MCID: HYP055
MIFTS: 61

Hypoplastic Left Heart Syndrome malady

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

Summaries for Hypoplastic Left Heart Syndrome

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NIH Rare Diseases:41 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, and has symptoms including hypoplastic left heart, abnormality of the aorta and defect in the atrial septum. 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.

Disease Ontology:9 A congenital heart disease characterized by abnormal development of the left-sided structures of the heart.

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

Aliases & Classifications for Hypoplastic Left Heart Syndrome

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Sources:
30LifeMap Discovery®, 9Disease Ontology, 41NIH Rare Diseases, 20GeneTests, 11DISEASES, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 55SNOMED-CT, 27ICD9CM, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Hypoplastic Left Heart Syndrome, Aliases & Descriptions:

Name: Hypoplastic Left Heart Syndrome 30 9 41 20 11 47 22 60
 
Hlhs 41 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
hypoplastic left heart syndrome:
Prevalence: 1-5/10000 (Europe),1-5/10000 (Austria),1-5/10000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (France),1-5/10000 (Germany),1-5/10000 (Hungary),1-5/10000 (Ireland),1-9/100000 (Italy),1-5/10000 (Malta),1-9/100000 (Netherlands),1-5/10000 (Norway),1-9/100000 (Poland),1-9/100000 (Portugal),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-5/10000 (Ukraine),1-9/100000 (Spain); Age of onset: Antenatal,Neonatal


External Ids:

Disease Ontology9 DOID:9955
MeSH33 D018636
ICD9CM27 746.7
Orphanet47 2248
SNOMED-CT55 62067003
MESH via Orphanet34 D018636
ICD10 via Orphanet26 Q23.4
UMLS via Orphanet61 C0152101
ICD1025 Q23.4

Related Diseases for Hypoplastic Left Heart Syndrome

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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 Suite gene sharing:

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1hypoplastic left heart syndrome 131.6GJA1
2congenital heart disease31.0GJA1, NKX2-5
3hemophagocytic lymphohistiocytosis10.7
4hypoplastic left heart syndrome 210.7
5cerebritis10.6
6aneurysm10.6
7cor triatriatum10.5
8transposition of the great arteries10.5
9atrioventricular septal defect10.4NKX2-5
10lymphedema-distichiasis syndrome10.4FOXC2
11axenfeld-rieger syndrome, type 310.4SMYD1
12holt-oram syndrome10.4
13pulmonary valve stenosis10.4
14pentalogy of cantrell10.4
15omphalocele10.4
16hemophagocytic lymphohistiocytosis, familial, 110.3
17wolf-hirschhorn syndrome10.2
18ventricular septal defect 310.2
19kleefstra syndrome10.2
20aortic valve disease 110.2
21moebius syndrome10.2
22alveolar capillary dysplasia with misalignment of pulmonary veins10.2
23total anomalous pulmonary venous return10.2
24coronary artery disease10.2
25spinal muscular atrophy10.2
26dextrocardia10.2
27endocardial fibroelastosis10.2
28microcephaly10.2
29tricuspid valve insufficiency10.2
30protein-losing enteropathy10.2
31bronchitis10.2
32situs inversus10.2
33muscular atrophy10.2
34patent foramen ovale10.2
35biliary atresia10.2
36ebstein anomaly10.2
37periventricular leukomalacia10.2
38aortic aneurysm10.2
39artery disease10.2
40pseudohermaphroditism10.2
41alveolar capillary dysplasia10.2
42aortic coarctation10.2
43hydrops fetalis10.2
44hypoplastic right heart syndrome10.2
45leukomalacia10.2
46tracheoesophageal fistula10.2
47tricuspid atresia10.2
48left ventricular outflow tract obstruction10.2
49truncus arteriosus10.2
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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Symptoms:

 47 (show all 8)
  • hypoplastic left heart/ventricle
  • stillbirth/neonatal death
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • atrial septal defect/interauricular communication
  • patent ductus arteriosus
  • total/partial trisomy/duplication
  • maternal diabetes

HPO human phenotypes related to Hypoplastic Left Heart Syndrome:

(show all 7)
id Description Frequency HPO Source Accession
1 hypoplastic left heart hallmark (90%) HP:0004383
2 abnormality of the aorta typical (50%) HP:0001679
3 defect in the atrial septum occasional (7.5%) HP:0001631
4 abnormality of the mitral valve occasional (7.5%) HP:0001633
5 patent ductus arteriosus occasional (7.5%) HP:0001643
6 abnormality of chromosome segregation occasional (7.5%) HP:0002916
7 maternal diabetes occasional (7.5%) HP:0009800

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 UMLS60/NDF-RT39:

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
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:

31
Heart, Skin, Liver, Lung, Eye, Bone, Kidney, Uterus, Neutrophil

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 544)
idTitleAuthorsYear
1
Hybrid stenting of restrictive atrial septum in an infant with hypoplastic left heart syndrome after hybrid stage 1 palliation. (25625457)
2015
2
Regenerative therapy for hypoplastic left heart syndrome: First report of intraoperative intramyocardial injection of autologous umbilical-cord blood-derived cells. (25466856)
2015
3
Self-expanding stent implantation in arterial duct during hybrid palliation of hypoplastic left heart syndrome: midterm experience with a specially designed stent. (25631369)
2015
4
Technical and anatomical factors affecting the size of the branch pulmonary arteries following first-stage Norwood palliation for hypoplastic left heart syndrome. (25681509)
2015
5
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
6
Hypoplastic left heart syndrome with dextrocardia and situs solitus. (24668985)
2014
7
Tracheal compression following hybrid procedure in an infant with hypoplastic left heart syndrome. (25240547)
2014
8
Cardiac troponin I, cardiac troponin-specific autoantibodies and natriuretic peptides in children with hypoplastic left heart syndrome. (24101702)
2014
9
Psychosocial responses of parents to their infant's diagnosis of hypoplastic left heart syndrome. (25215886)
2014
10
Impaired cerebral perfusion after bilateral pulmonary arterial banding in patients with hypoplastic left heart syndrome. (23993895)
2013
11
Effects of pulmonary artery banding and retrograde aortic arch obstruction on the hybrid palliation of hypoplastic left heart syndrome. (23434295)
2013
12
Abnormal Abdominal Aorta Hemodynamics Are Associated With Necrotizing Enterocolitis in Infants With Hypoplastic Left Heart Syndrome. (24154504)
2013
13
Use of computational fluid dynamics to estimate hemodynamic effects of respiration on hypoplastic left heart syndrome surgery: total cavopulmonary connection treatments. (24385870)
2013
14
QRS duration changes in patients with hypoplastic left heart syndrome undergoing hybrid palliation: prehybrid to post-Fontan. (23305551)
2013
15
Mechanisms of tricuspid valve regurgitation in hypoplastic left heart syndrome: a case-matched echocardiographic-surgical comparison study. (22723622)
2013
16
Right ventricular mechanics in the fetus with hypoplastic left heart syndrome. (23473605)
2013
17
Predictors of ductus arteriosus in-stent stenosis in the hybrid approach to hypoplastic left heart syndrome. (23064839)
2013
18
Assessment of right ventricular volumes in hypoplastic left heart syndrome by real-time three-dimensional echocardiography: comparison with cardiac magnetic resonance imaging. (23946284)
2013
19
Aortic aneurysm with a ruptured dissection in a 15-year-old boy with hypoplastic left heart syndrome. (24418664)
2013
20
Fetal hypoplastic left heart syndrome and maternal liver transplantation for Wilson's disease: a case report. (24378118)
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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Clinvar genetic disease variations for Hypoplastic Left Heart Syndrome:

6
id Gene Variation 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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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 Suite gene sharing:

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 Suite gene sharing:

(show all 11)
idCompoundScoreTop Affiliating Genes
1carvedilol43 49 28 1212.9GJA1, XDH
2ethidium bromide439.9GJA1, XDH
3ryanodine43 28 5911.8CDH2, GJA1
4s-nitroso-n-acetylpenicillamine439.8GJA1, XDH
5matrigel439.6GJA1, NOTCH1, CDH2
6doxycycline43 1210.5NOTCH1, GJA1
7doxorubicin43 49 1211.3XDH, GJA1, NOTCH1
8genistein43 28 59 2 24 1214.3CDH2, NOTCH1, GJA1
9nitric oxide43 24 1211.2XDH, NKX2-5, GJA1, NOTCH1
10serine438.8CDH2, MBTPS1, NOTCH1, GJA1, NKX2-5
11lipid438.3CDH2, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intercalated discGO:00147049.8CDH2, GJA1
2fascia adherensGO:00059169.5CDH2, GJA1

Biological processes related to Hypoplastic Left Heart Syndrome according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of myotube differentiationGO:001083210.0NKX2-5, NOTCH1
2glomerular mesangial cell developmentGO:007214410.0NOTCH1, FOXC2
3ventricular trabecula myocardium morphogenesisGO:00032229.9NKX2-5, NOTCH1
4embryonic heart tube developmentGO:00350509.9NKX2-5, FOXC2
5cardiac muscle tissue morphogenesisGO:00550089.9NOTCH1, NKX2-5
6ventricular septum morphogenesisGO:00604129.8NOTCH1, NKX2-5
7camera-type eye developmentGO:00430109.8FOXC2, FOXL1
8cardiac muscle cell proliferationGO:00600389.7FOXC2, NKX2-5, NOTCH1
9negative regulation of canonical Wnt signaling pathwayGO:00900909.6CDH2, NOTCH1, NKX2-5
10heart loopingGO:00019479.5NOTCH1, NKX2-5
11skeletal muscle cell differentiationGO:00359149.1NOTCH1, SMYD1
12negative regulation of transcription, DNA-templatedGO:00458928.9NOTCH1, NKX2-5, SMYD1
13heart developmentGO:00075078.6NOTCH1, GJA1, FOXL1, FOXC2, SMYD1

Molecular functions related to Hypoplastic Left Heart Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1DNA binding, bendingGO:00083019.8FOXL1, FOXC2
2RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcriptionGO:00011909.8NOTCH1, NKX2-5
3chromatin DNA bindingGO:00314909.6FOXC2, NOTCH1
4sequence-specific DNA bindingGO:00435659.2NOTCH1, NKX2-5, FOXL1, FOXC2
5sequence-specific DNA binding transcription factor activityGO:00037008.8NOTCH1, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet