MCID: CNG026
MIFTS: 65

Congenital Heart Defect malady

Cardiovascular category

Summaries for Congenital Heart Defect

Sources:
8Disease Ontology, 34MedlinePlus, 3CDC, 64Wikipedia, 33MalaCards
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MedlinePlus:34 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 conotruncal heart malformations and neural tube defects. 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. 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 In the United States, the most common type of heart disease is coronary artery disease (CAD), which can lead to heart attack. You can greatly reduce your risk for CAD through lifestyle changes and, in some cases, medication.

Wikipedia:64 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

Sources:
8Disease Ontology, 10DISEASES, 34MedlinePlus, 61UMLS, 64Wikipedia, 22GTR, 45Novoseek, 57SNOMED-CT, 35MeSH, 40NCIt, 27ICD9CM, 25ICD10
See all sources

Classifications:

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


Aliases & Descriptions:

congenital heart defect 8 10
congenital heart disease 64 22 45 61
heart diseases 45 34 61
congenital heart defects 8 34
heart failure 45 34
heart disease 8 10
thyroid hormone plasma membrane transport defect 61
congenital anomaly of heart 8
congestive heart failure 61
heart defects congenital 45
heart malformation 8
heart defect 8


Related Diseases for Congenital Heart Defect

Sources:
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 934)
idRelated DiseaseScoreTop Affiliating Genes
1conotruncal heart malformations30.5GDF1, GATA6
2neural tube defects30.3SLC19A1, ZIC3, MTRR
3tetralogy of fallot30.2JAG1, NKX2-5, GATA6, GDF1
4ventricular septal defect30.2NKX2-5, JAG1
5spina bifida30.2SLC19A1, MTRR, CITED2
6atrioventricular septal defect30.0NKX2-5
7hypertensive heart disease11.1
8sleep apnea10.8
9atherosclerosis10.8
10central sleep apnea10.8
11rheumatic fever10.7
12systolic heart failure10.7
13insulin resistance10.7
14heart tumor10.7
15coronary heart disease10.7
16thyroid hormone plasma membrane transport defect10.6
17stroke, ischemic10.6
18coronary heart disease 210.6
19beriberi10.6
20coronary artery disease,10.6
21diastolic heart failure10.6
22acute myocardial infarction10.6
23hypercholesterolemia10.6
24cardiovascular disease risk factor10.5
25n syndrome10.5
26pulmonary disease, chronic obstructive10.5
27mental retardation10.5
28microcephaly10.4
29arteriovenous malformation10.4
30subacute bacterial endocarditis10.4
31rheumatic congestive heart failure10.4
32familial hypercholesterolemia10.4
33acute myocarditis10.4
34cardiogenic shock10.4
35noonan syndrome10.4
36carcinoid syndrome10.4
37glanzmann's thrombasthenia10.4
38takayasu's arteritis10.4
39urea cycle disorder10.4
40hereditary folate malabsorption10.4
41zap70-related severe combined immunodeficiency10.4
42acro-pectoro-renal field defect10.4
43ankle defects short stature10.4
44axial mesodermal dysplasia spectrum10.4
45branchial arch defects10.4
46sacral defect with anterior meningocele10.4
47caudal regression syndrome10.4
48chylomicron retention disease10.4
49x-linked creatine deficiency10.4
50cystinosis, ocular nonnephropathic10.4

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



Diseases related to congenital heart defect

Clinical Features for Congenital Heart Defect

Drugs & Therapeutics for Congenital Heart Defect

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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 UMLS61/NDF-RT41:

Genetic Tests for Congenital Heart Defect

Sources:
22GTR
See all sources

Genetic tests related to Congenital Heart Defect:

id Genetic test Affiliating Genes
1 Congenital Heart Disease22

Anatomical Context for Congenital Heart Defect

Animal Models for Congenital Heart Defect or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Congenital Heart Defect

Sources:
51PubMed
See all sources

Articles related to Congenital Heart Defect:

(show top 50)    (show all 314)
idTitleAuthorsYear
1
Tissue Doppler imaging detects impaired biventricular performance shortly after congenital heart defect surgery. (23001517)
2013
2
Ventricular Performance After Surgery for a Congenital Heart Defect as Assessed Using Advanced Echocardiography: From Doppler Flow to 3D Echocardiography and Speckle-Tracking Strain Imaging. (24121730)
2013
3
Landiolol hydrochloride infusion for treatment of junctional ectopic tachycardia in post-operative paediatric patients with congenital heart defect. (23471432)
2013
4
Non-synonymous variants in pre-B cell leukemia homeobox (PBX) genes are associated with congenital heart defects. (22426282)
2012
5
CITED2 mutation links congenital heart defects to dysregulation of the cardiac gene VEGF and PITX2C expression. (22735262)
2012
6
Congenital heart defects associated with atrial heterotaxy. (22980606)
2012
7
Meta analysis of the association between MTHFR C677T polymorphism and the risk of congenital heart defects. (22175539)
2012
8
Newborn screening for critical congenital heart disease: essential public health roles for birth defects monitoring programs. (23184496)
2012
9
Congenital heart defect case ascertainment by the Alberta Congenital Anomalies Surveillance System. (22473636)
2012
10
Transesophageal echocardiographic appearance and magnetic resonance imaging of a rare congenital heart disease: Gerbode defect. (21282202)
2011
11
General maternal medication use, folic acid, the MDR1 C3435T polymorphism, and the risk of a child with a congenital heart defect. (21183151)
2011
12
Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. (21533779)
2011
13
Echocardiographic diagnosis of atrioventricular septal defect without primum atrial septal defect: a relatively "common" congenital heart defect in Down's syndrome. (21362598)
2011
14
Ventriculomegaly, intrauterine growth restriction, and congenital heart defects as salient prenatal sonographic findings of Miller-Dieker lissencephaly syndrome associated with monosomy 17p (17p13.2 --> pter) in a fetus. (20466299)
2010
15
Neutrophil oxidative metabolism in Down syndrome patients with congenital heart defects. (19593803)
2010
16
Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay. (20082465)
2010
17
Congenital diaphragmatic hernia and a complex heart defect in association with Wolf-Hirschhorn syndrome. (20830802)
2010
18
Ischaemic intestinal disease in neonates with congenital heart defects: the timing of cardiac surgery does matter. (20019202)
2010
19
Identification of GATA6 sequence variants in patients with congenital heart defects. (20581743)
2010
20
Congenital heart defects in two siblings in an Axenfeld-Rieger syndrome family. (20179581)
2010
21
Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects. (19725133)
2009
22
A duplication including GATA4 does not co-segregate with congenital heart defects. (19353638)
2009
23
Eight-fold increased risk for congenital heart defects in children carrying the nicotinamide N-methyltransferase polymorphism and exposed to medicines and low nicotinamide. (18441319)
2008
24
Development of a miniaturized heart-lung machine for neonates with congenital heart defect. (18812743)
2008
25
Bilateral arterial duct 'stenting' in a low-weight neonate with complex congenital heart defect. (18695445)
2008
26
A microduplication of CBP in a patient with mental retardation and a congenital heart defect. (17702016)
2007
27
Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study. (17188582)
2007
28
Simultaneous repair of congenital heart defect and pectus excavatum. (18157424)
2007
29
Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother? (17497718)
2007
30
Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial defects and congenital heart defects in China. (16019224)
2006
31
Dietary intake of B-vitamins in mothers born a child with a congenital heart defect. (17124548)
2006
32
Relationship between polymorphism of methylenetetrahydrofolate dehydrogenase and congenital heart defect. (15861780)
2005
33
Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome. (12798584)
2003
34
Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). (14638541)
2003
35
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. (12960218)
2003
36
A girl with congenital heart defect, deformed hands and a sacral mass. (11890219)
2002
37
"Repaired" aortic coarctation in adults: not a "simple" congenital heart defect. (10732901)
2000
38
Misregulation of connexin43 gap junction channels and congenital heart defects. (10207906)
1999
39
Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects. (10474162)
1999
40
Congenital heart defect in sibs with discordant karyotypes. (9805136)
1998
41
A congenital heart defect in Drosophila caused by an action-potential mutation. (8719771)
1995
42
Right upper limb bud triplication and polythelia, left sided hemihypertrophy and congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis: disorganisation-like spectrum or patterning gene defect? (7562971)
1995
43
Polymorphisms and linkage disequilibrium in the COL6A1 and COL6A2 gene cluster: novel DNA polymorphisms in the region of a candidate gene for congenital heart defects in Down's syndrome. (8094066)
1993
44
Sodium and potassium concentrations in red blood cells and plasma in children with congenital heart defect. (3426857)
1987
45
Genetic counseling for young adults who have a congenital heart defect. (3588454)
1986
46
A genetic study of children with congenital heart defect. (6525309)
1984
47
Developmental delay, growth deficiency, congenital heart defect, and multiple craniofacial anomalies. (6590783)
1983
48
Ring 13 chromosome associated with microcephaly, congenital heart defect, intrauterine growth retardation, and abnormal skin pigmentation. (890095)
1977
49
Syndrome of mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, growth failure and craniosynostosis. (890093)
1977
50
CONGENITAL HEART BLOCK WITH ATRIAL AND VENTRICULAR SEPTAL DEFECT. (18609914)
1943

Genetic Variations for Congenital Heart Defect

Expression for genes affiliated with Congenital Heart Defect

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

Sources:
54Reactome, 38NCBI BioSystems Database, 4Cell Signaling Technology
See all sources

Pathways related to Congenital Heart Defect according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Congenital Heart Defect

Sources:
45Novoseek, 11DrugBank
See all sources

Compounds related to Congenital Heart Defect according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tetrahydrofolate4510.4SLC19A1, MTRR
25-methyltetrahydrofolate45 1111.1SLC19A1, MTRR

GO Terms for genes affiliated with Congenital Heart Defect

Sources:
16Gene Ontology
See all sources

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:06115610.8JAG1, HEY2, CITED2
2cardiac muscle cell differentiationGO:05500710.8NKX2-5, TDGF1, GATA6
3ventricular septum morphogenesisGO:06041210.8NKX2-5, CITED2, HEY2
4regulation of calcium-transporting ATPase activityGO:190189410.8SLN, PLN
5embryonic heart tube left/right pattern formationGO:06097110.8NKX2-5, CITED2
6vasculogenesisGO:00157010.8TDGF1, HEY2, CITED2, NKX2-5
7negative regulation of calcium ion bindingGO:190187710.8PLN, SLN
8positive regulation of cardioblast differentiationGO:05189110.8GATA6, NKX2-5
9negative regulation of calcium ion transmembrane transporter activityGO:190102010.8SLN, PLN
10heart loopingGO:00194710.8NKX2-5, CITED2, ZIC3
11positive regulation of transcription from RNA polymerase II promoterGO:04594410.8TDGF1, NKX2-5, CITED2, GATA6, ZIC3, JAG1
12negative regulation of calcium ion importGO:09028110.8PLN, SLN
13cardiac septum morphogenesisGO:06041110.8HEY2, JAG1
14pulmonary valve morphogenesisGO:00318410.8JAG1, HEY2
15Notch signaling involved in heart developmentGO:06131410.7JAG1, HEY2
16negative regulation of cardiac muscle cell apoptotic processGO:01066710.7HEY2, NKX2-5
17ventricular trabecula myocardium morphogenesisGO:00322210.7HEY2, NKX2-5
18atrial septum morphogenesisGO:06041310.7HEY2, 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:05114510.6HEY2, GATA6
25positive regulation of cardiac muscle cell proliferationGO:06004510.6GATA6, HEY2
26heart developmentGO:00750710.5TDGF1, ADAP2, CITED2
27regulation of calcium ion transportGO:05192410.4SLN, PLN
28negative regulation of transcription, DNA-dependentGO:04589210.4HEY2, GATA6, CITED2, NKX2-5
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

Sources for Congenital Heart Defect

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet