HLHS
MCID: HYP055
MIFTS: 63

Hypoplastic Left Heart Syndrome (HLHS) malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Fetal diseases categories
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Summaries for Hypoplastic Left Heart Syndrome

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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 based summary: 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:65 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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Hypoplastic Left Heart Syndrome, Aliases & Descriptions:

Name: Hypoplastic Left Heart Syndrome 30 8 42 20 22 10 62
 
Hlhs 42


Classifications:



External Ids:

Disease Ontology8 DOID:9955
OMIM46 241550
MeSH34 D018636
SNOMED-CT57 62067003
ICD9CM27 746.7
ICD1025 Q23.4

Related Diseases for Hypoplastic Left Heart Syndrome

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Diseases in the Hypoplastic Left Heart Syndrome 1 family:

hypoplastic left heart syndrome Hypoplastic Left Heart Syndrome 2

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 131.7GJA1
2congenital heart disease31.0GJA1, NKX2-5
3hemophagocytic lymphohistiocytosis10.7
4cerebritis10.6
5aneurysm10.6
6hypoplastic left heart syndrome 210.6
7cor triatriatum10.5
8transposition of the great arteries10.5
9right aortic arch10.5
10kabuki syndrome10.5
11atrioventricular septal defect10.5NKX2-5
12lymphedema-distichiasis syndrome10.4FOXC2
13axenfeld-rieger syndrome10.4SMYD1
14microcephaly10.4
15aortic valve stenosis10.4
16pulmonary valve stenosis10.4
17holt-oram syndrome10.4
18pagod syndrome10.4
19pentalogy of cantrell10.4
20omphalocele10.4
21hemophagocytic lymphohistiocytosis, familial10.2
22hypertension10.2
23spinal muscular atrophy10.2
24endocardial fibroelastosis10.2
25bronchitis10.2
26situs inversus10.2
27muscular atrophy10.2
28patent foramen ovale10.2
29biliary atresia10.2
30periventricular leukomalacia10.2
31dextrocardia10.2
32wolf-hirschhorn syndrome10.2
33tricuspid valve insufficiency10.2
34protein-losing enteropathy10.2
35scimitar syndrome10.2
36hirschsprung's disease10.2
37noonan syndrome10.2
38aortic aneurysm10.2
39artery disease10.2
40pseudohermaphroditism10.2
41kleefstra syndrome10.2
42peters plus syndrome10.2
43alveolar capillary dysplasia10.2
44aortic coarctation10.2
45hydrops fetalis10.2
46hypoplastic right heart syndrome10.2
47leukomalacia10.2
48moebius syndrome10.2
49tracheoesophageal fistula10.2
50tricuspid atresia10.2

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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Clinical features from OMIM:

241550

Drugs & Therapeutics for Hypoplastic Left Heart Syndrome

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Drug clinical trials:

Search ClinicalTrials for Hypoplastic Left Heart Syndrome

Search NIH Clinical Center for Hypoplastic Left Heart Syndrome

Inferred drug relations via UMLS62/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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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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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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Publications for Hypoplastic Left Heart Syndrome

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Articles related to Hypoplastic Left Heart Syndrome:

(show top 50)    (show all 526)
idTitleAuthorsYear
1
Stage 1 hybrid palliation for hypoplastic left heart syndrome-assessment of contemporary patterns of use: An analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database. (25266878)
2014
2
Hypoplastic left heart syndrome with dextrocardia and situs solitus. (24668985)
2014
3
Tracheal compression following hybrid procedure in an infant with hypoplastic left heart syndrome. (25240547)
2014
4
Cardiac troponin I, cardiac troponin-specific autoantibodies and natriuretic peptides in children with hypoplastic left heart syndrome. (24101702)
2014
5
Psychosocial responses of parents to their infant's diagnosis of hypoplastic left heart syndrome. (25215886)
2014
6
Survey of How Pediatric Cardiologists Noninvasively Evaluate Patients with Hypoplastic Left Heart Syndrome. (25266754)
2014
7
Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion. (25380126)
2014
8
Impaired cerebral perfusion after bilateral pulmonary arterial banding in patients with hypoplastic left heart syndrome. (23993895)
2013
9
Effects of pulmonary artery banding and retrograde aortic arch obstruction on the hybrid palliation of hypoplastic left heart syndrome. (23434295)
2013
10
Abnormal Abdominal Aorta Hemodynamics Are Associated With Necrotizing Enterocolitis in Infants With Hypoplastic Left Heart Syndrome. (24154504)
2013
11
Use of computational fluid dynamics to estimate hemodynamic effects of respiration on hypoplastic left heart syndrome surgery: total cavopulmonary connection treatments. (24385870)
2013
12
QRS duration changes in patients with hypoplastic left heart syndrome undergoing hybrid palliation: prehybrid to post-Fontan. (23305551)
2013
13
Mechanisms of tricuspid valve regurgitation in hypoplastic left heart syndrome: a case-matched echocardiographic-surgical comparison study. (22723622)
2013
14
Microcephaly is associated with early adverse neurologic outcomes in hypoplastic left heart syndrome. (23575878)
2013
15
Right ventricular mechanics in the fetus with hypoplastic left heart syndrome. (23473605)
2013
16
Predictors of ductus arteriosus in-stent stenosis in the hybrid approach to hypoplastic left heart syndrome. (23064839)
2013
17
Assessment of right ventricular volumes in hypoplastic left heart syndrome by real-time three-dimensional echocardiography: comparison with cardiac magnetic resonance imaging. (23946284)
2013
18
Aortic aneurysm with a ruptured dissection in a 15-year-old boy with hypoplastic left heart syndrome. (24418664)
2013
19
Fetal hypoplastic left heart syndrome and maternal liver transplantation for Wilson's disease: a case report. (24378118)
2013
20
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
21
Fifteen-year single-center experience with the Norwood operation for complex lesions with single-ventricle physiology compared with hypoplastic left heart syndrome. (22244563)
2012
22
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
23
Heart for bonding: a new protocol of care for hypoplastic left heart syndrome. (22908051)
2012
24
Changing attitudes to the management of hypoplastic left heart syndrome: a European perspective. (22152542)
2011
25
Hypoplastic left heart syndrome with intact atrial septum sequelae of left atrial hypertension in utero. (21565633)
2011
26
Systemic RV in hypoplastic left heart syndrome after surgical palliation. (21679907)
2011
27
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
28
Pathology of the aortic arch in hypoplastic left heart syndrome: surgical implications. (21104077)
2011
29
Unexpected infant death due to hypoplastic left heart syndrome: a case report. (21940189)
2011
30
Reducing the incidence of necrotizing enterocolitis in neonates with hypoplastic left heart syndrome with the introduction of an enteral feed protocol. (19838139)
2010
31
Hypoplastic left heart syndrome. (20237013)
2010
32
Impact of antenatal diagnosis of hypoplastic left heart syndrome on the clinical presentation and surgical outcomes: the Australian experience. (19210602)
2009
33
Exercise capacity of a contemporary cohort of children with hypoplastic left heart syndrome after staged palliation. (19643621)
2009
34
Is "treat your child normally" helpful advice for parents of survivors of treatment of hypoplastic left heart syndrome? (19272201)
2009
35
Right ventricular performance in the fetus with hypoplastic left heart syndrome. (19324154)
2009
36
Impact of mitral stenosis and aortic atresia on survival in hypoplastic left heart syndrome. (18498820)
2008
37
Stage I palliation for hypoplastic left heart syndrome: Norwood versus Sano modification. (17284981)
2007
38
Hypoplastic left heart syndrome is heritable. (17936159)
2007
39
The systolic to diastolic duration ratio in children with hypoplastic left heart syndrome: a novel Doppler index of right ventricular function. (17543747)
2007
40
The nomenclature, definition and classification of hypoplastic left heart syndrome. (16839428)
2006
41
Rescue cardiac transplantation for failing staged palliation in patients with hypoplastic left heart syndrome. (17116269)
2006
42
Anesthetic management of tracheoesophageal fistula repair in a newborn with hypoplastic left heart syndrome. (16677272)
2006
43
The management of hypoplastic left heart syndrome with a right aortic arch. (16984705)
2006
44
Novel approach to the newborn with hypoplastic left heart syndrome and intact atrial septum. (16097012)
2005
45
Hypoplastic left heart syndrome and valvar pulmonary stenosis: presentation and management. (15565270)
2005
46
Cardiac magnetic resonance imaging after stage I Norwood operation for hypoplastic left heart syndrome. (16301358)
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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Expression for genes affiliated with Hypoplastic Left Heart Syndrome

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

(show all 11)
idCompoundScoreTop Affiliating Genes
1carvedilol44 50 28 1112.9GJA1, XDH
2ethidium bromide449.9GJA1, XDH
3ryanodine44 28 6111.8CDH2, GJA1
4s-nitroso-n-acetylpenicillamine449.8GJA1, XDH
5matrigel449.6GJA1, NOTCH1, CDH2
6doxycycline44 1110.5NOTCH1, GJA1
7doxorubicin44 50 1111.3XDH, GJA1, NOTCH1
8genistein44 28 61 2 24 1114.3CDH2, NOTCH1, GJA1
9nitric oxide44 24 1111.2XDH, NKX2-5, GJA1, NOTCH1
10serine448.8CDH2, MBTPS1, NOTCH1, GJA1, NKX2-5
11lipid448.3CDH2, MBTPS1, NOTCH1, GJA1, FOXC2, XDH

GO Terms for genes affiliated with Hypoplastic Left Heart Syndrome

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet