HLHS
MCID: HYP055
MIFTS: 55

Hypoplastic Left Heart Syndrome (HLHS) malady

Cardiovascular category

Summaries for Hypoplastic Left Heart Syndrome

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 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 n syndrome and arc syndrome. 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 skin, liver and lung, and related mouse phenotypes are craniofacial and muscle.

Wikipedia:64 Hypoplastic left heart syndrome (HLHS), is a rare congenital heart defect in which the left ventricle of... more...

Description from OMIM:47 241550

Aliases & Classifications for Hypoplastic Left Heart Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 31LifeMap Discovery™, 61UMLS, 57SNOMED-CT, 47OMIM, 27ICD9CM, 35MeSH, 25ICD10
See all sources

Classifications:

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


Aliases & Descriptions:

hypoplastic left heart syndrome 8 43 20 22 10 31 61
hlhs 43


External Ids:

Disease Ontology8 DOID:9955
OMIM47 241550
ICD9CM27 746.7
SNOMED-CT57 62067003
MeSH35 D018636
ICD1025 Q23.4

Related Diseases for Hypoplastic Left Heart Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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 83)
idRelated DiseaseScoreTop Affiliating Genes
1n syndrome11.2
2arc syndrome10.8
3hypoplastic left heart syndrome 210.7
4hypoplastic left heart syndrome 110.7
5conn's syndrome10.6
6tau syndrome10.6
7hemophagocytic lymphohistiocytosis10.6
8heart aneurysm10.6
9mitral atresia10.5
10kabuki syndrome10.4
11image syndrome10.4
12microcephaly10.3
13adult syndrome10.3
14aortic valve stenosis10.3
15atrial heart septal defect10.3
16micro syndrome10.3
17char syndrome10.3
18holt-oram syndrome10.3
19left ventricular outflow tract obstruction10.3
20cant� syndrome10.3
21omphalocele10.3
22hemophagocytic lymphohistiocytosis, familial10.2
23coronary artery disease,10.2
24periventricular leukomalacia10.2
25patent foramen ovale10.2
26biliary atresia10.2
27noonan syndrome10.2
28wolf-hirschhorn syndrome10.2
29superior mesenteric artery syndrome10.2
30west syndrome10.2
31good syndrome10.2
32endocardial fibroelastosis10.2
33protein-losing enteropathy10.2
34bronchitis10.2
35situs inversus10.2
36muscular atrophy10.2
37scimitar syndrome10.2
38wilson disease10.2
39hirschsprung's disease10.2
40congenital diaphragmatic hernia10.2
41meckel syndrome10.2
42aortic aneurysm10.2
43aortic disease10.2
44spinal muscular atrophy10.2
45wolf–hirschhorn syndrome10.2
46charge syndrome10.2
47moebius syndrome10.2
48pagod syndrome10.2
49alveolar capillary dysplasia10.2
50aortic coarctation10.2

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

Sources:
47OMIM
See all sources

Clinical features from OMIM:

241550

Drugs & Therapeutics for Hypoplastic Left Heart Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
See all sources

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 UMLS61/NDF-RT41:

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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Hypoplastic Left Heart Syndrome:

33
Skin, Liver, Lung, Uterus, Bone marrow, Heart, Cardiac myocytes, Fetal liver, Fetal lung

Animal Models for Hypoplastic Left Heart Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Hypoplastic Left Heart Syndrome

Sources:
51PubMed
See all sources

Articles related to Hypoplastic Left Heart Syndrome:

(show top 50)    (show all 517)
idTitleAuthorsYear
1
Percutaneous Coronary Intervention in a Three Year-Old with Hypoplastic Left Heart Syndrome. (24399618)
2014
2
Impact of afterload reduction strategies on regional tissue oxygenation after the Norwood procedure for hypoplastic left heart syndrome. (24321991)
2014
3
Effects of pulmonary artery banding and retrograde aortic arch obstruction on the hybrid palliation of hypoplastic left heart syndrome. (23434295)
2013
4
Microcephaly is associated with early adverse neurologic outcomes in hypoplastic left heart syndrome. (23575878)
2013
5
Computational modelling to optimize the hybrid configuration for hypoplastic left heart syndrome. (23487529)
2013
6
Left mammary artery bypass grafting rescued a patient with hypoplastic left heart syndrome with ascending aorta obstruction after norwood stage I procedure. (24327498)
2013
7
Incidence of Tracheobronchial Anomalies Found with Hypoplastic Left Heart Syndrome. (24102744)
2013
8
Nutrition algorithms for infants with hypoplastic left heart syndrome; birth through the first interstage period. (22891735)
2013
9
Interstage weight gain for patients with hypoplastic left heart syndrome undergoing the hybrid procedure. (23006134)
2013
10
A case of wolf-hirschhorn syndrome and hypoplastic left heart syndrome. (22639003)
2013
11
Risk factors for preoperative periventricular leukomalacia in term neonates with hypoplastic left heart syndrome are patient related. (23879933)
2013
12
Ventricular Strain in Fetuses with Aortic Stenosis and Evolving Hypoplastic Left Heart Syndrome before and after Prenatal Aortic Valvuloplasty. (24280672)
2013
13
Optimization of Preoperative Status in Hypoplastic Left Heart Syndrome With Intact Atrial Septum by Left Atrial Decompression and Bilateral Pulmonary Artery Bands. (24141828)
2013
14
Angiographic evaluation of the coronary artery anatomy in patients with hypoplastic left heart syndrome. (22219423)
2012
15
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. (21457232)
2012
16
Myocardial alternative RNA splicing and gene expression profiling in early stage hypoplastic left heart syndrome. (22299024)
2012
17
The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome. (21271655)
2011
18
Arrhythmias in patients with hypoplastic left heart syndrome. (21167346)
2011
19
Feeding complications in hypoplastic left heart syndrome after the Norwood procedure: a systematic review of the literature. (21336978)
2011
20
Tricuspid valve repair in hypoplastic left heart syndrome. (21347834)
2011
21
Primary care cardiology for patients with hypoplastic left heart syndrome. (22152529)
2011
22
Hypoplastic left heart syndrome with valvular pulmonary stenosis: successful management with norwood staged reconstruction. (21871313)
2011
23
Cerebral blood flow characteristics and biometry in fetuses undergoing prenatal intervention for aortic stenosis with evolving hypoplastic left heart syndrome. (19931971)
2010
24
Center variation and outcomes associated with delayed sternal closure after stage 1 palliation for hypoplastic left heart syndrome. (20167337)
2010
25
Hypoplastic left heart syndrome associated with large omphalocele and hypoplastic left bronchus. (20490481)
2010
26
Cardiac magnetic resonance imaging prior to bidirectional cavopulmonary connection in hypoplastic left heart syndrome. (20452284)
2010
27
Hypoplastic left heart syndrome in patients with Kabuki syndrome. (19967352)
2010
28
Anesthetic management of the hybrid stage 1 procedure for hypoplastic left heart syndrome (HLHS). (20078800)
2010
29
Outcome of the Norwood operation in patients with hypoplastic left heart syndrome: a 12-year single-center survey. (19879598)
2010
30
Is "treat your child normally" helpful advice for parents of survivors of treatment of hypoplastic left heart syndrome? (19272201)
2009
31
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
32
Hypoplastic left heart syndrome diagnosed in fetal life: associated findings, pregnancy outcome and results of palliative surgery. (19367583)
2009
33
Interventions complementing surgery as part of multistage treatment for hypoplastic left heart syndrome: one center's experience. (18726645)
2009
34
The paradigm shift toward surgical intervention for neonates with hypoplastic left heart syndrome. (18762602)
2008
35
Antenatal perspective of hypoplastic left heart syndrome: 5 years on. (18006564)
2008
36
Use of mathematic modeling to compare and predict hemodynamic effects of the modified Blalock-Taussig and right ventricle-pulmonary artery shunts for hypoplastic left heart syndrome. (18692636)
2008
37
Atrial septal interventions in patients with hypoplastic left heart syndrome. (18942130)
2008
38
Hybrid management for hypoplastic left heart syndrome : an experience from Brazil. (18080154)
2008
39
Stage I palliation for hypoplastic left heart syndrome: Norwood versus Sano modification. (17284981)
2007
40
Edge-to-edge tricuspid valve repair in hypoplastic left heart syndrome. (18066643)
2007
41
Complete cavopulmonary shunt completion after in utero balloon atrial septoplasty for hypoplastic left heart syndrome. (17976479)
2007
42
Phenoxybenzamine is indicated in treatment of hypoplastic left heart syndrome: pro. (17646480)
2007
43
Pentalogy of Cantrell associated with hypoplastic left heart syndrome and herniation of the ventricular mass into the abdominal cavity. (17670547)
2006
44
In-hospital mortality for children with hypoplastic left heart syndrome after stage I surgical palliation: teaching versus nonteaching hospitals. (16585328)
2006
45
Growth and correlates of nutritional status among infants with hypoplastic left heart syndrome (HLHS) after stage 1 Norwood procedure. (16500550)
2006
46
Cardiac magnetic resonance imaging after stage I Norwood operation for hypoplastic left heart syndrome. (16301358)
2005
47
A Fontan completion through stage I bilateral pulmonary artery banding for hypoplastic left heart syndrome. (16256807)
2005
48
Stage I bilateral pulmonary artery banding maintains systemic flow by prostaglandin E1 infusion or a main pulmonary artery to the descending aorta shunt for hypoplastic left heart syndrome. (17670429)
2005
49
Ductal anatomy: a determinant of successful stenting in hypoplastic left heart syndrome. (15868316)
2005
50
A decade of staged Norwood palliation in hypoplastic left heart syndrome in a midsized cardiosurgical center. (16132281)
2005

Genetic Variations for Hypoplastic Left Heart Syndrome

Expression for genes affiliated with Hypoplastic Left Heart Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 12EMD Millipore
See all sources

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

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB
See all sources

Compounds related to Hypoplastic Left Heart Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1carvedilol45 50 29 1112.9GJA1, XDH
2nitric oxide45 11 2411.0NKX2-5, LIPE, XDH, GJA1, NOTCH1
3serine457.8MBTPS1, NKX2-5, LIPE, CDH2, GJA1, NOTCH1
4lipid457.8NOTCH1, GJA1, CDH2, XDH, LIPE, FOXC2

GO Terms for genes affiliated with Hypoplastic Left Heart Syndrome

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypoplastic Left Heart Syndrome

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