HLHS
MCID: HYP055
MIFTS: 62

Hypoplastic Left Heart Syndrome (HLHS) malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Fetal diseases categories

Summaries for Hypoplastic Left Heart Syndrome

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 hypoplastic left heart syndrome 1 and congenital heart disease. An important gene associated with Hypoplastic Left Heart Syndrome is GJA1 (gap junction protein, alpha 1, 43kDa), and among its related pathways are Cell adhesion Endothelial cell contacts by junctional mechanisms and N-cadherin signaling events. The drug alprostadil and the compounds carvedilol and ethidium bromide have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and liver, and related mouse phenotypes are pigmentation and no phenotypic analysis.

Wikipedia:66 Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect in which the left ventricle of... more...

Description from OMIM:48 241550

Aliases & Classifications for Hypoplastic Left Heart Syndrome

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 21GeneTests, 23GTR, 11DISEASES, 32LifeMap Discovery™, 63UMLS, 28ICD9CM, 36MeSH, 48OMIM, 59SNOMED-CT, 26ICD10
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Related Diseases for Hypoplastic Left Heart Syndrome

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18GeneCards, 19GeneDecks
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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 79)
idRelated DiseaseScoreTop Affiliating Genes
1hypoplastic left heart syndrome 131.1GJA1
2congenital heart disease30.7GJA1, NKX2-5
3hemophagocytic lymphohistiocytosis10.6
4aneurysm10.6
5cerebritis10.6
6cor triatriatum10.5
7transposition of the great arteries10.5
8hypoplastic left heart syndrome 210.5
9right aortic arch10.5
10kabuki syndrome10.4
11microcephaly10.4
12aortic valve stenosis10.4
13pulmonary valve stenosis10.4
14holt-oram syndrome10.4
15left ventricular outflow tract obstruction10.4
16omphalocele10.4
17hemophagocytic lymphohistiocytosis, familial10.2
18coronary artery disease10.2
19endocardial fibroelastosis10.2
20protein-losing enteropathy10.2
21bronchitis10.2
22situs inversus10.2
23muscular atrophy10.2
24scimitar syndrome10.2
25hirschsprung's disease10.2
26patent foramen ovale10.2
27biliary atresia10.2
28noonan syndrome10.2
29wolf-hirschhorn syndrome10.2
30periventricular leukomalacia10.2
31aortic aneurysm10.2
32aortic valve disease10.2
33artery disease10.2
34hypertension10.2
35pseudohermaphroditism10.2
36spinal muscular atrophy10.2
37peters plus syndrome10.2
38alveolar capillary dysplasia10.2
39hydrops fetalis10.2
40hypoplastic right heart syndrome10.2
41leukomalacia10.2
42moebius syndrome10.2
43pagod syndrome10.2
44pentalogy of cantrell10.2
45tracheoesophageal fistula10.2
46tricuspid atresia10.2
47twin twin transfusion syndrome10.2
48thromboembolism10.2
49ventricular septal defect 310.2
50shone complex10.2

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



Diseases related to hypoplastic left heart syndrome

Symptoms for Hypoplastic Left Heart Syndrome

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48OMIM
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Clinical features from OMIM:

241550

Drugs & Therapeutics for Hypoplastic Left Heart Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap Discovery™, 63UMLS, 42NDF-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 UMLS63/NDF-RT42:

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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21GeneTests, 23GTR
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Genetic tests related to Hypoplastic Left Heart Syndrome:

id Genetic test Affiliating Genes
1 Hypoplastic Left Heart Syndrome21 23 GJA1

Anatomical Context for Hypoplastic Left Heart Syndrome

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34MalaCards
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MalaCards organs/tissues related to Hypoplastic Left Heart Syndrome:

34
Heart, Skin, Liver, Lung, Bone, Uterus, Eye

Animal Models for Hypoplastic Left Heart Syndrome or affiliated genes

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38MGI
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Publications for Hypoplastic Left Heart Syndrome

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53PubMed
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Articles related to Hypoplastic Left Heart Syndrome:

(show top 50)    (show all 500)
idTitleAuthorsYear
1
Cardiac troponin I, cardiac troponin-specific autoantibodies and natriuretic peptides in children with hypoplastic left heart syndrome. (24101702)
2014
2
Impaired cerebral perfusion after bilateral pulmonary arterial banding in patients with hypoplastic left heart syndrome. (23993895)
2013
3
Effects of pulmonary artery banding and retrograde aortic arch obstruction on the hybrid palliation of hypoplastic left heart syndrome. (23434295)
2013
4
Abnormal Abdominal Aorta Hemodynamics Are Associated With Necrotizing Enterocolitis in Infants With Hypoplastic Left Heart Syndrome. (24154504)
2013
5
Use of computational fluid dynamics to estimate hemodynamic effects of respiration on hypoplastic left heart syndrome surgery: total cavopulmonary connection treatments. (24385870)
2013
6
QRS duration changes in patients with hypoplastic left heart syndrome undergoing hybrid palliation: prehybrid to post-Fontan. (23305551)
2013
7
Mechanisms of tricuspid valve regurgitation in hypoplastic left heart syndrome: a case-matched echocardiographic-surgical comparison study. (22723622)
2013
8
Microcephaly is associated with early adverse neurologic outcomes in hypoplastic left heart syndrome. (23575878)
2013
9
Right ventricular mechanics in the fetus with hypoplastic left heart syndrome. (23473605)
2013
10
Predictors of ductus arteriosus in-stent stenosis in the hybrid approach to hypoplastic left heart syndrome. (23064839)
2013
11
Assessment of right ventricular volumes in hypoplastic left heart syndrome by real-time three-dimensional echocardiography: comparison with cardiac magnetic resonance imaging. (23946284)
2013
12
Aortic aneurysm with a ruptured dissection in a 15-year-old boy with hypoplastic left heart syndrome. (24418664)
2013
13
Fetal hypoplastic left heart syndrome and maternal liver transplantation for Wilson's disease: a case report. (24378118)
2013
14
Clinical outcomes and resource use for infants with hypoplastic left heart syndrome during bidirectional Glenn: summary from the Joint Council for Congenital Heart Disease National Pediatric Cardiology Quality Improvement Collaborative registry. (22673966)
2013
15
Fifteen-year single-center experience with the Norwood operation for complex lesions with single-ventricle physiology compared with hypoplastic left heart syndrome. (22244563)
2012
16
Does bilateral pulmonary banding in comparison to Norwood procedure improve outcome in neonates with hypoplastic left heart syndrome beyond second-stage palliation? A review of the current literature. (22215495)
2012
17
Heart for bonding: a new protocol of care for hypoplastic left heart syndrome. (22908051)
2012
18
Changing attitudes to the management of hypoplastic left heart syndrome: a European perspective. (22152542)
2011
19
Hypoplastic left heart syndrome with intact atrial septum sequelae of left atrial hypertension in utero. (21565633)
2011
20
Systemic RV in hypoplastic left heart syndrome after surgical palliation. (21679907)
2011
21
Letter by Giardini et al regarding article, "Maladaptive aortic properties in children after palliation of hypoplastic left heart syndrome assessed by cardiovascular magnetic resonance imaging". (21576677)
2011
22
Pathology of the aortic arch in hypoplastic left heart syndrome: surgical implications. (21104077)
2011
23
Unexpected infant death due to hypoplastic left heart syndrome: a case report. (21940189)
2011
24
Reducing the incidence of necrotizing enterocolitis in neonates with hypoplastic left heart syndrome with the introduction of an enteral feed protocol. (19838139)
2010
25
Hypoplastic left heart syndrome. (20237013)
2010
26
Impact of antenatal diagnosis of hypoplastic left heart syndrome on the clinical presentation and surgical outcomes: the Australian experience. (19210602)
2009
27
Exercise capacity of a contemporary cohort of children with hypoplastic left heart syndrome after staged palliation. (19643621)
2009
28
Is "treat your child normally" helpful advice for parents of survivors of treatment of hypoplastic left heart syndrome? (19272201)
2009
29
Right ventricular performance in the fetus with hypoplastic left heart syndrome. (19324154)
2009
30
The current role of hybrid procedures in the stage 1 palliation of patients with hypoplastic left heart syndrome. (19278859)
2009
31
Hypoplastic left heart syndrome: a paradigm case for examining conscientious objection in pediatric practice. (19559290)
2009
32
Differential branch pulmonary artery growth after the Norwood procedure with right ventricle-pulmonary artery conduit versus modified Blalock-Taussig shunt in hypoplastic left heart syndrome. (19464446)
2009
33
Impact of mitral stenosis and aortic atresia on survival in hypoplastic left heart syndrome. (18498820)
2008
34
Stage I palliation for hypoplastic left heart syndrome: Norwood versus Sano modification. (17284981)
2007
35
Hypoplastic left heart syndrome is heritable. (17936159)
2007
36
The systolic to diastolic duration ratio in children with hypoplastic left heart syndrome: a novel Doppler index of right ventricular function. (17543747)
2007
37
Hypoplastic left heart syndrome with intact or highly restrictive atrial septum: surgical experience from a single center. (17643639)
2007
38
The nomenclature, definition and classification of hypoplastic left heart syndrome. (16839428)
2006
39
Rescue cardiac transplantation for failing staged palliation in patients with hypoplastic left heart syndrome. (17116269)
2006
40
Anesthetic management of tracheoesophageal fistula repair in a newborn with hypoplastic left heart syndrome. (16677272)
2006
41
The management of hypoplastic left heart syndrome with a right aortic arch. (16984705)
2006
42
Birth weight and complexity are significant factors for the management of hypoplastic left heart syndrome. (16996917)
2006
43
Novel approach to the newborn with hypoplastic left heart syndrome and intact atrial septum. (16097012)
2005
44
Hypoplastic left heart syndrome and valvar pulmonary stenosis: presentation and management. (15565270)
2005
45
Cardiac magnetic resonance imaging after stage I Norwood operation for hypoplastic left heart syndrome. (16301358)
2005
46
A Fontan completion through stage I bilateral pulmonary artery banding for hypoplastic left heart syndrome. (16256807)
2005
47
Balloon dilation of severe aortic stenosis in the fetus: potential for prevention of hypoplastic left heart syndrome: candidate selection, technique, and results of successful intervention. (15466631)
2004
48
Outcome of right ventricle-to-pulmonary artery shunt in first-stage palliation of hypoplastic left heart syndrome: a multi-institutional study. (15561007)
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
Hypoplastic left heart syndrome with right aortic arch in a newborn. (8518070)
1993

Variations for Hypoplastic Left Heart Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Hypoplastic Left Heart Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1GJA1NM_000165.3(GJA1): c.1085G> A (p.Arg362Gln)single nucleotide variantPathogenicrs2227885GRCh37Chr 6, 121769078: 121769078
2GJA1NM_000165.3(GJA1): c.1127G> A (p.Arg376Gln)single nucleotide variantPathogenicrs104893965GRCh37Chr 6, 121769120: 121769120

Expression for genes affiliated with Hypoplastic Left Heart Syndrome

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2BioGPS, 16Gene 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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51PathCards, 61Thomson Reuters, 39NCBI BioSystems Database
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Pathways related to Hypoplastic Left Heart Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8GJA1, CDH2
29.8CDH2, GJA1
39.8NOTCH1, NKX2-5
48.6NOTCH1, NKX2-5, FOXC2, SMYD1

Compounds for genes affiliated with Hypoplastic Left Heart Syndrome

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Sources:
46Novoseek, 52PharmGKB, 30IUPHAR, 12DrugBank, 62Tocris Bioscience, 3BitterDB, 25HMDB
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Compounds related to Hypoplastic Left Heart Syndrome according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1carvedilol46 52 30 1212.9GJA1, XDH
2ethidium bromide469.9GJA1, XDH
3ryanodine46 30 6211.8CDH2, GJA1
4s-nitroso-n-acetylpenicillamine469.8GJA1, XDH
5matrigel469.6GJA1, NOTCH1, CDH2
6doxycycline46 1210.5NOTCH1, GJA1
7doxorubicin46 52 1211.3XDH, GJA1, NOTCH1
8genistein46 30 62 3 25 1214.3CDH2, NOTCH1, GJA1
9nitric oxide46 25 1211.2XDH, NKX2-5, GJA1, NOTCH1
10serine468.8CDH2, MBTPS1, NOTCH1, GJA1, NKX2-5
11lipid468.3CDH2, MBTPS1, NOTCH1, GJA1, FOXC2, XDH

GO Terms for genes affiliated with Hypoplastic Left Heart Syndrome

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17Gene Ontology
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Cellular components related to Hypoplastic Left Heart Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intercalated discGO:0147049.8CDH2, GJA1
2fascia adherensGO:0059169.5CDH2, GJA1

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of myotube differentiationGO:01083210.0NKX2-5, NOTCH1
2glomerular mesangial cell developmentGO:07214410.0NOTCH1, FOXC2
3ventricular trabecula myocardium morphogenesisGO:0032229.9NKX2-5, NOTCH1
4embryonic heart tube developmentGO:0350509.9NKX2-5, FOXC2
5cardiac muscle tissue morphogenesisGO:0550089.9NOTCH1, NKX2-5
6ventricular septum morphogenesisGO:0604129.8NOTCH1, NKX2-5
7camera-type eye developmentGO:0430109.8FOXC2, FOXL1
8cardiac muscle cell proliferationGO:0600389.7FOXC2, NKX2-5, NOTCH1
9negative regulation of canonical Wnt signaling pathwayGO:0900909.6CDH2, NOTCH1, NKX2-5
10heart loopingGO:0019479.5NOTCH1, NKX2-5
11skeletal muscle cell differentiationGO:0359149.1NOTCH1, SMYD1
12negative regulation of transcription, DNA-templatedGO:0458928.9NOTCH1, NKX2-5, SMYD1
13heart developmentGO:0075078.6NOTCH1, GJA1, FOXL1, FOXC2, SMYD1

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

idNameGO IDScoreTop Affiliating Genes
1DNA binding, bendingGO:0083019.8FOXL1, FOXC2
2RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcriptionGO:0011909.8NOTCH1, NKX2-5
3chromatin DNA bindingGO:0314909.6FOXC2, NOTCH1
4sequence-specific DNA bindingGO:0435659.2NOTCH1, NKX2-5, FOXL1, FOXC2
5sequence-specific DNA binding transcription factor activityGO:0037008.8NOTCH1, 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet