CCHD
MCID: CRT057
MIFTS: 20

Critical Congenital Heart Disease (CCHD) malady

Endocrine category

Summaries for Critical Congenital Heart Disease

Sources:
21Genetics Home Reference, 33MalaCards
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Genetics Home Reference:21 Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.

MalaCards: Critical Congenital Heart Disease, also known as thyroid hormone plasma membrane transport defect, is related to thyroid hormone plasma membrane transport defect and patent foramen ovale. Affiliated tissues include brain, heart and thyroid.

Aliases & Classifications for Critical Congenital Heart Disease

Sources:
21Genetics Home Reference, 61UMLS
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Classifications:

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


Aliases & Descriptions:

critical congenital heart disease 21
thyroid hormone plasma membrane transport defect 61
critical congenital heart defects 21
cchd 21


Related Diseases for Critical Congenital Heart Disease

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Critical Congenital Heart Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1thyroid hormone plasma membrane transport defect10.6
2patent foramen ovale10.4
3glanzmann's thrombasthenia10.4
4takayasu's arteritis10.4
5atrioventricular septal defect10.4
6congenital diaphragmatic hernia10.4
7atrial heart septal defect10.4
8urea cycle disorder10.4
9hereditary folate malabsorption10.4
10zap70-related severe combined immunodeficiency10.4
11acro-pectoro-renal field defect10.4
12ankle defects short stature10.4
13axial mesodermal dysplasia spectrum10.4
14branchial arch defects10.4
15cardioskeletal syndrome kuwaiti type10.4
16sacral defect with anterior meningocele10.4
17caudal regression syndrome10.4
18chylomicron retention disease10.4
19x-linked creatine deficiency10.4
20cystinosis, ocular nonnephropathic10.4
21hmg coa lyase deficiency10.4
22imerslund-grasbeck syndrome10.4
23defective apolipoprotein b-10010.4
24diaphragmatic hernia upper limb defects10.4
25peroxisome disorders10.4
26heart defect, tongue hamartoma and polysyndactyly10.4
27hermansky pudlak syndrome 210.4
28heterotaxy10.4
29red cell phospholipid defect with hemolysis10.4
30hyperthermia induced defects10.4
31lateral body wall defect10.4
32laterality defects dominant10.4
33limb reduction defect10.4
34overgrowth radial ray defect arthrogryposis10.4
35paraomphalocele10.4
36reductional transverse limb defects10.4
37renal agenesis meningomyelocele mullerian defect10.4
38trigonomacrocephaly tibial defect polydactyly10.4
39thyroid hormonogenesis defect i10.4
40combined oxidative phosphorylation deficiency 210.4
41combined oxidative phosphorylation deficiency 510.4
42combined oxidative phosphorylation deficiency 410.4
43combined oxidative phosphorylation deficiency 710.4
44combined oxidative phosphorylation deficiency 810.4
45combined oxidative phosphorylation deficiency 1010.4
46abdominal wall defect10.4
47heart block, progressive, type ia10.4
48combined oxidative phosphorylation deficiency 910.4
49congenital heart defects, nonsyndromic, 210.4
50robinow syndrome, autosomal recessive10.4

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



Diseases related to critical congenital heart disease

Clinical Features for Critical Congenital Heart Disease

Drugs & Therapeutics for Critical Congenital Heart Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Critical Congenital Heart Disease

Drug clinical trials:

Search ClinicalTrials for Critical Congenital Heart Disease

Search NIH Clinical Center for Critical Congenital Heart Disease

Search CenterWatch for Critical Congenital Heart Disease

Genetic Tests for Critical Congenital Heart Disease

Anatomical Context for Critical Congenital Heart Disease

Sources:
33MalaCards
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MalaCards organs/tissues related to Critical Congenital Heart Disease:

33
Brain, Heart, Thyroid, Fetal brain

Animal Models for Critical Congenital Heart Disease or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Critical Congenital Heart Disease

Sources:
51PubMed
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Articles related to Critical Congenital Heart Disease:

(show top 50)    (show all 62)
idTitleAuthorsYear
1
Implementation of critical congenital heart disease screening in Minnesota. (23958775)
2013
2
Hospitalizations, costs, and mortality among infants with critical congenital heart disease: how important is timely detection? (24000201)
2013
3
Oxygen saturation nomogram in newborns screened for critical congenital heart disease. (23690522)
2013
4
Pulse oximetry screening for critical congenital heart disease in neonatal intensive care units. (23897309)
2013
5
Newborn oxygen saturation at mild altitude versus sea level: implications for neonatal screening for critical congenital heart disease. (23298328)
2013
6
Cost-effectiveness of routine screening for critical congenital heart disease in US newborns. (23918890)
2013
7
Specialized delivery room planning for fetuses with critical congenital heart disease. (23291087)
2013
8
Implementing recommended screening for critical congenital heart disease. (23776113)
2013
9
Screening for critical congenital heart disease: a matter of sensitivity. (23179425)
2013
10
Evaluating the diagnostic gap: statewide incidence of undiagnosed critical congenital heart disease before newborn screening with pulse oximetry. (23595939)
2013
11
Neonatal pulse oximetry screening improves detecting of critical congenital heart disease. (23876906)
2013
12
Pulse oximetry screening for critical congenital heart disease in the newborn. (24308092)
2013
13
Unplanned reinterventions are associated with postoperative mortality in neonates with critical congenital heart disease. (22578897)
2013
14
Factors associated with late detection of critical congenital heart disease in newborns. (23940249)
2013
15
Critical congenital heart disease screening using pulse oximetry. (23266220)
2013
16
Regional implementation of newborn screening for critical congenital heart disease screening in Abu Dhabi. (23532467)
2013
17
The importance of small for gestational age in the risk assessment of infants with critical congenital heart disease. (24401264)
2013
18
Confirming the value of pulse oximetry screening for diagnosing critical congenital heart disease. (23086388)
2013
19
Pulse-Oximetry Screening to Detect Critical Congenital Heart Disease in the Neonatal Intensive Care Unit. (24026810)
2013
20
Brain injury and development in newborns with critical congenital heart disease. (23771484)
2013
21
B-type natriuretic peptide in the recognition of critical congenital heart disease in the newborn infant. (22858747)
2012
22
Critical congenital heart disease--utility of routine screening for chromosomal and other extracardiac malformations. (22070653)
2012
23
Misinterpretation of negative pulse oximetry screening as absence of critical congenital heart disease. (22915141)
2012
24
Screening for critical congenital heart disease: advancing detection in the newborn. (22935755)
2012
25
Newborn screening for critical congenital heart disease: potential roles of birth defects surveillance programs--United States, 2010-2011. (23095953)
2012
26
Endorsement of Health and Human Services recommendation for pulse oximetry screening for critical congenital heart disease. (22201143)
2012
27
Newborn screening for critical congenital heart disease: essential public health roles for birth defects monitoring programs. (23184496)
2012
28
Outcomes and risk factors for mortality in premature neonates with critical congenital heart disease. (21713439)
2011
29
Strategies for implementing screening for critical congenital heart disease. (21987707)
2011
30
Pulse oximetry screening for detection of critical congenital heart disease in newborns: a survey of current practices in the United Kingdom. (21166863)
2011
31
Effectiveness of neonatal pulse oximetry screening for detection of critical congenital heart disease in daily clinical routine--results from a prospective multicenter study. (20195633)
2010
32
Left ventricle to right ventricle size discrepancy in the fetus: the presence of critical congenital heart disease can be reliably predicted. (19815386)
2009
33
Association of socioeconomic position and medical insurance with fetal diagnosis of critical congenital heart disease. (20031861)
2009
34
A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomal-dominant inherited congenital heart disease. (17891520)
2008
35
Missed diagnosis of critical congenital heart disease. (18838650)
2008
36
Interventional therapy for neonates with critical congenital heart disease. (18942127)
2008
37
Epidemiologic features of the presentation of critical congenital heart disease: implications for screening. (18381540)
2008
38
Report of the Tennessee Task Force on Screening Newborn Infants for Critical Congenital Heart Disease. (17015513)
2006
39
Indications and limitations for a neonatal pulse oximetry screening of critical congenital heart disease. (16238542)
2005
40
Oxygen saturation as a screening test for critical congenital heart disease: a preliminary study. (12170356)
2002
41
Recognition, stabilization, and early management of infants with critical congenital heart disease presenting in the first days of life. (7630330)
1995
42
Combining clinical judgement and statistical data in expert systems: over-the-telephone management decisions for critical congenital heart disease in the first month of life. (2687420)
1989
43
The neonate with critical congenital heart disease: a surgical challenge. (4072230)
1985
44
Effects of prostaglandin E1 infusion in the pre-operative management of critical congenital heart disease. (4040664)
1985
45
Prostaglandin E1 in infants with critical congenital heart disease. (2454319)
1985
46
Critical congenital heart disease. (6729643)
1984
47
Prostaglandin E1 in neonates with critical congenital heart disease. (6183249)
1982
48
The determinants of five year survival of infants with critical congenital heart disease. (7214385)
1981
49
Demography of critical congenital heart disease. (4713557)
1973
50
Recognition and diagnosis of the infant with critical congenital heart disease. (5508988)
1970

Genetic Variations for Critical Congenital Heart Disease

Expression for genes affiliated with Critical Congenital Heart Disease

Sources:
15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Critical Congenital Heart Disease.

Pathways for genes affiliated with Critical Congenital Heart Disease

Compounds for genes affiliated with Critical Congenital Heart Disease

GO Terms for genes affiliated with Critical Congenital Heart Disease

Products for genes affiliated with Critical Congenital Heart Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Critical Congenital Heart Disease

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