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HLHS
MCID: HYP055
MIFTS: 62

Hypoplastic Left Heart Syndrome (HLHS)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Hypoplastic Left Heart Syndrome

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MalaCards integrated aliases for Hypoplastic Left Heart Syndrome:

Name: Hypoplastic Left Heart Syndrome 12 74 52 58 36 29 6 43 15 37 71 32
Hlhs 52 58
Heart, Hypoplastic Left, Syndrome 39

Characteristics:

Orphanet epidemiological data:

58
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;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Cardiovascular diseases Respiratory diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:9955
KEGG 36 H01272
ICD9CM 34 746.7
MeSH 43 D018636
NCIt 49 C98894
SNOMED-CT 67 62067003
ICD10 32 Q23.4
MESH via Orphanet 44 D018636
ICD10 via Orphanet 33 Q23.4
UMLS via Orphanet 72 C0152101
Orphanet 58 ORPHA2248
UMLS 71 C0152101
Sources

Summaries for Hypoplastic Left Heart Syndrome

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NIH Rare Diseases : 52 Hypoplastic left heart syndrome (HLHS) is a heart condition present from birth (congenital heart defect ). In HLHS, the heart's left side (including the aorta , aortic valve , left ventricle and mitral valve ) is underdeveloped. At birth, oxygen-rich blood bypasses the underdeveloped left side of the heart, going through openings between the left and right side that normally close a few days after birth (the patent ductus arteriosus and the patent foramen ovale ). The right side of the heart then pumps blood to the lungs and the body. Therefore, there may be no symptoms for a few days. However, when these openings close, oxygen-rich blood cannot easily get to the rest of the body. Symptoms then develop quickly, and may include problems breathing, pounding heart, weak pulse, and/or an ashen or bluish skin color. Some children with HLHS also have other heart defects, such as an atrial septal defect . In most children with HLHS, the cause is not known. It typically occurs sporadically in otherwise normal babies. In some children, isolated HLHS is known to be genetic. These cases may be due to mutations in the GJA1 gene with autosomal recessive inheritance, or the NKX2-5 gene with autosomal dominant inheritance. HLHS has also been reported with certain genetic disorders including Turner syndrome , Jacobsen syndrome , trisomy 13 , and trisomy 18 . If not treated, HLHS is fatal within the first few days or weeks of life. While treatment is difficult, surgical and medical interventions have improved chances of survival. Treatment may include a series of surgeries to restore function to the left side of the heart (staged reconstruction), or heart transplant. However, even with treatment, lifelong complications are possible and life expectancy may be reduced.

MalaCards based summary : Hypoplastic Left Heart Syndrome, also known as hlhs, is related to hypoplastic left heart syndrome 1 and aortic valve disease 1. An important gene associated with Hypoplastic Left Heart Syndrome is TBX20 (T-Box Transcription Factor 20), and among its related pathways/superpathways are Gap junction and cGMP-PKG signaling pathway. The drugs Hemostatics and Natriuretic Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and brain, and related phenotypes are hypoplastic left heart and hypoplastic aortic arch

Disease Ontology : 12 A congenital heart disease characterized by abnormal development of the left-sided structures of the heart.

KEGG : 36 Hypoplastic left heart syndrome (HLHS) is a severe, uniformly fatal congenital heart defect typically characterized by hypoplasia of the left ventricular chamber and aorta in association with stenosis and/or atresia of the mitral and aortic valves. There is now strong evidence implicating multiple genetic loci for HLHS. Potential mutations in at least 4 genes, GJA1, NKX2-5, NOTCH1, and HAND1, have been associated with HLHS.

Wikipedia : 74 Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect in which the left side of the... more...

Sources

Related Diseases for Hypoplastic Left Heart Syndrome

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Diseases in the Hypoplastic Left Heart Syndrome family:

Hypoplastic Left Heart Syndrome 1 Hypoplastic Left Heart Syndrome 2

Diseases related to Hypoplastic Left Heart Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 350)
# Related Disease Score Top Affiliating Genes
1 hypoplastic left heart syndrome 1 35.4 HAND1 GJA1 FOXP1
2 aortic valve disease 1 33.3 TBX20 TBX1 SMAD6 NOTCH1 NKX2-5 MYH6
3 aortic valve disease 2 33.0 TNNI3 SMAD6 NPPB NPPA NOTCH1 NKX2-5
4 heart septal defect 31.7 TNNI3 TBX20 TBX1 NPPA NOTCH1 NKX2-5
5 patent ductus arteriosus 1 31.7 TBX20 TBX1 NPPB NOTCH1 NKX2-5 MYH6
6 tricuspid atresia 31.6 TBX20 TBX1 NKX2-5
7 atrial heart septal defect 31.5 TNNI3 TBX20 TBX1 NPPB NPPA NOTCH1
8 double outlet right ventricle 31.5 TBX20 TBX1 NOTCH1 NKX2-5 HAND1
9 ventricular septal defect 31.3 TBX20 NPPB NPPA NOTCH1 NKX2-5 HAND1
10 congestive heart failure 31.2 TNNI3 NPPB NPPA MYH6
11 atrioventricular septal defect 31.2 TBX20 TBX1 NKX2-5 MYH6 GJA1 FOXP1
12 patent foramen ovale 31.1 TNNI3 TBX20 TBX1 NPPB NKX2-5 MYH6
13 mitral valve insufficiency 31.1 TNNI3 NPPB NPPA MYH6
14 atrioventricular block 31.1 TNNI3 NPPB NKX2-5 GJA1
15 pulmonary edema 31.1 TNNI3 NPPB NPPA
16 sinoatrial node disease 30.9 NKX2-5 MYH6 GJA1
17 holt-oram syndrome 30.8 TBX4 TBX20 TBX1 NPPA NKX2-5 MYH6
18 kleefstra syndrome 30.8 NOTCH1 EHMT1
19 ebstein anomaly 30.8 TBX20 NPPB NKX2-5 MYH6
20 pericardial effusion 30.7 TNNI3 NPPB NPPA
21 coronary artery anomaly 30.4 TNNI3 TBX1 NPPB NPPA NKX2-5 MYH6
22 tetralogy of fallot 30.4 TNNI3 TBX20 TBX1 NPPB NPPA NOTCH1
23 dilated cardiomyopathy 30.3 TNNI3 TBX20 NPPB NPPA NKX2-5 MYH6
24 heart disease 30.0 TNNI3 TBX4 TBX20 TBX1 NPPB NPPA
25 hypoplastic left heart syndrome 2 12.9
26 hemophagocytic lymphohistiocytosis, familial, 1 12.4
27 lymphoproliferative syndrome, x-linked, 1 11.9
28 griscelli syndrome, type 2 11.6
29 griscelli syndrome 11.6
30 hemophagocytic lymphohistiocytosis 11.6
31 critical congenital heart disease 11.6
32 hypoplastic right heart syndrome 11.6
33 macrophage activation syndrome 11.5
34 t-cell lymphoma, subcutaneous panniculitis-like 11.4
35 lymphoproliferative syndrome, x-linked, 2 11.3
36 ritscher-schinzel syndrome 1 11.3
37 cardiomyopathy, infantile histiocytoid 11.3
38 ventricular septal defect 3 11.3
39 aortic valve disease 3 11.3
40 webb-dattani syndrome 11.2
41 single ventricular heart 10.9
42 cardiac arrest 10.8
43 tricuspid valve insufficiency 10.8
44 mitral atresia 10.7
45 mitral valve stenosis 10.7
46 heart, malformation of 10.6 NOTCH1 NKX2-5 MYH6
47 interatrial communication 10.6
48 hypogonadotropic hypogonadism 5 with or without anosmia 10.6 NKX2-5 MYH6 FOXL1
49 ulnar-mammary syndrome 10.6 TBX4 TBX20 TBX1 NKX2-5
50 axenfeld-rieger syndrome 10.6 NKX2-5 GJA1 FOXC2

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



Diseases related to Hypoplastic Left Heart Syndrome
Sources

Symptoms & Phenotypes for Hypoplastic Left Heart Syndrome

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Human phenotypes related to Hypoplastic Left Heart Syndrome:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoplastic left heart 58 31 hallmark (90%) Very frequent (99-80%) HP:0004383
2 hypoplastic aortic arch 58 31 frequent (33%) Frequent (79-30%) HP:0012304
3 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
4 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
5 mitral stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001718
6 maternal diabetes 58 31 occasional (7.5%) Occasional (29-5%) HP:0009800
7 abnormality of chromosome segregation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002916
8 mitral atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011560

MGI Mouse Phenotypes related to Hypoplastic Left Heart Syndrome:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.41 CDH2 EHMT1 FOXC2 GJA1 HAND1 LCN2
2 cellular MP:0005384 10.34 CDH2 EHMT1 FOXL1 GJA1 HAND1 LCN2
3 growth/size/body region MP:0005378 10.25 CDH2 EHMT1 FOXC2 FOXL1 GJA1 HAND1
4 mortality/aging MP:0010768 10.25 CDH2 EHMT1 FOXC2 FOXL1 GJA1 HAND1
5 homeostasis/metabolism MP:0005376 10.24 CDH2 EHMT1 FOXC2 GJA1 HAND1 LCN2
6 embryo MP:0005380 10.17 CDH2 EHMT1 FOXC2 GJA1 HAND1 LEP
7 muscle MP:0005369 10.07 CDH2 FOXC2 GJA1 HAND1 LEP MYH6
8 craniofacial MP:0005382 10.02 EHMT1 FOXC2 GJA1 HAND1 NKX2-5 NOTCH1
9 digestive/alimentary MP:0005381 10 FOXC2 FOXL1 HAND1 LEP NKX2-5 NOTCH1
10 nervous system MP:0003631 9.9 CDH2 EHMT1 FOXC2 GJA1 HAND1 LEP
11 normal MP:0002873 9.61 EHMT1 FOXC2 GJA1 HAND1 NKX2-5 NOTCH1
12 respiratory system MP:0005388 9.28 FOXC2 GJA1 HAND1 LEP MYH6 NKX2-5
Sources

Drugs & Therapeutics for Hypoplastic Left Heart Syndrome

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Drugs for Hypoplastic Left Heart Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 59)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hemostatics Phase 2, Phase 3
2 Natriuretic Agents Phase 2, Phase 3
3 Vasoconstrictor Agents Phase 2, Phase 3
4 Arginine Vasopressin Phase 2, Phase 3
5 Vasopressins Phase 2, Phase 3
6 Coagulants Phase 2, Phase 3
7
Arginine Investigational, Nutraceutical Phase 2, Phase 3 74-79-3 6322
8
Sodium citrate Approved, Investigational Phase 2 68-04-2
9
Bosentan Approved, Investigational Phase 2 147536-97-8 104865
10
Ambrisentan Approved, Investigational Phase 2 177036-94-1 6918493
11
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
12
Racepinephrine Approved Phase 2 329-65-7 838
13
Oxandrolone Approved, Investigational Phase 1, Phase 2 53-39-4 5878
14
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
15 Kava Approved, Investigational, Nutraceutical Phase 2 9000-38-8
16 Hematinics Phase 1, Phase 2
17 Epoetin alfa Phase 1, Phase 2 113427-24-0
18 Citrate Phase 2
19 Sildenafil Citrate Phase 2 171599-83-0
20 Phosphodiesterase Inhibitors Phase 2
21 Phosphodiesterase 5 Inhibitors Phase 2
22 Endothelin Receptor Antagonists Phase 2
23 Epinephryl borate Phase 2
24 Hormone Antagonists Phase 1, Phase 2
25 Anabolic Agents Phase 1, Phase 2
26 Hormones Phase 1, Phase 2
27 Androgens Phase 1, Phase 2
28
Dexmedetomidine Approved, Vet_approved Phase 1 113775-47-6 68602 5311068
29 Poractant alfa Approved Phase 1 129069-19-8
30 Analgesics Phase 1
31 Adrenergic alpha-2 Receptor Agonists Phase 1
32 Analgesics, Non-Narcotic Phase 1
33 Hypnotics and Sedatives Phase 1
34 Adrenergic Agonists Phase 1
35 Central Nervous System Depressants Phase 1
36 Respiratory System Agents Phase 1
37 Pulmonary Surfactants Phase 1
38
Dopamine Approved 51-61-6, 62-31-7 681
39
Ethanol Approved 64-17-5 702
40
Caffeine Approved 58-08-2 2519
41
Bupropion Approved 34911-55-2, 34841-39-9 444
42
Vitamin C Approved, Nutraceutical 50-81-7 5785 54670067
43 Antibodies
44 Immunologic Factors
45 Immunoglobulins
46 Vitamins
47 Dopamine Uptake Inhibitors
48 Cytochrome P-450 Enzyme Inhibitors
49 Dopamine Agents
50 Psychotropic Drugs

Interventional clinical trials:

(show top 50) (show all 82)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety Study of Autologous Cardiac Stem Cells (JRM-001) Treated After Reconstructive Surgery in Pediatric Patients With Congenital Heart Disease: A Multicenter Randomized Single-blind Parallel-group Study Unknown status NCT02781922 Phase 3
2 Trial of Right Ventricular Versus Modified Blalock-Taussig Shunt in Infants With Single Ventricle Defect Undergoing Staged Reconstruction (A Trial Conducted by the Pediatric Heart Network) Completed NCT00115934 Phase 3
3 Triostat in Children During CardioPulmonary Bypass (CPB) Completed NCT00027417 Phase 3 Liothyronine sodium/triiodothyronine
4 Use of Arginine Vasopressin in Early Postoperative Management After Fontan Palliation Completed NCT03088345 Phase 2, Phase 3 Vasopressin, Arginine;Placebos
5 Erythropoetin Neuroprotection for Neonatal Cardiac Surgery Unknown status NCT00513240 Phase 1, Phase 2 Erythropoetin;Normal saline
6 Phase 2 Study of Intracoronary Infusion of Cardiac Progenitor Cells in Patients With Univentricular Heart Disease Completed NCT01829750 Phase 2
7 Treatment With Endothelin Antagonist to Tcpc Patients; a Multicenter, Randomized, Prospective Study Measuring Maximal O2 Uptake in Ergometer Bicycle Test Completed NCT01292551 Phase 2 Bosentan;Placebo
8 The Sildenafil After Fontan Operation Study Completed NCT00507819 Phase 2 Sildenafil;Placebo
9 Safety, Pharmacokinetics (PK) and Hemodynamic Effects of Ambrisentan in Single Ventricle Pediatric Patients Completed NCT02080637 Phase 2 Ambrisentan
10 Phase IIb Study of Intramyocardial Injection of Autologous Umbilical Cord Blood Derived Mononuclear Cells During Stage II Surgical Repair of Right Ventricular Dependent Variants of Hypoplastic Left Heart Syndrome (AutoCell-S2) Recruiting NCT03779711 Phase 2
11 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle Recruiting NCT03079401 Phase 1, Phase 2
12 Maternal Hyperoxygenation in Congenital Heart Disease Recruiting NCT03136835 Phase 1, Phase 2 Maternal Hyperoxygenation
13 Allogeneic Human MEsenchymal Stem Cell (MSC) Injection in Patients With Hypoplastic Left Heart Syndrome: A Phase I/II Study (ELPIS) Active, not recruiting NCT03525418 Phase 1, Phase 2
14 Pilot Study to Assess the Efficacy of Autologous Umbilical Cord Blood Treatment of Brain and Heart Injury in Neonates With Congenital Heart Defect Not yet recruiting NCT03558269 Phase 1, Phase 2
15 Use of Oxandrolone to Promote Growth in Infants With Hypoplastic Left Heart Syndrome: A Phase I/II Pilot Study Not yet recruiting NCT04090697 Phase 1, Phase 2 Oxandrolone
16 Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery Withdrawn NCT00770705 Phase 2 Phenoxybenzamine
17 A Pilot Study of the Safety and Efficacy of Oxandrolone in the Prevention and Treatment of Malnutrition in Infants After Cardiac Surgery Unknown status NCT01048632 Phase 1 Oxandrolone
18 Phase I Study of Cardiac Progenitor Cell Therapy in Patients With Single Ventricle Physiology Completed NCT01273857 Phase 1
19 Safety, Pharmacokinetics and Hemodynamic Efficacy of Sildenafil in Single Ventricle Patients Completed NCT01169519 Phase 1 Sildenafil by injection;Sildenafil by injection;Sildenafil by injection;Sildenafil by injection
20 The Pharmacokinetics and Pharmacodynamics of Dexmedetomidine in Neonates Following Open Heart Surgery Completed NCT00576381 Phase 1 Dexmedetomidine
21 The Pharmacokinetics, Pharmacogenetics, and Pharmacodynamics of Dexmedetomidine In Infants Post-Operative From Cardiac Surgery Completed NCT00573066 Phase 1 Dexmedetomidine
22 Safety Study of Autologous Cord Blood Stem Cell Treatment in Hypoplastic Left Heart Syndrome Patients Undergoing the Norwood Heart Operation Recruiting NCT03431480 Phase 1
23 Phase I Safety Study of Autologous Umbilical Cord Blood Derived Mononuclear Cells During Surgical Stage II Palliation of Hypoplastic Left Heart Syndrome Recruiting NCT01883076 Phase 1
24 Autologous Cardiac Stem Cell Injection in Patients With Hypoplastic Left Heart Syndrome: An Open Label Pilot Study. Recruiting NCT03406884 Phase 1
25 The Cold Heart Study: A Randomized Pilot Trial of Surfactant Therapy Following Deep Hypothermic Circulatory Arrest During Cardiac Surgery Not yet recruiting NCT04181255 Phase 1 Curosurf;Sham
26 Autologous Cord Blood Cells for Patients With HLHS: Phase I Study of Feasibility and Safety Suspended NCT01445041 Phase 1
27 Allogeneic Human MEsenchymal Stem Cell (hMSC) Injection in Patients With Hypoplastic Left Heart Syndrome: An Open Label Pilot Study. Terminated NCT02398604 Phase 1 Allo-hMSCs;Placebo
28 Global and Regional Myocardial Strain and Power Output In Patients With Single Ventricles Using Novel MRI Techniques Unknown status NCT01107990
29 Abnormal Neurodevelopment Detection in Congenital Heart Disease: Predictive Methods Based on Prenatal and Postnatal Factors. Unknown status NCT02996630
30 Neurodevelopmental Outcomes in Hypoplastic Left Heart Syndrome—Correlation With Cerebral Non-invasive Infrared Spectroscopy (NIRS) Completed NCT00399555
31 Comparison of Feeding Strategies After Stage 1 Procedures for Hypoplastic Left Heart Syndrome Infants: A Randomized Controlled Trial Completed NCT02657629
32 Evaluation of Panel Reactive Antibody in Children Following Stage I Palliation for Hypoplastic Left Heart Syndrome Completed NCT01135485
33 Neurodevelopmental Outcomes and Postoperative Hemodynamics in Children With Hypoplastic Left Heart Syndrome Completed NCT00464100
34 Prophylactic Peritoneal Dialysis Decreases Time to Achieve a Negative Fluid Balance After the Norwood Procedure Completed NCT01215240
35 Evaluation of Maternal B-hemolytic Streptococcal Pharyngeal Exposure in Pregnancies Affected by Congenital Heart Disease(CHD) Completed NCT01603732
36 The Examination of Outcome in Children With Single Ventricle Physiology Completed NCT00308217
37 Computer Modeling of Congenital Heart Disease Completed NCT00366847
38 Identification of Biomarkers for Heart Failure in Children With Single Ventricle Physiology Completed NCT00571233
39 Influence of Genetic Polymorphisms on Ventricular Structure and Function in Patients With Single Ventricle Anatomy Completed NCT00165984
40 Near Infrared Spectroscopy Monitoring of Cerebral Oxygen Saturation in Neonatal Cardiac Surgery - Comparison With Common Methods of Estimating Adequate Systemic Perfusion Completed NCT00166101
41 Interstitial Colloid Osmotic Pressure in Children With Congenital Heart Defect Preparing for Fontan Surgery Undergoing Preoperative Catheterization and Surgery in General Anesthesia Completed NCT02306057
42 Randomized Controlled Trial on Deep Hypothermic Circulatory Arrest Versus Antegrade Cerebral Perfusion During Neonatal Cardiac Surgery Completed NCT01032876
43 Bupropion and Cardiac Birth Defects (Slone Epidemiology Center) Completed NCT01597661 Exposure to any bupropion during the first trimester;Exposure to bupropion alone during the first trimester
44 Vitamin C May Improve Endothelial Function and Exercise Capacity in Functional Single Ventricle Patients After Fontan Palliation Completed NCT00974025
45 A Magnetic Resonance Imaging Study to Determine Cerebral Blood Flow Changes in Single Ventricle Patients During Staged Reconstruction as Compared to Normal Children Completed NCT02135081
46 Oxygen Consumption-based Assessments of Hemodynamics in Neonates Following Congenital Heart Surgery (Oxy-CAHN Study) Completed NCT02184169
47 A Retrospective Study of Hypoxemia in Infants After Palliative Neonatal Surgery for Congenital Heart Disease Completed NCT00327977
48 Quality of Life Among Children With Congenital Heart Disease Completed NCT01202916
49 Impact of Early Intervention on Maternal Stress in Mothers of Fetuses Diagnosed With Single Ventricle Physiology Requiring Neonatal Surgery Completed NCT02462434
50 Umbilical Cord Blood Collection and Processing for Cardiac Regeneration in Hypoplastic Left Heart Syndrome Patients Recruiting NCT01856049

Search NIH Clinical Center for Hypoplastic Left Heart Syndrome

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Alprostadil

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: 17502484 14530411 18754813
Cardiac stem cells PMIDs: 17502484 14530411 18754813

Cochrane evidence based reviews: hypoplastic left heart syndrome

Sources

Genetic Tests for Hypoplastic Left Heart Syndrome

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Genetic tests related to Hypoplastic Left Heart Syndrome:

# Genetic test Affiliating Genes
1 Hypoplastic Left Heart Syndrome 29
Sources

Anatomical Context for Hypoplastic Left Heart Syndrome

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MalaCards organs/tissues related to Hypoplastic Left Heart Syndrome:

40
Heart, Lung, Brain, Skin, Liver, T Cells, Endothelial
Sources

Publications for Hypoplastic Left Heart Syndrome

About this section

Articles related to Hypoplastic Left Heart Syndrome:

(show top 50) (show all 2810)
# Title Authors PMID Year
1
Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease. 61 6
20456451 2010
2
NKX2.5 mutations in patients with congenital heart disease. 61 6
14607454 2003
3
Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). 61 6
11470490 2001
4
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. 6
20807224 2011
5
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. 6
19948535 2010
6
Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. 6
16418214 2006
7
NKX2.5 mutations in patients with tetralogy of fallot. 6
11714651 2001
8
Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease. 6
10903346 2000
9
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 6
10587520 1999
10
Detailed Echocardiographic Measurements of Individual Chamber in a Chinese Cohort of Hypoplastic Left Heart Syndrome and Comparison with Normal Fetuses via Z-score Modeling. 61
31859018 2020
11
Beating heart thoracic aortic surgery under selective myocardial perfusion for patients with congenital aortic anomalies. 61
32034678 2020
12
Congenital heart defects: the 10-year experience at a single center. 61
29914284 2020
13
Tricuspid valve repair in children with hypoplastic left heart syndrome: impact of timing and mechanism on outcome. 61
32031596 2020
14
Clinical Outcomes and Risk Factors for In-Hospital Mortality in Neonates with Hypoplastic Left Heart Syndrome. 61
32008059 2020
15
Serial fetal echocardiograms in hypoplastic left heart syndrome fetuses: Does it affect immediate post-natal care? 61
31785958 2020
16
A shunt decision-making protocol in the surgical palliation of hypoplastic left heart syndrome from 2004 to 2016. 61
32034901 2020
17
Transplantation-free Survival after Norwood surgery for Hypoplastic Left Heart Syndrome with Aortic Atresia. A Swedish National Cohort Study. - ERRATUM. 61
32014078 2020
18
Outcomes of hypoplastic left heart syndrome: analysis of National Inpatient Sample Database 1998-2004 versus 2005-2014. 61
31741094 2020
19
Arch intervention following stage 1 palliation in hypoplastic left heart syndrome is associated with slower feed advancement: a report from the National Pediatric Quality Cardiology Improvement Collaborative. 61
32008590 2020
20
Sinus Superflex DS© early collapse in systemic arterial duct. 61
32014071 2020
21
Surgical repair of peripheral pulmonary artery stenosis in patients without williams or alagille syndromes. 61
31958550 2020
22
Heart transplantation and in-hospital outcomes in adult congenital heart disease patients with Fontan: A decade nationwide analysis from 2004 to 2014. 61
31971277 2020
23
Transplantation-free survival after Norwood surgery for hypoplastic left heart syndrome with aortic atresia: A Swedish national cohort study. 61
31920189 2020
24
Association of left ventricular size with regional right ventricular mechanics in Hypoplastic Left Heart Syndrome. 61
31402159 2020
25
Comparison of Semi-Automated Versus Manual Quantitative Right Ventricular Assessment in Hypoplastic Left Heart Syndrome. 61
31659391 2020
26
Hypoplastic left heart syndrome with prenatally diagnosed foramen ovale restriction: diagnosis, management and outcome. 61
31986935 2020
27
The Progress and Significance of QRS Duration by Electrocardiography in Hypoplastic Left Heart Syndrome. 61
31722042 2020
28
Utility of Cervical Cannulation During Difficult Resternotomy in Congenital Heart Surgery. 61
31835977 2020
29
Disturbed regional right heart mechanics assessed by strain echocardiography in genetically diverse hypoplastic left heart syndrome. 61
31901266 2020
30
Cerebral blood flow dynamic in foetuses with hypoplastic left heart syndrome: Incremental value of the first segment of the anterior cerebral artery over the middle cerebral artery? 61
31525274 2020
31
Simultaneous Volumetric and Functional Assessment of the Right Ventricle in Hypoplastic Left Heart Syndrome After Fontan Palliation, Utilizing 3-Dimensional Speckle-Tracking Echocardiography. 61
31932561 2020
32
Geometry of the pulmonary arteries before the Fontan operation: can we influence it during the Norwood procedure? 61
31995168 2020
33
Effects of levosimendan on ventriculo-arterial coupling and cardiac efficiency in paediatric patients with single-ventricle physiology after surgical palliation: retrospective study. 61
31986196 2020
34
Identification of Time-Dependent Risks of Hemodynamic States After Stage 1 Norwood Palliation. 61
31404548 2020
35
Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with high nuchal translucency, tricuspid regurgitation and abnormal flow in the ductus venosus. 61
31875326 2019
36
Anticipation, Accompaniment, and a Good Death in Perinatal Care. 61
31866789 2019
37
The Benefits and Bias in Neurodevelopmental Evaluation for Children with Congenital Heart Disease. 61
31865442 2019
38
Primary Transplantation for Congenital Heart Disease in the Neonatal Period: Long-term Outcomes. 61
31362016 2019
39
Fetal cardiac findings and hemodynamic changes associated with severe lower urinary tract obstruction in utero. 61
30908816 2019
40
Early Neurodevelopmental Outcomes in Children with Hypoplastic Left Heart Syndrome and Related Anomalies After Hybrid Procedure. 61
31471627 2019
41
Autologous stem cell therapy for hypoplastic left heart syndrome: Safety and feasibility of intraoperative intramyocardial injections. 61
31345560 2019
42
Intravascular Papillary Endothelial Hyperplasia in the Coronary Artery: An Unusual Cause of Massive Myocardial Infarction in Hypoplastic Left Heart Syndrome. 61
31084387 2019
43
Recoarctation of the aorta after the Norwood procedure may be treated during the second stage of the surgical palliation. 61
31740973 2019
44
Choice of shunt type for the Norwood I procedure: does it make a difference? 61
31821450 2019
45
Risk Factors for Prolonged Pleural Effusion After Extracardiac Fontan Operation. 61
31435694 2019
46
Fetal cardiac intervention-Perspectives from a single center. 61
31875330 2019
47
Expression of connexin-43 in the cardiac muscle of children diagnosed with hypoplastic left heart syndrome: a Western blot and confocal laser scanning microscopy study. 61
31845643 2019
48
Electroencephalographic patterns preceding cardiac arrest in neonates following cardiac surgery. 61
31560988 2019
49
Hypoplastic left heart syndrome with regressed ventriculocoronary fistulae after the Norwood operation. 61
31784884 2019
50
Variation in care for children undergoing the Fontan operation for hypoplastic left heart syndrome. 61
31767043 2019
Sources

Variations for Hypoplastic Left Heart Syndrome

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ClinVar genetic disease variations for Hypoplastic Left Heart Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBX20 NM_001077653.2(TBX20):c.995del (p.Pro332fs)deletion Pathogenic 438266 rs1554284604 7:35244090-35244090 7:35204478-35204478
2 TBX4 NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter)SNV Pathogenic 638159 17:59544871-59544871 17:61467510-61467510
3 46;XY;inv(10)(q21.2q22.3)patinversion Likely pathogenic 267958
4 HAND1 NM_004821.3(HAND1):c.187C>T (p.Pro63Ser)SNV Uncertain significance 656575 5:153857382-153857382 5:154477822-154477822
5 HAND1 NM_004821.3(HAND1):c.257A>T (p.Glu86Val)SNV Uncertain significance 528329 rs1177737621 5:153857312-153857312 5:154477752-154477752
6 CFAP53 NM_145020.5(CFAP53):c.46C>T (p.Pro16Ser)SNV Uncertain significance 560610 rs375198063 18:47792729-47792729 18:50266359-50266359
7 TBX1 NM_080647.1(TBX1):c.1447G>A (p.Gly483Arg)SNV Uncertain significance 560627 rs541198585 22:19754349-19754349 22:19766826-19766826
8 HAND1 NM_004821.3(HAND1):c.531G>C (p.Arg177=)SNV Benign 413857 rs34198899 5:153857038-153857038 5:154477478-154477478
9 HAND1 NM_004821.3(HAND1):c.468T>G (p.Ser156=)SNV Benign 413856 rs34402828 5:153857101-153857101 5:154477541-154477541

Copy number variations for Hypoplastic Left Heart Syndrome from CNVD:

7 (show all 21)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 14068 1 103830000 103950000 Deletion Hypoplastic left heart syndrome
2 21589 1 159750000 159870000 Duplication Hypoplastic left heart syndrome
3 25802 1 194970000 195150000 Deletion Hypoplastic left heart syndrome
4 42872 10 41970000 42150000 Deletion Hypoplastic left heart syndrome
5 43118 10 44550000 44670000 Duplication Hypoplastic left heart syndrome
6 66481 12 29999 149999 Duplication Hypoplastic left heart syndrome
7 67101 12 36330000 36690000 Duplication Hypoplastic left heart syndrome
8 75411 13 19710000 19950000 Deletion Hypoplastic left heart syndrome
9 86813 14 65790000 65910000 Deletion Hypoplastic left heart syndrome
10 89821 15 19110000 20070000 Duplication Hypoplastic left heart syndrome
11 90056 15 19890000 20010000 Duplication Hypoplastic left heart syndrome
12 90977 15 26730000 26910000 Duplication Hypoplastic left heart syndrome
13 105401 16 79469999 80189999 Duplication Hypoplastic left heart syndrome
14 113091 17 41730000 41910000 Duplication Hypoplastic left heart syndrome
15 135332 2 113909999 114089999 Deletion Hypoplastic left heart syndrome
16 157162 21 13530000 13650000 Deletion Hypoplastic left heart syndrome
17 157211 21 13949999 14129999 Deletion Hypoplastic left heart syndrome
18 157986 21 28170000 28230000 Deletion Hypoplastic left heart syndrome
19 160077 21 9750000 9870000 Deletion Hypoplastic left heart syndrome
20 213658 6 49949999 50009999 Duplication Hypoplastic left heart syndrome
21 217526 7 101789999 101909999 Duplication Hypoplastic left heart syndrome
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Expression for Hypoplastic Left Heart Syndrome

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Search GEO for disease gene expression data for Hypoplastic Left Heart Syndrome.
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Pathways for Hypoplastic Left Heart Syndrome

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Pathways related to Hypoplastic Left Heart Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Gap junction hsa04540

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

# Super pathways Score Top Affiliating Genes
1
cGMP-PKG signaling pathway 36
Show member pathways
 12.23 TNNI3 NPPB NPPA MYH6
2
Mesodermal Commitment Pathway 1
Show member pathways
 12.14 TBX1 SMAD6 NOTCH1 HAND1 FOXC2
3
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.75 TNNI3 NOTCH1 NKX2-5 GJA1
4
Neural Crest Differentiation 1
11.59 NOTCH1 HAND1 CDH2
5
Cardiac Progenitor Differentiation 1
11.08 TNNI3 TBX20 NOTCH1 NKX2-5 MYH6
6
Heart Development 1
10.76 TBX20 TBX1 NOTCH1 NKX2-5 HAND1 FOXC2
7
Cardiomyocyte Differentiation through BMP Receptors 63
10.67 NPPB NPPA NKX2-5
8
HOP Signaling 63
10.15 NPPA NKX2-5
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GO Terms for Hypoplastic Left Heart Syndrome

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Cellular components related to Hypoplastic Left Heart Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10 TBX4 TBX20 TBX1 SMAD6 RBFOX2 NPPB
2 nuclear chromatin GO:0000790 9.28 TBX4 TBX20 TBX1 SMAD6 NKX2-5 HAND1
3 fascia adherens GO:0005916 8.96 GJA1 CDH2

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

(show top 50) (show all 51)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.19 TBX4 TBX20 TBX1 NOTCH1 NKX2-5 HAND1
2 regulation of transcription, DNA-templated GO:0006355 10.19 TBX4 TBX20 TBX1 SMAD6 NOTCH1 NKX2-5
3 multicellular organism development GO:0007275 10.17 TBX4 TBX20 TBX1 NOTCH1 NKX2-5 HAND1
4 regulation of transcription by RNA polymerase II GO:0006357 10.14 TBX1 NOTCH1 NKX2-5 FOXP1 FOXL1 FOXC2
5 positive regulation of transcription, DNA-templated GO:0045893 10.09 TBX20 TBX1 NOTCH1 NKX2-5 HAND1 FOXC2
6 negative regulation of transcription, DNA-templated GO:0045892 10.04 TBX20 RBFOX2 NOTCH1 NKX2-5 HAND1 FOXP1
7 negative regulation of transcription by RNA polymerase II GO:0000122 9.97 TBX4 TBX20 TBX1 NOTCH1 NKX2-5 LEP
8 angiogenesis GO:0001525 9.95 TBX4 TBX1 NOTCH1 LEP HAND1
9 response to lipopolysaccharide GO:0032496 9.93 SMAD6 NOTCH1 GJA1 FOXP1
10 positive regulation of MAPK cascade GO:0043410 9.89 TBX1 LEP CDH2
11 muscle contraction GO:0006936 9.88 TNNI3 TBX20 MYH6 GJA1
12 positive regulation of cold-induced thermogenesis GO:0120162 9.83 LEP LCN2 GJA1 EHMT1
13 vasculogenesis GO:0001570 9.81 TNNI3 TBX20 NKX2-5
14 heart morphogenesis GO:0003007 9.81 TBX1 NKX2-5 FOXC2
15 cardiac muscle contraction GO:0060048 9.79 TNNI3 NKX2-5 MYH6
16 regulation of blood pressure GO:0008217 9.78 NPPB NPPA MYH6 LEP
17 aortic valve morphogenesis GO:0003180 9.75 TBX20 SMAD6 NOTCH1
18 outflow tract morphogenesis GO:0003151 9.73 TBX20 TBX1 NOTCH1 NKX2-5
19 pharyngeal system development GO:0060037 9.71 TBX1 NKX2-5
20 negative regulation of myotube differentiation GO:0010832 9.71 NOTCH1 NKX2-5
21 cell fate specification GO:0001708 9.71 TBX4 TBX20 TBX1 NOTCH1
22 endocardial cushion morphogenesis GO:0003203 9.7 TBX20 NOTCH1
23 glial cell differentiation GO:0010001 9.7 NOTCH1 CDH2
24 striated muscle contraction GO:0006941 9.7 TNNI3 MYH6
25 ventricular trabecula myocardium morphogenesis GO:0003222 9.7 NOTCH1 NKX2-5
26 heart contraction GO:0060047 9.69 TNNI3 NKX2-5
27 pulmonary valve morphogenesis GO:0003184 9.69 SMAD6 NOTCH1
28 cardiac septum morphogenesis GO:0060411 9.69 NOTCH1 HAND1
29 cardiac muscle tissue morphogenesis GO:0055008 9.69 TBX20 NOTCH1 NKX2-5
30 cardiac muscle hypertrophy in response to stress GO:0014898 9.68 NPPA MYH6
31 adult heart development GO:0007512 9.68 NKX2-5 MYH6
32 atrial septum morphogenesis GO:0060413 9.68 TBX20 NKX2-5
33 negative regulation of systemic arterial blood pressure GO:0003085 9.68 NPPB NPPA
34 lymph vessel development GO:0001945 9.67 TBX1 FOXC2
35 embryonic viscerocranium morphogenesis GO:0048703 9.67 TBX1 FOXC2
36 cGMP biosynthetic process GO:0006182 9.67 NPPB NPPA
37 outflow tract septum morphogenesis GO:0003148 9.67 TBX20 TBX1 SMAD6 NKX2-5
38 receptor guanylyl cyclase signaling pathway GO:0007168 9.66 NPPB NPPA
39 cardiac ventricle morphogenesis GO:0003208 9.65 NOTCH1 NKX2-5
40 coronary artery morphogenesis GO:0060982 9.65 TBX1 NOTCH1
41 pericardium morphogenesis GO:0003344 9.65 TBX20 NOTCH1
42 cardiac muscle cell proliferation GO:0060038 9.63 NOTCH1 NKX2-5 FOXC2
43 negative regulation of SMAD protein complex assembly GO:0010991 9.62 TBX20 SMAD6
44 glomerular mesangial cell development GO:0072144 9.61 NOTCH1 FOXC2
45 cardiac right ventricle formation GO:0003219 9.6 NOTCH1 HAND1
46 atrioventricular node development GO:0003162 9.59 NOTCH1 NKX2-5
47 cardiac chamber formation GO:0003207 9.56 TBX20 NOTCH1
48 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.56 TNNI3 MYH6 HAND1 FOXC2
49 heart looping GO:0001947 9.55 TBX20 TBX1 NOTCH1 NKX2-5 HAND1
50 embryonic heart tube development GO:0035050 9.26 TBX20 NKX2-5 HAND1 FOXC2

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.09 TBX4 TBX20 TBX1 SMAD6 NKX2-5 HAND1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.8 TBX20 SMAD6 NOTCH1 NKX2-5 HAND1 FOXC2
3 transcription regulatory region DNA binding GO:0044212 9.76 SMAD6 NKX2-5 HAND1 FOXC2
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.73 TBX4 TBX20 TBX1 NOTCH1 NKX2-5 FOXC2
5 sequence-specific DNA binding GO:0043565 9.7 TBX1 NOTCH1 NKX2-5 HAND1 FOXP1 FOXL1
6 hormone activity GO:0005179 9.65 NPPB NPPA LEP
7 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.61 TBX4 TBX20 TBX1 SMAD6 NKX2-5 HAND1
8 RNA polymerase II activating transcription factor binding GO:0001102 9.58 TBX4 TBX20 TBX1
9 hormone receptor binding GO:0051427 9.37 NPPB NPPA
10 DNA-binding transcription factor activity GO:0003700 9.28 TBX4 TBX20 TBX1 SMAD6 NOTCH1 NKX2-5
Sources

Sources for Hypoplastic Left Heart Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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