAuthorsYear
1
Association between congenital heart defects and severe infections in children with Down syndrome. (24405557)
2014
2
Smooth implementation of critical congenital heart defect screening in a newborn nursery. (24037922)
2014
3
A 1.1Mb deletion in distal 13q deletion syndrome region with congenital heart defect and postaxial polydactyly: additional support for a CHD locus at distal 13q34 region. (23639964)
2013
4
Congenital heart defects in oculodentodigital dysplasia: Report of two cases. (24115525)
2013
5
Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability. (24357125)
2013
6
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome. (23783273)
2013
7
Maternal overweight and obesity and risk of congenital heart defects in offspring. (24362506)
2013
8
Clinical and pathologic comparison of simple left-to-right shunt congenital heart disease and transposition of the great arteries with ventricular septal defect. (22543345)
2012
9
Preparing heart and mind following prenatal diagnosis of complex congenital heart defect. (22927700)
2012
10
Clinical and molecular delineation of 16p13.3 duplication in a patient with congenital heart defect and multiple congenital anomalies. (22307725)
2012
11
Prenatal ultrasound demonstration of scoliosis, absence of one rib, a radial club hand, congenital heart defects and absent stomach in a fetus with VACTERL association. (22482989)
2012
12
Porcine model of congenital heart defect with decreased pulmonary blood flow. (21805397)
2011
13
Mechanisms of pulmonary hypertension related to ventricular septal defect in congenital heart disease. (22035778)
2011
14
An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. (19464398)
2009
15
Proteomic-based detection of a protein cluster dysregulated during cardiovascular development identifies biomarkers of congenital heart defects. (19156209)
2009
16
An uncommonly seen congenital heart defect: aortopulmonary window with pulmonary hypertension in a 19-year old male patient. (19666424)
2009
17
Identification of second trimester screen positive pregnancies at increased risk for congenital heart defects. (19266536)
2009
18
HLHS--congenital heart defect in High Risk Pregnancy Unit in 2001-2007. (18652130)
2008
19
Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). (18553555)
2008
20
CBS gene variations and serum homocysteine level associated with congenital heart defects]. (18839533)
2008
21
Common 894G>T single nucleotide polymorphism in the gene coding for endothelial nitric oxide synthase (eNOS) and risk of congenital heart defects. (18844489)
2008
22
Abnormality of venous return associated with congenital heart defect in an adult patient. (17608107)
2007
23
Transient early embryonic expression of Nkx2-5 mutations linked to congenital heart defects in human causes heart defects in Xenopus laevis. (17685485)
2007
24
A 3-day-old infant with a congenital heart defect and hypocalcemia. 22q11 deletion syndrome. (17515164)
2007
25
Non-optimal maturation of the oocyte, maternal MTHFR polymorphisms, periconceptional folate, and decrease of congenital heart defects. (17575269)
2007
26
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. (17273977)
2007
27
Mycoplasma hominis endocarditis in a child with a complex congenital heart defect. (16940850)
2006
28
Single-nucleotide polymorphisms of VEGF gene are associated with risk of congenital valvuloseptal heart defects. (16569553)
2006
29
Increased plasma levels of natriuretic peptide type B and A in children with congenital heart defects with left compared with right ventricular volume overload or pressure overload. (16117728)
2005
30
Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients. (15060116)
2004
31
Simultaneous repair of pectus excavatum and congenital heart defect in adults by using the convex bar. (15111201)
2004
32
Antioxidant status in newborns and infants suffering from congenital heart defects. (14969161)
2003
33
Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal- growth-factor-like domain of Jagged 1. (12022040)
2002
34
Relief of bronchial compression caused by a congenital heart defect by remodeling of the aortic arch. (10612780)
2000
35
Jagged1 mutations in patients ascertained with isolated congenital heart defects. (10213047)
1999
36
Occult fibrin production during surgery in cyanotic congenital heart defects and extracorporeal circulation]. (10510620)
1999
37
Interventional catheterization decreases plasma levels of atrial natriuretic peptide (ANP) in children with congenital heart defects. (9736347)
1998
38
Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus, diaphragmatic hernia, urinary tract anomalies, congenital heart defect and kyphoscoliosis. (9885021)
1998
39
Distal 8p deletion (8)(p23.1): an easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation. (8779331)
1996
40
Ectrodactyly of lower limbs, congenital heart defect and characteristic facies in four unrelated Dutch patients: a new association. (8867653)
1996
41
Congenital heart defect in a patient with the Hallermann-Streiff syndrome. (7864053)
1994
42
Acyanotic congenital heart disease. Atrial and ventricular septal defects, atrioventricular canal, patent ductus arteriosus, pulmonic stenosis. (8252562)
1993
43
Intrauterine growth retardation, mild frontonasal dysplasia, phocomelic upper limbs with absent thumbs and a variety of internal malformations including choanal atresia, congenital heart defects, polysplenia, absent gall bladder as well as genitourinary anomalies. A possibly "new" MCA syndrome? (1590982)
1992
44
Congenital heart defect in a Japanese girl with Adams-Oliver syndrome: one of the most important complications. (1642283)
1992
45
Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism. (2494886)
1989
46
Update on counseling the family with a first-degree relative with a congenital heart defect. (3344765)
1988
47
Familial risk of congenital heart defect. (3344774)
1988
48
Nursing care study. Congenital heart defect: Mindy's tragedy can be avoided. (259294)
1979
49
Hereditary dextrocardia associated with other congenital heart defects: report of a pedigree. (4839027)
1974
50
A case of congenital heart block with a defect in the interventricular septum. (20267067)
1947

Genetic Variations for Congenital Heart Defect

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Expression for genes affiliated with Congenital Heart Defect

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

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

Pathways for genes affiliated with Congenital Heart Defect

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53Reactome, 37NCBI BioSystems Database, 4Cell Signaling Technology
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Pathways related to Congenital Heart Defect according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.5TDGF1, GDF1
210.4HEY2, GATA6, NKX2-5
310.4TDGF1, PLN, JAG1
410.4TDGF1, NKX2-5, GATA6, JAG1

Compounds for genes affiliated with Congenital Heart Defect

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44Novoseek, 11DrugBank
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Compounds related to Congenital Heart Defect according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tetrahydrofolate4410.4SLC19A1, MTRR
25-methyltetrahydrofolate44 1111.1SLC19A1, MTRR

GO Terms for genes affiliated with Congenital Heart Defect

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

idNameGO IDScoreTop Affiliating Genes
1sarcoplasmic reticulum membraneGO:03301710.4SLN, PLN, CASQ1

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

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1pulmonary artery morphogenesisGO:06115610.8CITED2, JAG1, HEY2
2cardiac muscle cell differentiationGO:05500710.8GATA6, NKX2-5, TDGF1
3ventricular septum morphogenesisGO:06041210.8HEY2, CITED2, NKX2-5
4negative regulation of calcium ion bindingGO:190187710.8SLN, PLN
5embryonic heart tube left/right pattern formationGO:06097110.8CITED2, NKX2-5
6vasculogenesisGO:00157010.8HEY2, CITED2, NKX2-5, TDGF1
7regulation of calcium-transporting ATPase activityGO:190189410.8SLN, PLN
8negative regulation of calcium ion transmembrane transporter activityGO:190102010.8PLN, SLN
9heart loopingGO:00194710.8NKX2-5, CITED2, ZIC3
10positive regulation of cardioblast differentiationGO:05189110.8GATA6, NKX2-5
11negative regulation of calcium ion importGO:09028110.8PLN, SLN
12positive regulation of transcription from RNA polymerase II promoterGO:04594410.8ZIC3, HEY2, JAG1, GATA6, CITED2, NKX2-5
13cardiac septum morphogenesisGO:06041110.8JAG1, HEY2
14pulmonary valve morphogenesisGO:00318410.8HEY2, JAG1
15negative regulation of cardiac muscle cell apoptotic processGO:01066710.7NKX2-5, HEY2
16Notch signaling involved in heart developmentGO:06131410.7JAG1, HEY2
17atrial septum morphogenesisGO:06041310.7HEY2, NKX2-5
18ventricular trabecula myocardium morphogenesisGO:00322210.7HEY2, NKX2-5
19cardiac right ventricle morphogenesisGO:00321510.7HEY2, JAG1
20cardiac muscle hypertrophy in response to stressGO:01489810.7GATA6, HEY2
21ventricular cardiac muscle cell developmentGO:05501510.7NKX2-5, HEY2
22outflow tract septum morphogenesisGO:00314810.7NKX2-5, GATA6
23heart trabecula formationGO:06034710.6HEY2, NKX2-5
24smooth muscle cell differentiationGO:05114510.6GATA6, HEY2
25positive regulation of cardiac muscle cell proliferationGO:06004510.6GATA6, HEY2
26heart developmentGO:00750710.5TDGF1, ADAP2, CITED2
27regulation of calcium ion transportGO:05192410.4PLN, SLN
28negative regulation of transcription, DNA-dependentGO:04589210.4NKX2-5, CITED2, GATA6, HEY2
29negative regulation of catalytic activityGO:04308610.3SLN, PLN
30spleen developmentGO:04853610.2NKX2-5, CITED2

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

idNameGO IDScoreTop Affiliating Genes
1ATPase bindingGO:05111710.4SLN, PLN
2growth factor activityGO:00808310.3TDGF1, GDF1, JAG1
3enzyme inhibitor activityGO:00485710.1SLN, PLN

Products for genes affiliated with Congenital Heart Defect

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  • Antibodies
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Sources for Congenital Heart Defect

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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