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, Eye, Bone, 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, NKX2-5, GJA1, NOTCH1
2MP:00053697.8FOXC2, NKX2-5, LIPE, XDH, CDH2, GJA1
3MP:00107717.8MBTPS1, NKX2-5, LIPE, XDH, EMILIN1, GJA1
4MP:00053857.2FOXC2, BMPER, NKX2-5, LIPE, EMILIN1, CDH2
5MP:00053847.2FOXL1, NKX2-5, XDH, CDH2, GJA1, NOTCH1
6MP:00053807.0MBTPS1, FOXC2, BMPER, NKX2-5, CDH2, GDF3
7MP:00053767.0MBTPS1, FOXC2, NKX2-5, LIPE, XDH, CDH2
8MP:00053786.2SMYD1, MBTPS1, FOXC2, FOXL1, BMPER, NKX2-5
9MP:00107686.0NKX2-5, BMPER, FOXL1, FOXC2, MBTPS1, XDH

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
Mechanisms of tricuspid valve regurgitation in hypoplastic left heart syndrome: a case-matched echocardiographic-surgical comparison study. (22723622)
2013
2
Risk factors for profuse systemic-to-pulmonary artery collateral burden in hypoplastic left heart syndrome. (23642507)
2013
3
Choices doctors would make if their infant had hypoplastic left heart syndrome: comparison of survey data from 1999 and 2007. (23011191)
2013
4
Unruptured Sinus of Valsalva Aneurysm in a Neonate with Hypoplastic Left Heart Syndrome: Echocardiographic Diagnosis and Features. (24372879)
2013
5
Early outcomes from a new regional programme for the surgical management of hypoplastic left heart syndrome. (23419003)
2013
6
Technical challenges of atrial septal stent placement in fetuses with hypoplastic left heart syndrome and intact atrial septum. (23804575)
2013
7
Rapid 2-stage Norwood I for high-risk hypoplastic left heart syndrome and variants. (24128902)
2013
8
Head and neck vessel size by angiography predicts neo-aortic arch obstruction after Norwood/Sano operation for hypoplastic left heart syndrome. (23388224)
2013
9
Fifteen-year single-center experience with the Norwood operation for complex lesions with single-ventricle physiology compared with hypoplastic left heart syndrome. (22244563)
2012
10
Serial assessment of right ventricular volume and function in surgically palliated hypoplastic left heart syndrome using real-time transthoracic three-dimensional echocardiography. (22421029)
2012
11
Use of surveillance criteria reduces interstage mortality after the Norwood operation for hypoplastic left heart syndrome. (22219467)
2012
12
Hypoplastic left heart syndrome, restrictive patent foramen ovale, and pulmonary valve stenosis: an unusual combination. (21984265)
2012
13
Regional and global myocardial deformation of the fetal right ventricle in hypoplastic left heart syndrome. (22806693)
2012
14
Outcome and resource utilization of infants born with hypoplastic left heart syndrome in the Intermountain West. (22633206)
2012
15
Physician counseling, informed consent and parental decision making for infants with hypoplastic left-heart syndrome. (22678145)
2012
16
Systemic RV in hypoplastic left heart syndrome after surgical palliation. (21679907)
2011
17
Unexpected infant death due to hypoplastic left heart syndrome: a case report. (21940189)
2011
18
Outcomes of hypoplastic left heart syndrome in low-birth-weight patients. (21785995)
2011
19
Significance of the residual aortic obstruction in multistage repair of hypoplastic left heart syndrome. (21295990)
2011
20
Hypoplastic left heart syndrome in patients with Kabuki syndrome. (20725720)
2010
21
Differential changes in TGF-I^/BMP signaling pathway in the right ventricular myocardium of newborns with hypoplastic left heart syndrome. (20670841)
2010
22
Hypoplastic left heart syndrome. (20133423)
2010
23
Hypoplastic left heart syndrome. (20505182)
2010
24
Transthoracic echocardiographic assistance for interatrial stenting in low birth-weight neonates with hypoplastic left heart syndrome and intact atrial septum. (20839358)
2010
25
Combination of cor triatriatum sinistrum and hypoplastic left heart syndrome in Meckel-Gruber syndrome: a case report. (19358626)
2009
26
Neonatal bronchial reconstruction after Norwood procedure for hypoplastic left heart syndrome. (19231365)
2009
27
Staged surgical palliation in hypoplastic left heart syndrome and its variants. (19040407)
2009
28
Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve. (19298921)
2009
29
Differences in extra-cellular matrix and myocyte homeostasis between the neonatal right ventricle in hypoplastic left heart syndrome and truncus arteriosus. (18757206)
2008
30
Images in cardiovascular medicine. Intraoperative transesophageal echocardiography using a miniaturized transducer in a neonate undergoing Norwood procedure for hypoplastic left heart syndrome. (18250281)
2008
31
Fetal pulmonary venous Doppler patterns in hypoplastic left heart syndrome: relationship to atrial septal restriction. (17923465)
2008
32
Pyloromyotomy in an infant with hypoplastic left heart syndrome status-post hybrid procedure: not just another case? (18811844)
2008
33
Improving the outcome of high-risk neonates with hypoplastic left heart syndrome: hybrid procedure or conventional surgical palliation? (18261915)
2008
34
Ventricular function deteriorates with recurrent coarctation in hypoplastic left heart syndrome. (18721575)
2008
35
The systolic to diastolic duration ratio in children with hypoplastic left heart syndrome: a novel Doppler index of right ventricular function. (17543747)
2007
36
Hypoplastic left heart syndrome. (17498282)
2007
37
Formation of thrombus in a native aortic sinus of Valsalva after palliation of hypoplastic left heart syndrome. (17425818)
2007
38
A case of PAGOD syndrome with hypoplastic left heart syndrome. (16675049)
2007
39
A novel adjustable pulmonary artery banding system for hypoplastic left heart syndrome. (18036941)
2007
40
New era in management of hypoplastic left heart syndrome. (17387186)
2007
41
Early postoperative outcomes in a series of infants with hypoplastic left heart syndrome undergoing stage I palliation operation with either modified Blalock-Taussig shunt or right ventricle to pulmonary artery conduit. (16474256)
2006
42
Gastrointestinal morbidity after Norwood palliation for hypoplastic left heart syndrome. (16488706)
2006
43
Extracorporeal membrane oxygenation after stage I reconstruction for hypoplastic left heart syndrome. (16738497)
2006
44
Stenting of a stenosed sano shunt in a neonate with hypoplastic left heart syndrome. (16132271)
2005
45
Portosystemic shunt with polysplenia and hypoplastic left heart syndrome. (16374696)
2005
46
A case of hypoplastic left heart syndrome and bicuspid aortic valve in monochorionic twins. (16235019)
2005
47
Prenatal sonographic features of isolated hypoplastic left heart syndrome. (16196013)
2005
48
Hypoplastic left heart syndrome: from in-utero diagnosis to school age. (16243013)
2005
49
Outcome of right ventricle-to-pulmonary artery shunt in first-stage palliation of hypoplastic left heart syndrome: a multi-institutional study. (15561007)
2004
50
Hypoplastic left heart syndrome with restrictive atrial septal defect: influence on cardiac transplantation. (15493071)
2004

Genetic Variations for Hypoplastic Left Heart Syndrome

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Expression for genes affiliated with Hypoplastic Left Heart Syndrome

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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