HLHS
MCID: HYP055
MIFTS: 63

Hypoplastic Left Heart Syndrome (HLHS)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Hypoplastic Left Heart Syndrome

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:

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

Summaries for Hypoplastic Left Heart Syndrome

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 Vasopressins 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...

Related Diseases for Hypoplastic Left Heart Syndrome

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 hypoplastic right heart syndrome 33.2 TBX20 NKX2-5
4 aortic valve disease 2 33.0 TNNI3 SMAD6 NPPB NPPA NOTCH1 NKX2-5
5 heart septal defect 31.9 TBX20 TBX1 NPPA NOTCH1 NKX2-5 MYH6
6 patent ductus arteriosus 1 31.7 TBX20 TBX1 NPPB NOTCH1 NKX2-5 MYH6
7 atrial heart septal defect 31.6 TNNI3 TBX20 TBX1 NPPB NPPA NOTCH1
8 double outlet right ventricle 31.4 TBX20 TBX1 NOTCH1 NKX2-5 MYH6 HAND1
9 ventricular septal defect 31.4 NPPB NPPA NOTCH1 NKX2-5 HAND1 FOXP1
10 atrioventricular septal defect 31.3 TBX20 TBX1 NKX2-5 GJA1 FOXP1
11 congestive heart failure 31.2 TNNI3 NPPB NPPA MYH6
12 patent foramen ovale 31.2 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 ebstein anomaly 30.8 TBX20 NPPB NKX2-5 MYH6
19 anomalous left coronary artery from the pulmonary artery 30.7 NPPB GJA1
20 pericardial effusion 30.7 TNNI3 NPPB NPPA
21 lipoprotein quantitative trait locus 30.5 TNNI3 TBX1 NPPB NPPA NKX2-5 MYH6
22 tetralogy of fallot 30.4 TNNI3 TBX20 TBX1 RBFOX2 NPPB NPPA
23 dilated cardiomyopathy 30.3 TNNI3 TBX20 NPPB NPPA NKX2-5 MYH6
24 heart disease 30.1 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 hemophagocytic lymphohistiocytosis 11.7
29 griscelli syndrome, type 2 11.6
30 griscelli syndrome 11.6
31 critical congenital heart disease 11.6
32 macrophage activation syndrome 11.5
33 t-cell lymphoma, subcutaneous panniculitis-like 11.4
34 lymphoproliferative syndrome, x-linked, 2 11.3
35 ritscher-schinzel syndrome 1 11.3
36 cardiomyopathy, infantile histiocytoid 11.3
37 ventricular septal defect 3 11.3
38 congenital heart defects, multiple types, 4 11.3
39 aortic valve disease 3 11.3
40 webb-dattani syndrome 11.2
41 single ventricular heart 10.9
42 tricuspid valve insufficiency 10.8
43 cardiac arrest 10.8
44 mitral atresia 10.7
45 mitral valve stenosis 10.7
46 interatrial communication 10.7
47 heart, malformation of 10.6 NOTCH1 NKX2-5 MYH6
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 intracortical osteogenic sarcoma 10.6 LEP CDH2

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



Diseases related to Hypoplastic Left Heart Syndrome

Symptoms & Phenotypes for Hypoplastic Left Heart Syndrome

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 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
4 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
5 maternal diabetes 58 31 occasional (7.5%) Occasional (29-5%) HP:0009800
6 mitral stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001718
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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.47 CDH2 GJA1
2 Decreased viability GR00249-S 9.47 CDH2 FOXL1 LCN2 NPPA RBFOX2 TBX4
3 Decreased viability GR00381-A-1 9.47 TBX1
4 Decreased viability GR00386-A-1 9.47 CDH2 MYH6 NOTCH1 RBFOX2
5 Decreased viability GR00402-S-2 9.47 NPPA

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

Drugs & Therapeutics for Hypoplastic Left Heart Syndrome

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

(show top 50) (show all 54)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hemostatics Phase 2, Phase 3
2 Vasopressins Phase 2, Phase 3
3 Vasoconstrictor Agents Phase 2, Phase 3
4 Arginine Vasopressin Phase 2, Phase 3
5 Coagulants Phase 2, Phase 3
6
Arginine Investigational, Nutraceutical Phase 2, Phase 3 74-79-3 6322
7
Sodium citrate Approved, Investigational Phase 2 68-04-2
8
Bosentan Approved, Investigational Phase 2 147536-97-8 104865
9
Ambrisentan Approved, Investigational Phase 2 177036-94-1 6918493
10
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
11
Racepinephrine Approved Phase 2 329-65-7 838
12
Oxandrolone Approved, Investigational Phase 1, Phase 2 53-39-4 5878
13
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
14 Kava Approved, Investigational, Nutraceutical Phase 2 9000-38-8
15 Phosphodiesterase 5 Inhibitors Phase 2
16 Phosphodiesterase Inhibitors Phase 2
17 Citrate Phase 2
18 Sildenafil Citrate Phase 2 171599-83-0
19 Endothelin Receptor Antagonists Phase 2
20 Hematinics Phase 1, Phase 2
21 Epoetin alfa Phase 1, Phase 2 113427-24-0
22 Epinephryl borate Phase 2
23 Hormones Phase 1, Phase 2
24 Hormone Antagonists Phase 1, Phase 2
25 Anabolic Agents Phase 1, Phase 2
26 Androgens Phase 1, Phase 2
27
Dexmedetomidine Approved, Vet_approved Phase 1 113775-47-6 5311068 68602
28 Poractant alfa Approved Phase 1 129069-19-8
29 Adrenergic alpha-Agonists Phase 1
30 Hypnotics and Sedatives Phase 1
31 Analgesics, Non-Narcotic Phase 1
32 Analgesics Phase 1
33 Adrenergic Agonists Phase 1
34 Respiratory System Agents Phase 1
35 Pulmonary Surfactants Phase 1
36
Dopamine Approved 51-61-6, 62-31-7 681
37
Caffeine Approved 58-08-2 2519
38
Bupropion Approved 34911-55-2, 34841-39-9 444
39
Ethanol Approved 64-17-5 702
40
Vitamin C Approved, Nutraceutical 50-81-7 5785 54670067
41 Antibodies
42 Immunoglobulins
43 Cytochrome P-450 Enzyme Inhibitors
44 Dopamine Agents
45 Vitamins
46 Antidepressive Agents
47 Psychotropic Drugs
48 Antidepressive Agents, Tricyclic
49 Trace Elements
50 Micronutrients

Interventional clinical trials:

(show top 50) (show all 83)
# 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 Phase 2 Study of Intracoronary Infusion of Cardiac Progenitor Cells in Patients With Univentricular Heart Disease Completed NCT01829750 Phase 2
6 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
7 The Sildenafil After Fontan Operation Study Completed NCT00507819 Phase 2 Sildenafil;Placebo
8 Erythropoetin Neuroprotection for Neonatal Cardiac Surgery Completed NCT00513240 Phase 1, Phase 2 Erythropoetin;Normal saline
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 Pilot Study to Assess the Efficacy of Autologous Umbilical Cord Blood Treatment of Brain and Heart Injury in Neonates With Congenital Heart Defect Recruiting NCT03558269 Phase 1, Phase 2
13 Use of Oxandrolone to Promote Growth in Infants With Hypoplastic Left Heart Syndrome: A Phase I/II Pilot Study Recruiting NCT04090697 Phase 1, Phase 2 Oxandrolone
14 Maternal Hyperoxygenation in Congenital Heart Disease Recruiting NCT03136835 Phase 1, Phase 2 Maternal Hyperoxygenation
15 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
16 Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery Withdrawn NCT00770705 Phase 2 Phenoxybenzamine
17 Phase I Study of Cardiac Progenitor Cell Therapy in Patients With Single Ventricle Physiology Completed NCT01273857 Phase 1
18 The Pharmacokinetics and Pharmacodynamics of Dexmedetomidine in Neonates Following Open Heart Surgery Completed NCT00576381 Phase 1 Dexmedetomidine
19 The Pharmacokinetics, Pharmacogenetics, and Pharmacodynamics of Dexmedetomidine In Infants Post-Operative From Cardiac Surgery Completed NCT00573066 Phase 1 Dexmedetomidine
20 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
21 A Pilot Study of the Safety and Efficacy of Oxandrolone in the Prevention and Treatment of Malnutrition in Infants After Cardiac Surgery Completed NCT01048632 Phase 1 Oxandrolone
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 Autologous Cardiac Stem Cell Injection in Patients With Hypoplastic Left Heart Syndrome: An Open Label Pilot Study. Recruiting NCT03406884 Phase 1
24 The Cold Heart Study: A Randomized Pilot Trial of Surfactant Therapy Following Deep Hypothermic Circulatory Arrest During Cardiac Surgery Recruiting NCT04181255 Phase 1 Curosurf;Sham
25 Phase I Safety Study of Autologous Umbilical Cord Blood Derived Mononuclear Cells During Surgical Stage II Palliation of Hypoplastic Left Heart Syndrome Active, not recruiting NCT01883076 Phase 1
26 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
27 Autologous Cord Blood Cells for Patients With HLHS: Phase I Study of Feasibility and Safety Terminated NCT01445041 Phase 1
28 Abnormal Neurodevelopment Detection in Congenital Heart Disease: Predictive Methods Based on Prenatal and Postnatal Factors. Unknown status NCT02996630
29 Neurodevelopmental Outcomes in Hypoplastic Left Heart Syndrome—Correlation With Cerebral Non-invasive Infrared Spectroscopy (NIRS) Completed NCT00399555
30 Family Stress, Coping and Outcomes Following the Diagnosis of Hypoplastic Left Heart Syndrome in a Newborn Completed NCT00734643
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 The Impact of Family Factors on Developmental and Psychosocial Outcomes in Children With Hypoplastic Left Heart Syndrome (HLHS) at 6 Years of Age - Pediatric Heart Network Single Ventricle Reconstruction Extension (SVR II) Ancillary Study Completed NCT01582529
36 Evaluation of Maternal B-hemolytic Streptococcal Pharyngeal Exposure in Pregnancies Affected by Congenital Heart Disease(CHD) Completed NCT01603732
37 The Examination of Outcome in Children With Single Ventricle Physiology Completed NCT00308217
38 Computer Modeling of Congenital Heart Disease Completed NCT00366847
39 Identification of Biomarkers for Heart Failure in Children With Single Ventricle Physiology Completed NCT00571233
40 Influence of Genetic Polymorphisms on Ventricular Structure and Function in Patients With Single Ventricle Anatomy Completed NCT00165984
41 Near Infrared Spectroscopy Monitoring of Cerebral Oxygen Saturation in Neonatal Cardiac Surgery - Comparison With Common Methods of Estimating Adequate Systemic Perfusion Completed NCT00166101
42 Randomized Controlled Trial on Deep Hypothermic Circulatory Arrest Versus Antegrade Cerebral Perfusion During Neonatal Cardiac Surgery Completed NCT01032876
43 Interstitial Colloid Osmotic Pressure in Children With Congenital Heart Defect Preparing for Fontan Surgery Undergoing Preoperative Catheterization and Surgery in General Anesthesia Completed NCT02306057
44 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
45 Vitamin C May Improve Endothelial Function and Exercise Capacity in Functional Single Ventricle Patients After Fontan Palliation Completed NCT00974025
46 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
47 Oxygen Saturation and Perfusion Index Screening ın Neonates at High Altitude Completed NCT04290481
48 A Retrospective Study of Hypoxemia in Infants After Palliative Neonatal Surgery for Congenital Heart Disease Completed NCT00327977
49 Quality of Life Among Children With Congenital Heart Disease Completed NCT01202916
50 Oxygen Consumption-based Assessments of Hemodynamics in Neonates Following Congenital Heart Surgery (Oxy-CAHN Study) Completed NCT02184169

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

Cochrane evidence based reviews: hypoplastic left heart syndrome

Genetic Tests for Hypoplastic Left Heart Syndrome

Genetic tests related to Hypoplastic Left Heart Syndrome:

# Genetic test Affiliating Genes
1 Hypoplastic Left Heart Syndrome 29

Anatomical Context for Hypoplastic Left Heart Syndrome

MalaCards organs/tissues related to Hypoplastic Left Heart Syndrome:

40
Heart, Lung, Brain, Skin, Liver, Testes, Endothelial

Publications for Hypoplastic Left Heart Syndrome

Articles related to Hypoplastic Left Heart Syndrome:

(show top 50) (show all 2861)
# Title Authors PMID Year
1
Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease. 6 61
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). 6 61
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
A shunt decision-making protocol in the surgical palliation of hypoplastic left heart syndrome from 2004 to 2016. 61
32034901 2020
11
Fetal aortic valvuloplasty: first report of two cases from Saudi Arabia. 61
32571360 2020
12
Ventricular and total brain volumes in infants with congenital heart disease: a longitudinal study. 61
32546829 2020
13
Frontal lobe growth is impaired in fetuses with congenital heart disease. 61
32573836 2020
14
Post-Left Atrium Space Index in Fetuses With Total Anomalous Pulmonary Venous Connection and Other Congenital Heart Diseases. 61
32491276 2020
15
Percutaneous coronary intervention following Fontan procedure. 61
32300638 2020
16
Tricuspid valve repair in children with hypoplastic left heart syndrome: impact of timing and mechanism on outcome. 61
32031596 2020
17
Retroaortic Innominate Vein in Hypoplastic Left Heart Syndrome: A Case Report. 61
32577592 2020
18
High-Takeoff Coronary Artery in Hypoplastic Left Heart Syndrome and Its Variant. 61
32109451 2020
19
Outcomes for the superior cavopulmonary connection in children with hypoplastic left heart syndrome: a 30-year experience. 61
32572451 2020
20
Catheter Ablation of Orthodromic Reciprocating Tachycardia and Atrioventricular Nodal Reentrant Tachycardia in Children with Hypoplastic Left Heart Syndrome. 61
32542917 2020
21
Surgical stented transcatheter valve-in-valve implantation in atrioventricular position in children. 61
32520450 2020
22
Geometry of the pulmonary arteries before the Fontan operation: can we influence it during the Norwood procedure? 61
31995168 2020
23
Estimating the optimal timing of surgery from observational data. 61
32506431 2020
24
Competing risks analysis of time-to-event data for cardiovascular surgeons. 61
31866080 2020
25
In-hospital interstage improves interstage survival after the Norwood stage 1 operation. 61
32236554 2020
26
Recurrent Pulmonary Artery Interventions Following the Norwood Procedure are not associated with Conduit Type. 61
32512161 2020
27
Commentary: Another Fly in the Ointment for the Treatment of HLHS? 61
32376464 2020
28
Effect of Atrioventricular Valve Repair on Multistage Palliation Results of Single Ventricle Defects. 61
32454017 2020
29
Etoposide-based therapy for severe forms of COVID-19. 61
32416415 2020
30
Extracorporeal Membrane Oxygenation After Glenn Procedure in a Child With Influenza B Pneumonia. 61
32294017 2020
31
Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus. 61
31875326 2020
32
Angiotensin-Converting Enzyme Inhibitor Prescription for Patients With Single Ventricle Physiology Enrolled in the NPC-QIC Registry. 61
32384002 2020
33
Hemophagocytic lymphohistiocytosis with advanced malignant melanoma accompanied by ipilimumab and nivolumab: A case report and literature review. 61
32191382 2020
34
Acute coronary artery obstruction following surgical repair of congenital heart disease. 61
31982128 2020
35
Improved National Outcomes Achieved in a Cardiac Learning Health Collaborative Based on Early Performance Level. 61
32417078 2020
36
Coronary artery embolism in a patient with Fontan palliation: a rare complication. 61
32468979 2020
37
Risk stratification of patients with hypoplastic left heart syndrome and intact atrial septum using fetal MRI and echocardiography. 61
32406345 2020
38
Decreased right ventricular longitudinal strain in children with hypoplastic left heart syndrome during staged repair and follow-up: does it have implications in clinically stable patients? 61
32363447 2020
39
Detection screening and seasonality evaluation of hypoplastic left heart syndrome in the polish national registry for fetal cardiac anomalies from the years 2004 to 2016. 61
32134135 2020
40
Heart rate variability is depressed in the early transitional period for newborns with complex congenital heart disease. 61
31240423 2020
41
Peritoneal dialysis during congenital heart surgery admissions: insights from a large database. 61
32133970 2020
42
Natural History of Hemodynamic Maturation Post Heart Transplantation in the Absence of Rejection. 61
32465812 2020
43
Fetal Aortic Valvuloplasty for Evolving Hypoplastic Left Heart Syndrome: A Decision Analysis. 61
32252549 2020
44
Clinical Outcomes and Risk Factors for In-Hospital Mortality in Neonates with Hypoplastic Left Heart Syndrome. 61
32008059 2020
45
Serial changes in longitudinal strain are associated with outcome in children with hypoplastic left heart syndrome. 61
32505372 2020
46
Health-related quality of life for children and adolescents in school age with hypoplastic left heart syndrome: a single-centre study. 61
32216849 2020
47
Impact of Confounding on Cost, Survival, and Length-of-Stay Outcomes for Neonates with Hypoplastic Left Heart Syndrome Undergoing Stage 1 Palliation Surgery. 61
32337623 2020
48
Anesthesia for bilateral pulmonary banding as part of hybrid stage I approach palliating neonates with hypoplastic left heart syndrome. 61
32291873 2020
49
Anti-Pig Antibody in Infants: Can a Genetically Engineered Pig Heart Bridge to Allotransplantation? 61
31580857 2020
50
Selective perfusion of coronary vasculature in preterm sheep: a methodological innovation undermined by unfavourable operation of the foramen ovale. 61
32202442 2020

Variations for Hypoplastic Left Heart Syndrome

ClinVar genetic disease variations for Hypoplastic Left Heart Syndrome:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.247G>T (p.Gly83Trp)SNV Benign/Likely benign 252637 rs201302313 5:153857322-153857322 5:154477762-154477762
9 HAND1 NM_004821.3(HAND1):c.162G>A (p.Pro54=)SNV Benign 695808 5:153857407-153857407 5:154477847-154477847
10 HAND1 NM_004821.3(HAND1):c.180G>A (p.Gly60=)SNV Benign 528330 rs369386099 5:153857389-153857389 5:154477829-154477829
11 HAND1 NM_004821.3(HAND1):c.531G>C (p.Arg177=)SNV Benign 413857 rs34198899 5:153857038-153857038 5:154477478-154477478
12 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

Expression for Hypoplastic Left Heart Syndrome

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

Pathways for Hypoplastic Left Heart Syndrome

Pathways related to Hypoplastic Left Heart Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Gap junction hsa04540

GO Terms for Hypoplastic Left Heart Syndrome

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 all 50)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.21 TBX4 TBX20 TBX1 SMAD6 NOTCH1 NKX2-5
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.19 TBX4 TBX20 TBX1 NOTCH1 NKX2-5 HAND1
3 regulation of transcription by RNA polymerase II GO:0006357 10.14 TBX1 NOTCH1 NKX2-5 HAND1 FOXP1 FOXL1
4 positive regulation of transcription, DNA-templated GO:0045893 10.1 TBX20 TBX1 NOTCH1 NKX2-5 HAND1 FOXC2
5 multicellular organism development GO:0007275 10.09 TBX4 TBX20 TBX1 NOTCH1 NKX2-5 HAND1
6 negative regulation of transcription, DNA-templated GO:0045892 10.05 TBX20 RBFOX2 NOTCH1 NKX2-5 HAND1 FOXP1
7 angiogenesis GO:0001525 9.97 TBX4 TBX1 NOTCH1 LEP HAND1
8 negative regulation of transcription by RNA polymerase II GO:0000122 9.97 TBX4 TBX20 TBX1 NOTCH1 NKX2-5 LEP
9 response to lipopolysaccharide GO:0032496 9.93 SMAD6 NOTCH1 GJA1 FOXP1
10 muscle contraction GO:0006936 9.88 TNNI3 TBX20 MYH6 GJA1
11 positive regulation of cold-induced thermogenesis GO:0120162 9.84 LEP LCN2 GJA1 EHMT1
12 vasculogenesis GO:0001570 9.82 TNNI3 TBX20 NKX2-5
13 heart morphogenesis GO:0003007 9.81 TBX1 NKX2-5 FOXC2
14 cardiac muscle contraction GO:0060048 9.79 TNNI3 NKX2-5 MYH6
15 regulation of blood pressure GO:0008217 9.78 NPPB NPPA MYH6 LEP
16 outflow tract morphogenesis GO:0003151 9.76 TBX20 TBX1 NOTCH1 NKX2-5
17 aortic valve morphogenesis GO:0003180 9.75 TBX20 SMAD6 NOTCH1
18 striated muscle contraction GO:0006941 9.71 TNNI3 MYH6
19 pharyngeal system development GO:0060037 9.71 TBX1 NKX2-5
20 cell fate specification GO:0001708 9.71 TBX4 TBX20 TBX1 NOTCH1
21 negative regulation of myotube differentiation GO:0010832 9.7 NOTCH1 NKX2-5
22 glial cell differentiation GO:0010001 9.7 NOTCH1 CDH2
23 endocardial cushion morphogenesis GO:0003203 9.7 TBX20 NOTCH1
24 ventricular trabecula myocardium morphogenesis GO:0003222 9.7 NOTCH1 NKX2-5
25 cardiac muscle tissue morphogenesis GO:0055008 9.7 TBX20 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 hypertrophy in response to stress GO:0014898 9.68 NPPA MYH6
30 adult heart development GO:0007512 9.68 NKX2-5 MYH6
31 negative regulation of systemic arterial blood pressure GO:0003085 9.68 NPPB NPPA
32 atrial septum morphogenesis GO:0060413 9.68 TBX20 NKX2-5
33 lymph vessel development GO:0001945 9.67 TBX1 FOXC2
34 embryonic viscerocranium morphogenesis GO:0048703 9.67 TBX1 FOXC2
35 cGMP biosynthetic process GO:0006182 9.67 NPPB NPPA
36 cardiac muscle cell proliferation GO:0060038 9.67 NOTCH1 NKX2-5 FOXC2
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 9.66 NOTCH1 NKX2-5
40 coronary artery morphogenesis GO:0060982 9.65 TBX1 NOTCH1
41 pericardium morphogenesis GO:0003344 9.65 TBX20 NOTCH1
42 negative regulation of SMAD protein complex assembly GO:0010991 9.63 TBX20 SMAD6
43 glomerular mesangial cell development GO:0072144 9.61 NOTCH1 FOXC2
44 cardiac right ventricle formation GO:0003219 9.61 NOTCH1 HAND1
45 atrioventricular node development GO:0003162 9.59 NOTCH1 NKX2-5
46 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.56 TNNI3 MYH6 HAND1 FOXC2
47 cardiac chamber formation GO:0003207 9.55 TBX20 NOTCH1
48 heart looping GO:0001947 9.55 TBX20 TBX1 NOTCH1 NKX2-5 HAND1
49 embryonic heart tube development GO:0035050 9.26 TBX20 NKX2-5 HAND1 FOXC2
50 heart development GO:0007507 9.23 TNNI3 TBX1 NOTCH1 NKX2-5 HAND1 GJA1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.02 TBX4 TBX20 TBX1 SMAD6 NKX2-5 LEP
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.85 TBX20 SMAD6 NOTCH1 NKX2-5 HAND1 FOXC2
3 transcription regulatory region sequence-specific DNA binding GO:0000976 9.8 SMAD6 NKX2-5 HAND1 FOXC2
4 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.8 TBX4 TBX20 TBX1 HAND1 FOXC2
5 transcription regulatory region DNA binding GO:0044212 9.78 SMAD6 NKX2-5 HAND1 FOXC2
6 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.73 TBX4 TBX20 TBX1 NOTCH1 NKX2-5 FOXC2
7 sequence-specific DNA binding GO:0043565 9.7 TBX1 NOTCH1 NKX2-5 HAND1 FOXP1 FOXL1
8 hormone activity GO:0005179 9.69 NPPB NPPA LEP
9 RNA polymerase II activating transcription factor binding GO:0001102 9.61 TBX4 TBX20 TBX1
10 DNA-binding transcription factor activity GO:0003700 9.61 TBX4 TBX20 TBX1 SMAD6 NOTCH1 NKX2-5
11 hormone receptor binding GO:0051427 9.46 NPPB NPPA
12 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.28 TBX4 TBX20 TBX1 SMAD6 NKX2-5 HAND1

Sources for Hypoplastic Left Heart Syndrome

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
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