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 captopril and enalapril 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, 63Wikipedia, 22GTR, 10DISEASES, 44Novoseek, 33MedlinePlus, 60UMLS, 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 disease 8 10
heart failure 44 33
thyroid hormone plasma membrane transport defect 60
congenital anomaly of heart 8
heart defects congenital 44
congestive heart failure 60
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:000536910.5SLN, COL6A1, DTNA, CASQ1, PLN, GATA6
3MP:000538010.5SLC19A1, TDGF1, GDF1, HEY2, ZIC3, CITED2
4MP:000537810.5CITED2, GDF1, NKX2-5, MTRR, GATA6, ZIC3
5MP:001076810.4SLC19A1, DTNA, GDF1, PLN, TDGF1, NKX2-5
6MP:000538810.4HEY2, GATA6, CITED2, NKX2-5, GDF1, ZIC3
7MP:000538210.4HEY2, JAG1, CITED2, NKX2-5, GDF1, ZIC3
8MP:000537010.3ZIC3, JAG1, GATA6, GDF1, SLC19A1, HEY2
9MP:000287310.1CITED2, ZIC3, JAG1, GATA6, 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
Congenital heart defects in Kabuki syndrome. (23558868)
2013
2
Placement of implantable cardioverter-defibrillators in paediatric and congenital heart defect patients: A pipeline for model generation and simulation prediction of optimal configurations. (23798492)
2013
3
Ability of the tricuspid annular peak systolic velocity (S') to detect systolic right ventricular impairment after congenital heart defect surgery in pediatric patients. (23430322)
2013
4
Health-related quality of life compared with cardiopulmonary exercise testing at the midterm follow-up visit after tetralogy of Fallot repair: a study of the German competence network for congenital heart defects. (23263026)
2013
5
Partial monosomy 3p (3p26.2 --> pter) and partial trisomy 5q (5q34 --> qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay. (23072190)
2012
6
Lung remodeling in a porcine model of cyanotic congenital heart defect with decreased pulmonary blood flow. (22888850)
2012
7
Objectively assessed physical activity and sedentary behaviour does not differ between children and adolescents with and without a congenital heart defect: a pilot examination. (21729504)
2012
8
Increased frequency of congenital heart defects in Menkes disease. (22134099)
2012
9
Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China. (22911601)
2012
10
ALK2 mutation in a patient with Down's syndrome and a congenital heart defect. (21248739)
2011
11
Human herpes virus 6 causing myocarditis in a fetus: an infectious cause to a congenital heart defect. (21450753)
2011
12
Maternal alcohol drinking pattern during pregnancy and the risk for an offspring with an isolated congenital heart defect and in particular a ventricular septal defect or an atrial septal defect. (21591246)
2011
13
New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect. (22002884)
2011
14
Second trimester serum predictors of congenital heart defects in pregnancies without chromosomal or neural tube defects. (21351282)
2011
15
Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome. (20718043)
2010
16
Ebstein's anomaly: a complex congenital heart defect. (19606562)
2009
17
Congenital hypothyroidism associated with neonatal tooth, Pierre-Robin syndrome and congenital heart defects. (20020575)
2009
18
Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia). (19357119)
2009
19
Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature. (18266240)
2008
20
The influence of trisomy 21 on the incidence and severity of congenital heart defects in patients with duodenal atresia. (18512061)
2008
21
Methionine synthase reductase deficiency results in adverse reproductive outcomes and congenital heart defects in mice. (18413293)
2008
22
Agitated saline contrast echocardiography to diagnose a congenital heart defect in a dog. (19010756)
2008
23
Genetic and lifestyle factors related to the periconception vitamin B12 status and congenital heart defects: a Dutch case-control study. (18226574)
2008
24
Oral teratoma, dextrocardia, and congenital heart defect: a nonrandom association or serendipity? (18388792)
2008
25
Pulmonary arterial hypertension in adults born with a heart septal defect: the Euro Heart Survey on adult congenital heart disease. (17164490)
2007
26
Homocysteine concentrations and molecular analysis in patients with congenital heart defects. (17227731)
2007
27
The MTHFR 677C->T polymorphism and the risk of congenital heart defects: a literature review and meta-analysis. (17965089)
2007
28
SERCA2a, phospholamban, sarcolipin, and ryanodine receptors gene expression in children with congenital heart defects. (17515962)
2007
29
Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome. (17641779)
2007
30
Maternal MTHFR 677C>T is a risk factor for congenital heart defects: effect modification by periconceptional folate supplementation. (16524890)
2006
31
Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome? (17041938)
2006
32
Heparin-induced thrombocytopenia type II in an infant with a congenital heart defect--anticoagulation during cardiopulmonary bypass with epoprostenol sodium and heparin. (16738494)
2006
33
Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries. (16059940)
2005
34
Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval. (16138909)
2005
35
Posterior descending coronary artery flow reserve assessment by Doppler echocardiography in children with and without congenital heart defect: comparison with invasive technique. (15793624)
2004
36
Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. (14681828)
2004
37
Deadly defects. Managing the pediatric patient with a congenital heart defect. (12889426)
2003
38
Transthoracic intracardiac catheters in pediatric patients recovering from congenital heart defect surgery: associated complications and outcomes. (10966285)
2000
39
A case of craniofacial dysmorphism, congenital heart defects, coccygeal skin folds, generalized skeletal alterations, and hemihypertrophy with linear skin hypopigmentation: a new syndrome? (9610002)
1998
40
Thirty-year incidence of infective endocarditis after surgery for congenital heart defect. (9486754)
1998
41
Development of a lethal congenital heart defect in the splotch (Pax3) mutant mouse. (9463628)
1997
42
The atrioventricular canal defect is the congenital heart disease connecting short rib-polydactyly and oral-facial-digital syndromes. (8986290)
1997
43
Congenital heart defect and conductive hypoacusia in a patient with the KBG syndrome. (9001820)
1996
44
Interstitial deletion of 8q21-->22 associated with minor anomalies, congenital heart defect, and Dandy-Walker variant. (7747796)
1995
45
Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies. (7943045)
1994
46
PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects. (8279476)
1993
47
Intramyocardial air causes right ventricular dysfunction after repair of a congenital heart defect. (2240658)
1990
48
Dandy-Walker syndrome associated with congenital heart defects: report of three cases. (1060596)
1975
49
A new case of the trisomy 9P syndrome. Report of a patient with unusual chromosome findings (46,XX/47,XX, + i (9p) and a peculiar congenital heart defect. (1132161)
1975
50
Congenital heart disease and upper extremity defects. A case report (Holt-Oram syndrome). (4266176)
1973

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
210.4GATA6, NKX2-5, HEY2
310.4JAG1, PLN, TDGF1
410.4JAG1, TDGF1, NKX2-5, GATA6

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:06115610.8JAG1, 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
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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