MCID: HYP055
MIFTS: 62

Hypoplastic Left Heart Syndrome

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

Aliases & Classifications for Hypoplastic Left Heart Syndrome

MalaCards integrated aliases for Hypoplastic Left Heart Syndrome:

Name: Hypoplastic Left Heart Syndrome 38 12 76 53 59 37 29 6 44 15 73
Hlhs 53 59
Heart, Hypoplastic Left, Syndrome 40

Characteristics:

Orphanet epidemiological data:

59
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:



External Ids:

Disease Ontology 12 DOID:9955
ICD10 33 Q23.4
ICD9CM 35 746.7
MeSH 44 D018636
NCIt 50 C98894
SNOMED-CT 68 62067003
Orphanet 59 ORPHA2248
MESH via Orphanet 45 D018636
UMLS via Orphanet 74 C0152101
ICD10 via Orphanet 34 Q23.4
KEGG 37 H01272
UMLS 73 C0152101

Summaries for Hypoplastic Left Heart Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2248Disease definitionHypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis.EpidemiologyHLHS has been reported to occur in 1-2 in 6250 live births.Clinical descriptionNewborn infants with the condition are generally born at full term and initially appear healthy. As the arterial duct closes, systemic perfusion decreases, resulting in hypoxemia, acidosis, and cardiogenic shock. Usually, no heart murmur (or a non-specific heart murmur) is detected. The second heart sound is loud and single because of aortic atresia. Often the liver is enlarged secondary to congestive heart failure.EtiologyThe embryologic cause of the disease, as in the case of most congenital cardiac defects, is not fully known.Diagnostic methodsThe most useful diagnostic modality is the echocardiogram.Differential diagnosisDifferential diagnosis includes other left-sided obstructive lesions where the systemic circulation is dependent on ductal flow (critical aortic stenosis, coarctation of the aorta, interrupted aortic arch: see these terms).Antenatal diagnosisThe syndrome can be diagnosed by fetal echocardiography between 18 and 22 weeks of gestation.Management and treatmentChildren with the syndrome require neonatal surgery, as they have duct-dependent systemic circulation. Currently, there are two major modalities, primary cardiac transplantation or a series of staged functionally univentricular palliations. The treatment chosen is dependent on the preference of the institution and its experience.PrognosisAlthough survival following initial surgical intervention has improved significantly over the last 20 years, significant mortality and morbidity are associated with both surgical strategies. As a result, pediatric cardiologists continue to be challenged by discussions with families regarding the initial decision relative to the treatment and long-term prognosis, particularly as information on long-term survival and quality of life for those born with the syndrome is limited.Visit the Orphanet disease page for more resources.

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 20), and among its related pathways/superpathways are Gap junction and Mesodermal Commitment Pathway. The drugs Bosentan and Citric Acid have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and endothelial, and related phenotypes are patent ductus arteriosus and mitral stenosis

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

Wikipedia : 76 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 109)
# Related Disease Score Top Affiliating Genes
1 hypoplastic left heart syndrome 1 35.1 FOXP1 GJA1 HAND1
2 aortic valve disease 1 30.8 NKX2-6 NOTCH1 NPPB TNNI3
3 atrial standstill 1 30.2 MYH6 NPPB TNNI3
4 kleefstra syndrome 30.0 EHMT1 NOTCH1
5 aortic valve disease 2 30.0 NKX2-6 NOTCH1 NPPA NPPB SMAD6 TNNI3
6 patent foramen ovale 29.7 MYH6 NKX2-5 TBX20
7 arteries, anomalies of 29.6 LEP NPPB TNNI3
8 tricuspid atresia 29.5 NKX2-5 NKX2-6
9 coronary artery anomaly 29.3 GJA1 NPPA NPPB TNNI3
10 ebstein anomaly 29.3 NKX2-5 NKX2-6 NPPB
11 atrial heart septal defect 28.7 MYH6 NKX2-5 NKX2-6 TBX20
12 double outlet right ventricle 28.5 HAND1 NKX2-5 NKX2-6 TBX20
13 heart disease 25.5 GATA5 GJA1 HAND1 MYH6 NKX2-5 NKX2-6
14 hypoplastic left heart syndrome 2 12.6
15 hemophagocytic lymphohistiocytosis 12.0
16 griscelli syndrome, type 2 11.3
17 ritscher-schinzel syndrome 1 11.0
18 cardiomyopathy, infantile histiocytoid 11.0
19 ventricular septal defect 3 11.0
20 hypoplastic right heart syndrome 11.0
21 heart, malformation of 10.6 MYH6 NOTCH1
22 lymphedema-distichiasis syndrome 10.6 FOXC2 FOXL1
23 distichiasis 10.5 FOXC2 FOXL1
24 hereditary lymphedema 10.5 FOXC2 FOXL1
25 cardiomyopathy, dilated, 1e 10.5 CDH2 GJA1 NKX2-5
26 familial bicuspid aortic valve 10.4 GATA5 NKX2-5 NOTCH1 SMAD6
27 deafness, autosomal recessive 79 10.4 EHMT1 NOTCH1
28 cerebritis 10.3
29 aging 10.2
30 aneurysm 10.2
31 transposition of the great arteries 10.2
32 right aortic arch 10.2
33 diaphragmatic hernia, congenital 10.1
34 endocardial fibroelastosis 10.1
35 enterocolitis 10.1
36 cor triatriatum 10.1
37 interatrial communication 10.1
38 myocarditis 10.1 MYH6 NPPB TNNI3
39 kabuki syndrome 1 10.0
40 perinatal necrotizing enterocolitis 10.0
41 atrial septal defect 4 10.0 MYH6 NKX2-5 TBX20
42 holt-oram syndrome 10.0
43 pagod syndrome 10.0
44 omphalocele 10.0
45 microcephaly 10.0
46 turner syndrome 10.0
47 pulmonary valve stenosis 10.0
48 aortic coarctation 10.0
49 cor triatriatum sinister 10.0
50 pentalogy of cantrell 10.0

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:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
2 mitral stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001718
3 maternal diabetes 59 32 occasional (7.5%) Occasional (29-5%) HP:0009800
4 hypoplastic aortic arch 59 32 frequent (33%) Frequent (79-30%) HP:0012304
5 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
6 abnormality of chromosome segregation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002916
7 hypoplastic left heart 59 32 hallmark (90%) Very frequent (99-80%) HP:0004383
8 mitral atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011560

MGI Mouse Phenotypes related to Hypoplastic Left Heart Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.35 HAND1 FOXC2 TBX20 NKX2-6 LEP TNNI3
2 cellular MP:0005384 10.23 NKX2-5 HAND1 TBX20 FOXL1 NKX2-6 LEP
3 homeostasis/metabolism MP:0005376 10.2 SMAD6 HAND1 FOXC2 TBX20 NKX2-6 LEP
4 mortality/aging MP:0010768 10.16 SMAD6 HAND1 FOXC2 TBX20 NKX2-6 FOXL1
5 growth/size/body region MP:0005378 10.15 NKX2-5 FOXC2 HAND1 TBX20 FOXL1 NKX2-6
6 embryo MP:0005380 10.1 HAND1 FOXC2 TBX20 NKX2-6 LEP NOTCH1
7 muscle MP:0005369 10 TBX20 LEP TNNI3 GATA5 NOTCH1 CDH2
8 digestive/alimentary MP:0005381 9.98 NKX2-5 FOXC2 HAND1 FOXL1 GATA5 LEP
9 normal MP:0002873 9.56 NKX2-5 FOXC2 HAND1 TBX20 NKX2-6 NOTCH1
10 respiratory system MP:0005388 9.28 NKX2-5 HAND1 FOXC2 NKX2-6 LEP NOTCH1

Drugs & Therapeutics for Hypoplastic Left Heart Syndrome

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

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bosentan Approved, Investigational Phase 2 147536-97-8 104865
2
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2,Phase 1 77-92-9 311
3 Phosphodiesterase 5 Inhibitors Phase 2,Phase 1
4 Phosphodiesterase Inhibitors Phase 2,Phase 1
5 Sildenafil Citrate Phase 2,Phase 1 171599-83-0
6 Vasodilator Agents Phase 2,Phase 1
7 Antihypertensive Agents Phase 2
8 Endothelin Receptor Antagonists Phase 2
9 Adrenergic Agents Phase 2,Phase 1
10 Anesthetics Phase 2
11 Neurotransmitter Agents Phase 2,Phase 1
12 Epoetin alfa Phase 1, Phase 2 113427-24-0
13 Hematinics Phase 1, Phase 2
14 Citrate Nutraceutical Phase 2,Phase 1
15
Dexmedetomidine Approved, Vet_approved Phase 1 113775-47-6 68602 5311068
16 Adrenergic Agonists Phase 1
17 Adrenergic alpha-2 Receptor Agonists Phase 1
18 Adrenergic alpha-Agonists Phase 1
19 Analgesics Phase 1
20 Analgesics, Non-Narcotic Phase 1
21 Central Nervous System Depressants Phase 1
22 Hypnotics and Sedatives Phase 1
23 Peripheral Nervous System Agents Phase 1
24
Bupropion Approved 34841-39-9, 34911-55-2 444
25
Dopamine Approved 51-61-6, 62-31-7 681
26
Ethanol Approved 64-17-5 702
27 Kava Approved, Investigational, Nutraceutical 9000-38-8
28
Caffeine Approved, Nutraceutical 58-08-2 2519
29
Vitamin C Approved, Nutraceutical Not Applicable 50-81-7 5785 54670067
30 Antibodies
31 Immunoglobulins
32 Antidepressive Agents
33 Antidepressive Agents, Second-Generation
34 Antidepressive Agents, Tricyclic
35 Cytochrome P-450 CYP2D6 Inhibitors
36 Cytochrome P-450 Enzyme Inhibitors
37 Dopamine Agents
38 Dopamine Uptake Inhibitors
39 Neurotransmitter Uptake Inhibitors
40 Psychotropic Drugs
41 Vitamins ,Not Applicable
42 Antioxidants Not Applicable
43 Micronutrients Not Applicable
44 Protective Agents Not Applicable
45 Trace Elements Not Applicable
46 Calamus Nutraceutical Not Applicable

Interventional clinical trials:

(show top 50) (show all 60)
# Name Status NCT ID Phase Drugs
1 Prophylactic Peritoneal Dialysis Decreases Time to Achieve a Negative Fluid Balance After the Norwood Procedure Completed NCT01215240 Phase 3
2 Study of Triostat in Infants During Heart Surgery Completed NCT00027417 Phase 3 Liothyronine sodium/triiodothyronine
3 Cardiac Stem/Progenitor Cell Infusion in Univentricular Physiology (APOLLON Trial) Recruiting NCT02781922 Phase 3
4 Sildenafil After the Fontan Operation Completed NCT00507819 Phase 2 Sildenafil;Placebo
5 Cardiac Progenitor Cell Infusion to Treat Univentricular Heart Disease (PERSEUS) Completed NCT01829750 Phase 2
6 Study of Placebo or Bosentan to Treat Patients With Single Ventricle Physiology. Completed NCT01292551 Phase 2 Bosentan;Placebo
7 Longeveron Mesenchymal Stem Cells (LMSCs) Delivered During Stage II Surgery for Hypoplastic Left Heart Syndrome (ELPIS) Recruiting NCT03525418 Phase 1, Phase 2
8 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle Recruiting NCT03079401 Phase 1, Phase 2
9 Maternal Hyperoxygenation in Congenital Heart Disease Recruiting NCT03136835 Phase 1, Phase 2 Maternal Hyperoxygenation
10 Ambrisentan in Single Ventricle Active, not recruiting NCT02080637 Phase 2 Ambrisentan
11 Erythropoetin Neuroprotection for Neonatal Cardiac Surgery Active, not recruiting NCT00513240 Phase 1, Phase 2 Erythropoetin;Normal saline
12 Autologous Umbilical Cord Blood Treatment of Neonate With CHD Not yet recruiting NCT03558269 Phase 1, Phase 2
13 Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery Withdrawn NCT00770705 Phase 2 Phenoxybenzamine
14 Transcoronary Infusion of Cardiac Progenitor Cells in Patients With Single Ventricle Physiology Completed NCT01273857 Phase 1
15 Understanding Dexmedetomidine in Neonates After Open Heart Surgery Completed NCT00576381 Phase 1 Dexmedetomidine
16 Understanding Dexmedetomidine In Infants Post-Operative From Cardiac Surgery Completed NCT00573066 Phase 1 Dexmedetomidine
17 Sildenafil in Single Ventricle Patients Completed NCT01169519 Phase 1 Sildenafil by injection;Sildenafil by injection;Sildenafil by injection;Sildenafil by injection
18 Allogeneic hMSC Injection in Patients With Hypoplastic Left Heart Syndrome Recruiting NCT02398604 Phase 1 Allo-hMSCs;Placebo
19 Safety Study of Autologous Umbilical Cord Blood Cells for Treatment of Hypoplastic Left Heart Syndrome Recruiting NCT01883076 Phase 1
20 Safety of Autologous Cord Blood Cells in HLHS Patients During Norwood Heart Surgery Recruiting NCT03431480 Phase 1
21 Autologous Cardiac Stem Cell Injection in Patients With Hypoplastic Left Heart Syndrome: An Open Label Pilot Study. Not yet recruiting NCT03406884 Phase 1 c-kit+ cells;Placebo
22 Safety and Feasibility Study of Umbilical Cord Blood Cells for Infants With Hypoplastic Left Heart Syndrome Suspended NCT01445041 Phase 1
23 A Prospective Study of Patients With Hypoplastic Left Heart Syndrome (HLHS) Following Stage II Surgical Palliation Unknown status NCT01708863
24 Near-infrared Spectroscopy (NIRS) Neurodevelopmental Outcomes Unknown status NCT00464100
25 Global and Regional Myocardial Strain and Power Output In Patients With Single Ventricles Using Novel MRI Techniques Unknown status NCT01107990
26 Comparison of Feeding Strategies for Hypoplastic Left Heart Syndrome Infants Completed NCT02657629 Not Applicable
27 Neurodevelopmental Outcomes in Hypoplastic Left Heart Syndrome Completed NCT00399555
28 Evaluation of Panel Reactive Antibody in Children Following Stage I Palliation for Hypoplastic Left Heart Syndrome Completed NCT01135485
29 Single Ventricle Outcome Completed NCT00308217
30 Fluid Balance in Children Undergoing Fontan Surgery Completed NCT02306057
31 Bupropion & Cardio Birth Defect (Slone) Completed NCT01597661 Exposure to any bupropion during the first trimester;Exposure to bupropion alone during the first trimester
32 NIRS in Neonatal Cardiac Surgery Completed NCT00166101
33 Biomarker Study for Heart Failure in Children With Single Ventricle Physiology Completed NCT00571233
34 Impact of Vitamin C on Endothelial Function and Exercise Capacity in Fontan-Palliated Patients Completed NCT00974025 Not Applicable
35 Cerebral Perfusion During Neonatal Cardiac Surgery Completed NCT01032876 Not Applicable
36 Impact of Early Intervention on Maternal Stress in Mothers of Fetuses Diagnosed With Single Ventricle Physiology Completed NCT02462434 Not Applicable
37 Quality of Life Among Children With Congenital Heart Disease Completed NCT01202916
38 Association Between a Mother's Exposure to "Strep Throat" and Her Baby's Developing Heart Disease Completed NCT01603732
39 Prenatal Effects of Congenital Heart Disease (CHD) on Neurodevelopmental Outcome Completed NCT00713635
40 Cerebral Blood Flow in Single Ventricles Throughout Staged Surgical Reconstruction Completed NCT02135081
41 Umbilical Cord Blood Collection and Processing for Cardiac Regeneration in Hypoplastic Left Heart Syndrome Patients Recruiting NCT01856049 Not Applicable
42 Fetal Intervention for Aortic Stenosis and Evolving Hypoplastic Left Heart Syndrome Recruiting NCT01736956 Not Applicable
43 Cerebral Anatomy, Hemodynamics and Metabolism Recruiting NCT02919956
44 National Collaborative to Improve Care of Children With Complex Congenital Heart Disease Recruiting NCT02852031
45 Oxygen Consumption-based Assessments of Hemodynamics in Neonates Following Congenital Heart Surgery (Oxy-CAHN Study) Recruiting NCT02184169 Not Applicable
46 Genetic Determinants of Congenital Heart Disease Outcomes Recruiting NCT01656941
47 Splanchnic and Renal Tissue Oxygenation During Enteral Feedings in Neonates With Patent Ductus Arteriosus Recruiting NCT03551600
48 A Pilot Study- Monitoring Cerebral Blood Flow in Neonates With Congenital Heart Defects Recruiting NCT03512613
49 Family Adaptation Study Following the Diagnosis of Hypoplastic Left Heart Syndrome in a Newborn Active, not recruiting NCT00734643
50 SVRII Family Factors Study Active, not recruiting NCT01582529

Search NIH Clinical Center for Hypoplastic Left Heart Syndrome

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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

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:

41
Heart, Liver, Endothelial, Brain, Lung, Neutrophil, Kidney

Publications for Hypoplastic Left Heart Syndrome

Articles related to Hypoplastic Left Heart Syndrome:

(show top 50) (show all 750)
# Title Authors Year
1
Improved Outcomes in Management of Hypoplastic Left Heart Syndrome Associated with Congenital Diaphragmatic Hernia: an Algorithmic Approach. ( 29448010 )
2018
2
Surgery for hypoplastic left heart syndrome. Taking the long view. ( 29248162 )
2018
3
Long term survival of hypoplastic left heart syndrome infants: Meta-analysis comparing outcomes from the modified Blalock-Taussig shunt and the right ventricle to pulmonary artery shunt. ( 29407078 )
2018
4
The grief and coping of parents whose child has a constant life-threatening disability, hypoplastic left heart syndrome with reference to the dual process model. ( 29338622 )
2018
5
Right Ventricular Systolic Function Parameters in Hypoplastic Left Heart Syndrome. ( 29777281 )
2018
6
Longitudinal Deformation of the Right Ventricle in Hypoplastic Left Heart Syndrome: A Comparative Study of 2D-Feature Tracking Magnetic Resonance Imaging and 2D-Speckle Tracking Echocardiography. ( 29748699 )
2018
7
Cerebral abscess in a young adult with hypoplastic left heart syndrome. ( 29803061 )
2018
8
Mortality in Children With Hypoplastic Left Heart Syndrome Undergoing Tracheostomy. ( 29685241 )
2018
9
Hypoplastic left heart syndrome management. ( 29631801 )
2018
10
Prolonged PR Interval at Birth Predicting the High Occurrence of Fatal Atrioventricular Block in Hypoplastic Left Heart Syndrome. ( 29350247 )
2018
11
The Genetic Landscape of Hypoplastic Left Heart Syndrome. ( 29569026 )
2018
12
Surgical Palliation for Hypoplastic Left Heart Syndrome: For Now, Just Keep Doing What You Do Best. ( 29784679 )
2018
13
Necrotizing Enterocolitis in Infants with Hypoplastic Left Heart Syndrome Following Stage 1 Palliation or Heart Transplant. ( 29392349 )
2018
14
Longitudinal Health Care Cost in Hypoplastic Left Heart Syndrome Palliation. ( 29774394 )
2018
15
Early results of aortic arch reconstruction and bilateral pulmonary arteries banding: modification of the Norwood operation for treatment of hypoplastic left heart syndrome. ( 29350395 )
2018
16
Giessen Procedure as Comprehensive Stage II Palliation With Aortic Arch Reconstruction After Hybrid Bilateral Pulmonary Artery Banding and Ductal Stenting for Hypoplastic Left Heart Syndrome. ( 29425520 )
2018
17
Hypoplastic Left Heart Syndrome With a Hypoplastic Lung in Congenital Diaphragmatic Hernia: What Should Be Done First? ( 29702180 )
2018
18
Gastrostomy tube placement among infants with hypoplastic left heart syndrome undergoing stage 1 palliation. ( 29756326 )
2018
19
Prognostic value of troponin in infants with hypoplastic left heart syndrome between Stage I and II of palliation. ( 29440831 )
2018
20
Interventional treatments and risk factors in patients born with hypoplastic left heart syndrome in England and Wales from 2000 to 2015. ( 29371373 )
2018
21
Hybrid strategies for high-risk non-hypoplastic left heart syndrome patients. ( 29896780 )
2018
22
Three-dimensional echocardiographic evaluation of Ebstein's anomaly of the tricuspid valve in a patient with hypoplastic left heart syndrome. ( 29679990 )
2018
23
Outcomes and risk factors associated with tricuspid valve repair in children with hypoplastic left heart syndrome. ( 29788322 )
2018
24
Stem Cell Therapy for Hypoplastic Left Heart Syndrome: Mechanism, Clinical Application, and Future Directions. ( 29976693 )
2018
25
Early Outcomes of Hypoplastic Left Heart Syndrome Infants: Meta-Analysis of Studies Comparing the Hybrid and Norwood Procedures. ( 29544421 )
2018
26
Congenital diaphragmatic hernia with heart defect has a high risk for hypoplastic left heart syndrome and major extra-cardiac malformations: 10-year national cohort from Finland. ( 29215158 )
2018
27
Successful use of a ventricular assist device in a neonate with hypoplastic left heart syndrome with right ventricular dysfunction. ( 29970231 )
2018
28
Reduced Right Ventricular Fractional Area Change, Strain, and Strain Rate before Bidirectional Cavopulmonary Anastomosis is Associated with Medium-Term Mortality for Children with Hypoplastic Left Heart Syndrome. ( 29655509 )
2018
29
Regional Differences in Cost and Length of Stay in Neonates with Hypoplastic Left Heart Syndrome. ( 29754202 )
2018
30
Novel aortic arch reconstruction using a modified Norwood procedure based on hypoplastic left heart syndrome-specific anatomical malformations. ( 29546398 )
2018
31
The risk of overzealous application of hybrid strategies for patients with biventricular cardiac anomalies: Invited commentary regarding: "Hybrid Strategies for High-Risk Non-Hypoplastic Left Heart Syndrome Patients". ( 29900667 )
2018
32
A potentially curative fetal intervention for hypoplastic left heart syndrome. ( 29317056 )
2018
33
Modified Hybrid Procedure in Hypoplastic Left Heart Syndrome: Initial Experience of a Center in Northeastern Brazil. ( 28832800 )
2017
34
Hypoplastic Left Heart Syndrome Is Not a Predictor of Worse Intermediate Mortality Post Fontan. ( 29096870 )
2017
35
NOTCH1-Dependent Nitric Oxide Signaling Deficiency in Hypoplastic Left Heart Syndrome Revealed Through Patient-Specific Phenotypes Detected in Bioengineered Cardiogenesis. ( 28142228 )
2017
36
Recoarctation After Norwood I Procedure for Hypoplastic Left Heart Syndrome: Impact of Patch Material. ( 28024650 )
2017
37
Effect of acid-base balance on postoperative course in children with hypoplastic left heart syndrome after the modified Norwood procedure. ( 28834879 )
2017
38
Tricuspid Valve Hemangioma Associated with Hypoplastic Left Heart Syndrome Presenting as Sudden Infant Death Syndrome. ( 28272668 )
2017
39
Hypoplastic Left Heart Syndrome Sequencing Reveals a Novel NOTCH1 Mutation in a Family with Single Ventricle Defects. ( 28608148 )
2017
40
Chromosomal Abnormalities Affect the Surgical Outcome in Infants with Hypoplastic Left Heart Syndrome: A Large Cohort Analysis. ( 28921168 )
2017
41
Molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle, hypoplastic left heart syndrome and ductus venosus agenesis on prenatal ultrasound. ( 28254208 )
2017
42
Hypoplastic left heart syndrome and the allure of a valved conduit. ( 29370913 )
2017
43
Right ventricular systolic function in hypoplastic left heart syndrome: A comparison of manual and automated software to measure fractional area change. ( 28191731 )
2017
44
Management of Tricuspid Regurgitation in Patients With Hypoplastic Left Heart Syndrome. ( 28684000 )
2017
45
Relationship Between Cavum Septi Pellucidi Measurements and Fetal Hypoplastic Left Heart Syndrome or Dextro-Transposition of the Great Arteries. ( 29280178 )
2017
46
Hypoplastic Left Heart Syndrome with Congenital Complete Heart Block. ( 28512719 )
2017
47
Acute kidney injury following first-stage palliation in hypoplastic left heart syndrome: hybrid versus Norwood palliation. ( 28889833 )
2017
48
Effectiveness of interstage home monitoring on healthcare outcomes in infants with hypoplastic left heart syndrome: a systematic review protocol. ( 29035962 )
2017
49
Re-evaluation of hypoplastic left heart syndrome from a developmental and morphological perspective. ( 28793912 )
2017
50
Hypoplastic Left Heart Syndrome with Intact or Restrictive Atrial Septum: A Report from the International Fetal Cardiac Intervention Registry. ( 28864444 )
2017

Variations for Hypoplastic Left Heart Syndrome

ClinVar genetic disease variations for Hypoplastic Left Heart Syndrome:

6
(show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XY;inv(10)(q21.2q22.3)pat inversion Likely pathogenic
2 HAND1 NM_004821.2(HAND1): c.531G> C (p.Arg177=) single nucleotide variant Benign rs34198899 GRCh37 Chromosome 5, 153857038: 153857038
3 HAND1 NM_004821.2(HAND1): c.531G> C (p.Arg177=) single nucleotide variant Benign rs34198899 GRCh38 Chromosome 5, 154477478: 154477478
4 HAND1 NM_004821.2(HAND1): c.468T> G (p.Ser156=) single nucleotide variant Benign rs34402828 GRCh37 Chromosome 5, 153857101: 153857101
5 HAND1 NM_004821.2(HAND1): c.468T> G (p.Ser156=) single nucleotide variant Benign rs34402828 GRCh38 Chromosome 5, 154477541: 154477541
6 TBX20 NM_001077653.2(TBX20): c.995delC (p.Pro332Glnfs) deletion Pathogenic GRCh37 Chromosome 7, 35244090: 35244090
7 TBX20 NM_001077653.2(TBX20): c.995delC (p.Pro332Glnfs) deletion Pathogenic GRCh38 Chromosome 7, 35204478: 35204478
8 HAND1 NM_004821.2(HAND1): c.180G> A (p.Gly60=) single nucleotide variant Benign rs369386099 GRCh37 Chromosome 5, 153857389: 153857389
9 HAND1 NM_004821.2(HAND1): c.180G> A (p.Gly60=) single nucleotide variant Benign rs369386099 GRCh38 Chromosome 5, 154477829: 154477829
10 HAND1 NM_004821.2(HAND1): c.257A> T (p.Glu86Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 153857312: 153857312
11 HAND1 NM_004821.2(HAND1): c.257A> T (p.Glu86Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 154477752: 154477752

Copy number variations for Hypoplastic Left Heart Syndrome from CNVD:

7 (show all 21)
# CNVD ID Chromosom 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:

37
# 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 protein-containing complex GO:0032991 9.35 GJA1 NKX2-5 NPPA NPPB SMAD6
2 contractile fiber GO:0043292 9.16 GJA1 TNNI3
3 fascia adherens GO:0005916 8.62 CDH2 GJA1

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

(show all 48)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.94 GJA1 HAND1 MYH6 NOTCH1
2 negative regulation of cell growth GO:0030308 9.87 GJA1 NPPA NPPB
3 BMP signaling pathway GO:0030509 9.85 MYH6 NKX2-5 SMAD6
4 muscle contraction GO:0006936 9.83 GJA1 MYH6 TBX20 TNNI3
5 regulation of cardiac conduction GO:1903779 9.8 NKX2-5 NPPA TNNI3
6 cardiac muscle contraction GO:0060048 9.77 MYH6 NKX2-5 TNNI3
7 regulation of blood pressure GO:0008217 9.73 LEP MYH6 NPPA NPPB
8 neuronal stem cell population maintenance GO:0097150 9.7 CDH2 NOTCH1
9 negative regulation of ossification GO:0030279 9.7 NOTCH1 SMAD6
10 pharyngeal system development GO:0060037 9.69 NKX2-5 NKX2-6
11 glial cell differentiation GO:0010001 9.69 CDH2 NOTCH1
12 negative regulation of myotube differentiation GO:0010832 9.69 NKX2-5 NOTCH1
13 endocardial cushion morphogenesis GO:0003203 9.68 NOTCH1 TBX20
14 ventricular trabecula myocardium morphogenesis GO:0003222 9.68 NKX2-5 NOTCH1
15 cardiac muscle hypertrophy in response to stress GO:0014898 9.68 MYH6 NPPA
16 atrial septum morphogenesis GO:0060413 9.67 NKX2-5 TBX20
17 heart contraction GO:0060047 9.67 NKX2-5 TNNI3
18 outflow tract septum morphogenesis GO:0003148 9.67 NKX2-5 SMAD6 TBX20
19 ventricular cardiac muscle cell development GO:0055015 9.66 NKX2-5 NKX2-6
20 cardiac septum morphogenesis GO:0060411 9.66 HAND1 NOTCH1
21 pulmonary valve morphogenesis GO:0003184 9.65 NOTCH1 SMAD6
22 cardiac ventricle morphogenesis GO:0003208 9.65 NKX2-5 NOTCH1
23 receptor guanylyl cyclase signaling pathway GO:0007168 9.65 NPPA NPPB
24 pericardium morphogenesis GO:0003344 9.64 NOTCH1 TBX20
25 regulation of bone remodeling GO:0046850 9.63 GJA1 LEP
26 regulation of blood vessel size GO:0050880 9.63 FOXC2 NPPA NPPB
27 aortic valve morphogenesis GO:0003180 9.62 NOTCH1 TBX20
28 negative regulation of SMAD protein complex assembly GO:0010991 9.61 SMAD6 TBX20
29 heart development GO:0007507 9.61 FOXC2 FOXL1 GATA5 GJA1 HAND1 NKX2-5
30 glomerular mesangial cell development GO:0072144 9.58 FOXC2 NOTCH1
31 cardiac right ventricle formation GO:0003219 9.58 HAND1 NOTCH1
32 cardiac muscle tissue morphogenesis GO:0055008 9.58 NKX2-5 NOTCH1 TBX20
33 atrioventricular node development GO:0003162 9.56 NKX2-5 NOTCH1
34 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.56 FOXC2 HAND1 MYH6 TNNI3
35 atrial cardiac muscle cell development GO:0055014 9.55 NKX2-5 NKX2-6
36 heart looping GO:0001947 9.55 GJA1 HAND1 NKX2-5 NOTCH1 TBX20
37 adult heart development GO:0007512 9.54 GJA1 MYH6 NKX2-5
38 cardiac muscle cell proliferation GO:0060038 9.5 FOXC2 NKX2-5 NOTCH1
39 cardiac chamber formation GO:0003207 9.48 NOTCH1 TBX20
40 embryonic heart tube development GO:0035050 9.1 FOXC2 GJA1 HAND1 NKX2-5 NKX2-6 TBX20
41 transcription, DNA-templated GO:0006351 10.32 FOXC2 FOXL1 FOXP1 GATA5 HAND1 NKX2-6
42 regulation of transcription, DNA-templated GO:0006355 10.32 FOXC2 FOXL1 FOXP1 GATA5 HAND1 NKX2-5
43 cell differentiation GO:0030154 10.16 FOXC2 FOXL1 FOXP1 HAND1 NKX2-5 NKX2-6
44 multicellular organism development GO:0007275 10.14 CDH2 FOXC2 FOXL1 HAND1 NKX2-5 NKX2-6
45 transcription by RNA polymerase II GO:0006366 10.09 FOXC2 GATA5 HAND1 NKX2-5 TBX20
46 positive regulation of transcription, DNA-templated GO:0045893 10.07 FOXC2 GATA5 HAND1 NKX2-5 NOTCH1 TBX20
47 negative regulation of transcription by RNA polymerase II GO:0000122 10.05 EHMT1 FOXC2 HAND1 LEP NKX2-5 NOTCH1
48 negative regulation of transcription, DNA-templated GO:0045892 10.04 EHMT1 FOXP1 HAND1 NKX2-5 NOTCH1 TBX20

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.81 FOXC2 FOXL1 FOXP1 GATA5 HAND1 NKX2-5
2 transcription regulatory region DNA binding GO:0044212 9.65 FOXC2 GATA5 HAND1 NKX2-5 SMAD6
3 hormone activity GO:0005179 9.63 LEP NPPA NPPB
4 DNA binding transcription factor activity GO:0003700 9.61 FOXC2 FOXL1 FOXP1 GATA5 NKX2-5 NKX2-6
5 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.54 FOXC2 GATA5 NKX2-5
6 transcriptional activator activity, RNA polymerase II transcription factor binding GO:0001190 9.48 NKX2-5 NOTCH1
7 peptide hormone receptor binding GO:0051428 9.43 LEP NPPA
8 hormone receptor binding GO:0051427 9.32 NPPA NPPB
9 sequence-specific DNA binding GO:0043565 9.23 FOXC2 FOXL1 FOXP1 GATA5 HAND1 NKX2-5
10 DNA binding GO:0003677 10.06 FOXC2 FOXL1 FOXP1 GATA5 HAND1 NKX2-5

Sources for Hypoplastic Left Heart Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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