HLHS
MCID: HYP055
MIFTS: 56

Hypoplastic Left Heart Syndrome (HLHS) malady

Cardiovascular diseases category

Summaries for Hypoplastic Left Heart Syndrome

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Hypoplastic left heart syndrome (hlhs) is a problem with the heart’s structure that is present at birth (congenital). it occurs when parts of the left side of the heart (mitral valve, left ventricle, aortic valve, and aorta) do not develop completely. the underdeveloped left side of the heart is unable to provide enough blood flow to the body, which decreases the oxygen-rich blood supply. babies with hlhs might look normal at birth, but will develop symptoms of hlhs within a few days. these symptoms might include: poor feeding, problems breathing, pounding heart, weak pulse, and ashen or bluish skin color. the cause of hlhs is presently unknown. last updated: 7/21/2011

MalaCards: Hypoplastic Left Heart Syndrome, also known as HLHS, is related to hypertension and congenital heart defect. An important gene associated with Hypoplastic Left Heart Syndrome is GJA1 (gap junction protein, alpha 1, 43kDa), and among its related pathways are N-cadherin signaling events and Cell adhesion Endothelial cell contacts by junctional mechanisms. The drug alprostadil and the compounds carvedilol and nitric oxide have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and liver, and related mouse phenotypes are craniofacial and muscle.

Wikipedia:63 Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect in which the left ventricle of... more...

Description from OMIM:46 241550

Aliases & Classifications for Hypoplastic Left Heart Syndrome

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 30LifeMap Discovery™, 60UMLS, 56SNOMED-CT, 46OMIM, 27ICD9CM, 34MeSH, 25ICD10
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Classifications:

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


Aliases & Descriptions:

hypoplastic left heart syndrome 8 42 20 22 10 30 60
hlhs 42


External Ids:

Disease Ontology8 DOID:9955
OMIM46 241550
ICD9CM27 746.7
SNOMED-CT56 62067003
MeSH34 D018636
ICD1025 Q23.4

Related Diseases for Hypoplastic Left Heart Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Hypoplastic Left Heart Syndrome family:

Hypoplastic Left Heart Syndrome 2 Hypoplastic Left Heart Syndrome 1

Diseases related to Hypoplastic Left Heart Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1hypertension30.2ERAS, NOTCH1
2congenital heart defect30.2GJA1, CDH2, NKX2-5
3image syndrome10.8
4hemophagocytic lymphohistiocytosis10.6
5heart aneurysm10.6
6hypoplastic left heart syndrome 110.6
7cerebritis10.5
8hypoplastic left heart syndrome 210.5
9kabuki syndrome10.4
10microcephaly10.3
11adult syndrome10.3
12aortic valve stenosis10.3
13atrial heart septal defect10.3
14heart septal defect10.3
15pulmonary valve stenosis10.3
16holt-oram syndrome10.3
17hemophagocytic lymphohistiocytosis, familial10.2
18coronary artery disease10.2
19periventricular leukomalacia10.2
20patent foramen ovale10.2
21biliary atresia10.2
22noonan syndrome10.2
23wolf-hirschhorn syndrome10.2
24superior mesenteric artery syndrome10.2
25west syndrome10.2
26good syndrome10.2
27endocardial fibroelastosis10.2
28dissecting aortic aneurysm10.2
29protein-losing enteropathy10.2
30bronchitis10.2
31situs inversus10.2
32muscular atrophy10.2
33scimitar syndrome10.2
34hirschsprung's disease10.2
35congenital diaphragmatic hernia10.2
36n syndrome10.2
37meckel syndrome10.2
38aortic aneurysm10.2
39aortic disease10.2
40coronary stenosis10.2
41liver disease10.2
42pseudohermaphroditism10.2
43ruptured aortic aneurysm10.2
44spinal muscular atrophy10.2
45charge syndrome10.2
46peters plus syndrome10.2
47hypoplastic right heart syndrome10.2
48left ventricular outflow tract obstruction10.2
49ventricular septal defect 310.2
50aortic valve disease10.2

Graphical network of the top 20 diseases related to Hypoplastic Left Heart Syndrome:



Diseases related to hypoplastic left heart syndrome

Clinical Features for Hypoplastic Left Heart Syndrome

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46OMIM
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Clinical features from OMIM:

241550

Drugs & Therapeutics for Hypoplastic Left Heart Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Hypoplastic Left Heart Syndrome

Drug clinical trials:

Search ClinicalTrials for Hypoplastic Left Heart Syndrome

Search NIH Clinical Center for Hypoplastic Left Heart Syndrome

Search CenterWatch for Hypoplastic Left Heart Syndrome

Inferred drug relations via UMLS60/NDF-RT40:

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Hypoplastic Left Heart Syndrome cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Hypoplastic Left Heart Syndrome:
Cardiac progenitor cells for single-ventricle anomalies
Embryonic/Adult Cultured Cells Related to Hypoplastic Left Heart Syndrome:
Cardiac progenitor cells, PMIDs: 18754813, 17502484, 14530411
Cardiac stem cells, PMIDs: 18754813, 17502484, 14530411

Genetic Tests for Hypoplastic Left Heart Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Hypoplastic Left Heart Syndrome:

id Genetic test Affiliating Genes
1 Hypoplastic Left Heart Syndrome20 22 GJA1

Anatomical Context for Hypoplastic Left Heart Syndrome

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32MalaCards
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MalaCards organs/tissues related to Hypoplastic Left Heart Syndrome:

32
Heart, Skin, Liver, Lung, Bone, Eye, Uterus

Animal Models for Hypoplastic Left Heart Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hypoplastic Left Heart Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.2MBTPS1, FOXC2, BMPER, GJA1, NOTCH1, NKX2-5
2MP:00053697.8NOTCH1, FOXC2, SMYD1, GJA1, CDH2, LIPE
3MP:00107717.8GJA1, NOTCH1, XDH, NKX2-5, MBTPS1, LIPE
4MP:00053857.2NKX2-5, LIPE, NOTCH1, EMILIN1, CDH2, GJA1
5MP:00053847.2NOTCH1, SMYD1, GJA1, CDH2, XDH, FOXL1
6MP:00053807.0GDF3, MBTPS1, FOXC2, BMPER, NKX2-5, CDH2
7MP:00053767.0NOTCH1, CDH2, GJA1, GDF3, MBTPS1, XDH
8MP:00053786.2MBTPS1, GDF3, CDH2, XDH, LIPE, NKX2-5
9MP:00107686.0GDF3, CDH2, XDH, NKX2-5, BMPER, FOXL1

Publications for Hypoplastic Left Heart Syndrome

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50PubMed
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Articles related to Hypoplastic Left Heart Syndrome:

(show top 50)    (show all 517)
idTitleAuthorsYear
1
Prenatal diagnosis of Potocki-Lupski syndrome in a fetus with hypoplastic left heart and aberrant right subclavian artery. (23624966)
2013
2
Catheter interventions in the staged management of hypoplastic left heart syndrome. (23391024)
2013
3
A 10-year single-centre experience in percutaneous interventions for multi-stage treatment of hypoplastic left heart syndrome. (23402359)
2013
4
Intact right ventricle-pulmonary artery shunt after stage 2 palliation in hypoplastic left heart syndrome improves pulmonary artery growth. (23229288)
2013
5
Submicroscopic chromosomal copy number variations identified in children with hypoplastic left heart syndrome. (22349727)
2012
6
Impact of right ventricle-pulmonary artery conduit placement on pulmonary artery development after the Norwood procedure in hypoplastic left heart syndrome. (22290884)
2012
7
Successful hybrid stage I palliation for hypoplastic left heart syndrome in a developing nation. (23804700)
2012
8
Improvements in survival and neurodevelopmental outcomes in surgical treatment of hypoplastic left heart syndrome: a meta-analytic review. (23441563)
2012
9
Hypoplastic left heart syndrome, cor triatriatum and partial anomalous pulmonary venous connection: Imaging of a very rare association. (23960683)
2012
10
Perioperative cerebral and somatic oxygenation in neonates with hypoplastic left heart syndrome or transposition of the great arteries. (21450312)
2011
11
Stage II palliation of hypoplastic left heart syndrome without cardiopulmonary bypass. (21241860)
2011
12
Feeding, growth, nutrition, and optimal interstage surveillance for infants with hypoplastic left heart syndrome. (22152530)
2011
13
Population-based analysis of survival for hypoplastic left heart syndrome. (21349542)
2011
14
Neonatal surgical reconstruction and peri-operative care for hypoplastic left heart syndrome: current strategies. (22152527)
2011
15
Double shunt technique for hybrid palliation of hypoplastic left heart syndrome: a case report. (22029529)
2011
16
Reducing the incidence of necrotizing enterocolitis in neonates with hypoplastic left heart syndrome with the introduction of an enteral feed protocol. (19838139)
2010
17
A contemporary comparison of the effect of shunt type in hypoplastic left heart syndrome on the hemodynamics and outcome at Fontan completion. (20723722)
2010
18
Successful pregnancies in two women with hypoplastic left heart syndrome. (21087437)
2010
19
The hypoplastic left heart syndrome is not a risk factor for Fontan operation. (21340380)
2010
20
Impact of antenatal diagnosis of hypoplastic left heart syndrome on the clinical presentation and surgical outcomes: the Australian experience. (19210602)
2009
21
Hypoplastic left heart syndrome: new genetic insights. (19298922)
2009
22
Fetal pulmonary venous Doppler flow patterns in hypoplastic left heart syndrome. (18931153)
2008
23
Pathological changes and myocardial remodelling related to the mode of shunting following surgical palliation for hypoplastic left heart syndrome. (18588727)
2008
24
Neurodevelopmental outcomes after staged palliation for hypoplastic left heart syndrome. (18310195)
2008
25
Hypoplastic left heart syndrome with intact atrial septum: Utilization of a hybrid catheterization facility for cesarean section delivery and prompt neonatal intervention. (19021286)
2008
26
Hybrid therapy for hypoplastic left heart syndrome: system-wide approach is vital. (18404283)
2008
27
Transcription repression and blocks in cell cycle progression in hypoplastic left heart syndrome. (18344372)
2008
28
Hypoplastic left heart syndrome is heritable. (17936159)
2007
29
Pentalogy of Cantrell associated with hypoplastic left heart syndrome. (17563826)
2007
30
Implantation of stents to ensure an adequate interatrial communication in patients with hypoplastic left heart syndrome. (17612414)
2007
31
Hypoplastic left heart syndrome: the influence of surgical strategy on outcomes. (17533479)
2007
32
Berlin Heart ventricular assist device in a child with hypoplastic left heart syndrome. (17307489)
2007
33
Mixed venous oxygen saturation monitoring after stage 1 palliation for hypoplastic left heart syndrome. (17888987)
2007
34
Birth weight and complexity are significant factors for the management of hypoplastic left heart syndrome. (16996917)
2006
35
Impaired power output and cardiac index with hypoplastic left heart syndrome: a magnetic resonance imaging study. (16996919)
2006
36
Optimal timing of the second stage of palliation for hypoplastic left heart syndrome facilitated through home monitoring, and the results of early cavopulmonary anastomosis. (16401365)
2006
37
Repair of the tricuspid valve in hypoplastic left heart syndrome. (17378037)
2006
38
Stenting of a stenosed Sano shunt after palliation in hypoplastic left heart syndrome. (16928578)
2006
39
Pulmonary vasodilation therapy with sildenafil citrate in a patient with plastic bronchitis after the Fontan procedure for hypoplastic left heart syndrome. (17059953)
2006
40
Hypoplastic left heart syndrome. (16733515)
2006
41
Hypoplastic left heart syndrome with intact atrial septum--attempt of an interventional palliation by ductal and interatrial stent implantation. (16598520)
2006
42
Hypoplastic left heart syndrome with anomalous origin of the right coronary artery. (16368399)
2006
43
Relationship of surgical approach to neurodevelopmental outcomes in hypoplastic left heart syndrome. (16361221)
2006
44
Hypoplastic left heart syndrome and valvar pulmonary stenosis: presentation and management. (15565270)
2005
45
Hypoplastic left heart syndrome associated with left ventricle-coronary artery-pulmonary artery fistula: prenatal diagnosis and histological correlation. (15937978)
2005
46
Use of an allograft patch in repair of hypoplastic left heart syndrome may complicate future transplantation. (15784350)
2005
47
Repair in infancy of right aortic arch with aberrant left brachiocephalic artery in the setting of a variant of the hypoplastic left heart syndrome. (15680052)
2004
48
Management of infants With hypoplastic left heart syndrome integrating research in Nursing practice. (15646089)
2004
49
Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome. (12798584)
2003
50
The pharmacokinetics of injectable allopurinol in newborns with the hypoplastic left heart syndrome. (7970996)
1994

Genetic Variations for Hypoplastic Left Heart Syndrome

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Expression for genes affiliated with Hypoplastic Left Heart Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypoplastic Left Heart Syndrome

Search GEO for disease gene expression data for Hypoplastic Left Heart Syndrome.

Pathways for genes affiliated with Hypoplastic Left Heart Syndrome

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Sources:
37NCBI BioSystems Database, 12EMD Millipore
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Pathways related to Hypoplastic Left Heart Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7GJA1, CDH2
29.7GJA1, CDH2
39.1SMYD1, NOTCH1, NKX2-5, FOXC2

Compounds for genes affiliated with Hypoplastic Left Heart Syndrome

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44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Hypoplastic Left Heart Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1carvedilol44 49 28 1112.9GJA1, XDH
2nitric oxide44 11 2411.0NKX2-5, LIPE, XDH, GJA1, NOTCH1
3serine447.8MBTPS1, NKX2-5, LIPE, CDH2, GJA1, NOTCH1
4lipid447.8NOTCH1, GJA1, CDH2, XDH, LIPE, FOXC2

GO Terms for genes affiliated with Hypoplastic Left Heart Syndrome

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16Gene Ontology
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Cellular components related to Hypoplastic Left Heart Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intercalated discGO:0147049.7GJA1, CDH2
2fascia adherensGO:0059169.4GJA1, CDH2

Biological processes related to Hypoplastic Left Heart Syndrome according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1glomerular mesangial cell developmentGO:07214410.2FOXC2, NOTCH1
2negative regulation of myotube differentiationGO:01083210.1NKX2-5, NOTCH1
3ventricular trabecula myocardium morphogenesisGO:00322210.1NKX2-5, NOTCH1
4cardiac muscle tissue morphogenesisGO:05500810.1NOTCH1, NKX2-5
5embryonic heart tube developmentGO:03505010.1FOXC2, NKX2-5
6adult heart developmentGO:00751210.0NKX2-5, GJA1
7heart loopingGO:00194710.0NOTCH1, GJA1, NKX2-5
8cardiac muscle cell proliferationGO:06003810.0NOTCH1, NKX2-5, FOXC2
9mesoderm developmentGO:00749810.0GDF3, FOXC2
10blood vessel morphogenesisGO:0485149.8CDH2, GJA1
11ventricular septum morphogenesisGO:0604129.8NOTCH1, NKX2-5
12negative regulation of canonical Wnt receptor signaling pathwayGO:0900909.6NOTCH1, CDH2, NKX2-5
13endoderm developmentGO:0074929.6NOTCH1, GDF3
14heart developmentGO:0075079.1SMYD1, NOTCH1, GJA1, FOXL1, FOXC2

Molecular functions related to Hypoplastic Left Heart Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcriptionGO:0011909.8NOTCH1, NKX2-5
2chromatin DNA bindingGO:0314909.6NOTCH1, FOXC2
3sequence-specific DNA bindingGO:0435659.4NOTCH1, NKX2-5, FOXL1, FOXC2

Products for genes affiliated with Hypoplastic Left Heart Syndrome

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Sources for Hypoplastic Left Heart Syndrome

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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