HLHS
MCID: HYP055
MIFTS: 61

Hypoplastic Left Heart Syndrome (HLHS) malady

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

Aliases & Classifications for Hypoplastic Left Heart Syndrome

Aliases & Descriptions for Hypoplastic Left Heart Syndrome:

Name: Hypoplastic Left Heart Syndrome 38 12 50 24 56 42 14 69
Hlhs 50 56
Hypoplastic Left Heart 29

Characteristics:

Orphanet epidemiological data:

56
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 42 D018636
NCIt 47 C98894
SNOMED-CT 64 62067003
Orphanet 56 ORPHA2248
MESH via Orphanet 43 D018636
UMLS via Orphanet 70 C0152101
ICD10 via Orphanet 34 Q23.4
UMLS 69 C0152101

Summaries for Hypoplastic Left Heart Syndrome

NIH Rare Diseases : 50 hypoplastic left heart syndrome (hlhs) is a problem with the heart’s structure that is present at birth (congenital). it occurs when parts of the left side of the heart (mitral valve, left ventricle, aortic valve, and aorta) do not develop completely. the underdeveloped left side of the heart is unable to provide enough blood flow to the body, which decreases the oxygen-rich blood supply. babies with hlhs might look normal at birth, but will develop symptoms of hlhs within a few days. these symptoms might include: poor feeding, problems breathing, pounding heart, weak pulse, and ashen or bluish skin color. the cause of hlhs is presently unknown. last updated: 7/21/2011

MalaCards based summary : Hypoplastic Left Heart Syndrome, also known as hlhs, is related to sudden infant death syndrome and hypoplastic left heart syndrome 2, and has symptoms including patent ductus arteriosus, hypoplastic left heart and maternal diabetes. An important gene associated with Hypoplastic Left Heart Syndrome is GJA1 (Gap Junction Protein Alpha 1), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Bosentan and Milrinone have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and lung, and related phenotypes are cardiovascular system and cellular

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

Wikipedia : 71 Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect in which the left heart is... more...

Related Diseases for Hypoplastic Left Heart Syndrome

Diseases in the Hypoplastic Left Heart Syndrome family:

Hypoplastic Left Heart Syndrome 2 Hypoplastic Left Heart Syndrome 1

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

(show top 50) (show all 86)
id Related Disease Score Top Affiliating Genes
1 sudden infant death syndrome 29.8 CDH2 GJA1 NKX2-5
2 hypoplastic left heart syndrome 2 12.4
3 hypoplastic left heart syndrome 1 12.4
4 hemophagocytic lymphohistiocytosis 11.9
5 left ventricular outflow tract obstruction 11.4
6 griscelli syndrome, type 2 11.2
7 aortic valve disease 1 11.1
8 aortic valve disease 2 10.9
9 ventricular septal defect 3 10.9
10 hypoplastic right heart syndrome 10.9
11 lymphoproliferative syndrome, x-linked, 1 10.7
12 hemophagocytic lymphohistiocytosis, familial, 1 10.7
13 pyloric stenosis, infantile hypertrophic, 5 10.2 FOXC2 FOXL1
14 metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria 10.2 FOXC2 FOXL1
15 immunodeficiency 41 with lymphoproliferation and autoimmunity 10.2 EHMT1 NOTCH1
16 congenital generalized lipodystrophy 10.2 FOXC2 FOXL1
17 cerebritis 10.2
18 usher syndrome, type ik 10.1 EHMT1 NOTCH1
19 aneurysm 10.1
20 macroglossia 10.1 NKX2-5 NPPB
21 right aortic arch 10.1
22 emery-dreifuss muscular dystrophy 7, ad 10.1 CDH2 NKX2-5
23 deafness, autosomal recessive 79 10.1 NOTCH1 NPPB TNNI3
24 hereditary late-onset parkinson disease 10.1 NOTCH1 SMAD6
25 inferolateral myocardial infarct 10.0 NPPA NPPB
26 heart disease 10.0
27 cor triatriatum 10.0
28 transposition of the great arteries 10.0
29 interatrial communication 10.0
30 mental retardation, truncal obesity, retinal dystrophy, and micropenis 10.0 EHMT1 NOTCH1
31 malignant pineal area germ cell neoplasm 10.0 GATA5 NKX2-5 NPPB
32 histidine metabolism disease 9.9 LEP NPPA NPPB
33 adult t-cell leukemia 9.9 NPPA NPPB TNNI3
34 fetal alcohol syndrome 9.9 GATA5 NKX2-5 NPPA
35 microcephaly 9.9
36 pagod syndrome 9.9
37 turner syndrome 9.9
38 endocardial fibroelastosis 9.9
39 pentalogy of cantrell 9.9
40 omphalocele 9.9
41 pulmonary valve stenosis 9.9
42 holt-oram syndrome 9.9
43 cdkl5-related angelman-like syndrome 9.8 CDH2 GJA1 NPPB TNNI3
44 ceroid lipofuscinosis, neuronal, kufs type, adult onset 9.8 NPPA NPPB SMAD6
45 moebius syndrome 9.7
46 protein-losing enteropathy 9.7
47 muscular atrophy 9.7
48 plastic bronchitis 9.7
49 dextrocardia 9.7
50 birth defects 9.7

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:

56 32 (show all 9)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 patent ductus arteriosus 56 32 Occasional (29-5%) HP:0001643
2 hypoplastic left heart 56 32 Very frequent (99-80%) HP:0004383
3 maternal diabetes 56 32 Occasional (29-5%) HP:0009800
4 mitral stenosis 56 32 Occasional (29-5%) HP:0001718
5 hypoplastic aortic arch 56 32 Frequent (79-30%) HP:0012304
6 abnormality of chromosome segregation 56 32 Occasional (29-5%) HP:0002916
7 mitral atresia 56 32 Occasional (29-5%) HP:0011560
8 atria septal defect 56 Occasional (29-5%)
9 atrial septal defect 32 HP:0001631

MGI Mouse Phenotypes related to Hypoplastic Left Heart Syndrome:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.3 TNNI3 CDH2 EHMT1 FOXC2 GATA5 GJA1
2 cellular MP:0005384 10.21 LEP NKX2-5 NOTCH1 XDH CDH2 EHMT1
3 mortality/aging MP:0010768 10.13 CDH2 EHMT1 FOXC2 FOXL1 GATA5 GJA1
4 homeostasis/metabolism MP:0005376 10.11 CDH2 FOXC2 GATA5 GJA1 HAND1 LEP
5 growth/size/body region MP:0005378 10.1 GJA1 HAND1 LEP NKX2-5 NOTCH1 XDH
6 embryo MP:0005380 10.06 CDH2 EHMT1 FOXC2 GJA1 HAND1 LEP
7 muscle MP:0005369 10.03 CDH2 FOXC2 GATA5 GJA1 HAND1 LEP
8 digestive/alimentary MP:0005381 10.02 FOXC2 FOXL1 GATA5 HAND1 LEP NKX2-5
9 endocrine/exocrine gland MP:0005379 9.98 FOXL1 GATA5 GJA1 LEP NKX2-5 NOTCH1
10 craniofacial MP:0005382 9.97 EHMT1 FOXC2 GJA1 HAND1 NKX2-5 NOTCH1
11 renal/urinary system MP:0005367 9.63 FOXC2 GATA5 LEP NOTCH1 NPPA XDH
12 respiratory system MP:0005388 9.5 FOXC2 GJA1 HAND1 LEP NKX2-5 NOTCH1
13 skeleton MP:0005390 9.17 EHMT1 FOXC2 GATA5 GJA1 HAND1 LEP

Drugs & Therapeutics for Hypoplastic Left Heart Syndrome

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

(show all 49)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bosentan Approved, Investigational Phase 2 147536-97-8 104865
2
Milrinone Approved Phase 2 78415-72-2 4197
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 Protective Agents Phase 2
10 Adrenergic Agents Phase 2,Phase 1
11 Anesthetics Phase 2
12 Neurotransmitter Agents Phase 2,Phase 1
13 Epoetin alfa Phase 1, Phase 2 113427-24-0
14 Hematinics Phase 1, Phase 2
15 Phosphodiesterase 3 Inhibitors Phase 2
16 Platelet Aggregation Inhibitors Phase 2
17 Citrate Nutraceutical Phase 2,Phase 1
18
Citric Acid Nutraceutical, Vet_approved Phase 2,Phase 1 77-92-9 311
19
Dexmedetomidine Approved, Vet_approved Phase 1 76631-46-4, 113775-47-6 68602 5311068 56032
20 Adrenergic Agonists Phase 1
21 Adrenergic alpha-2 Receptor Agonists Phase 1
22 Adrenergic alpha-Agonists Phase 1
23 Analgesics Phase 1
24 Analgesics, Non-Narcotic Phase 1
25 Central Nervous System Depressants Phase 1
26 Hypnotics and Sedatives Phase 1
27 Peripheral Nervous System Agents Phase 1
28
Bupropion Approved 34841-39-9, 34911-55-2 444
29
Dopamine Approved 51-61-6, 62-31-7 681
30
Ethanol Approved 64-17-5 702
31
Caffeine Approved, Nutraceutical 58-08-2 2519
32
Vitamin C Approved, Nutraceutical 50-81-7 5785 54670067
33 Antidepressive Agents
34 Antidepressive Agents, Second-Generation
35 Antidepressive Agents, Tricyclic
36 Cytochrome P-450 CYP2D6 Inhibitors
37 Cytochrome P-450 Enzyme Inhibitors
38 Dopamine Agents
39 Dopamine Uptake Inhibitors
40 Neurotransmitter Uptake Inhibitors
41 Psychotropic Drugs
42 Vitamins
43 Antioxidants
44 Micronutrients
45 Trace Elements
46 Antibodies
47 Immunoglobulins
48 Calamus Nutraceutical
49 Kava Nutraceutical 9000-38-8

Interventional clinical trials:

(show top 50) (show all 55)
id Name Status NCT ID Phase
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
3 Positive Pressure Ventilation and Sternal Closure in HLHS Recruiting NCT02455713 Phase 2, Phase 3
4 Cardiac Stem/Progenitor Cell Infusion in Univentricular Physiology (APOLLON Trial) Recruiting NCT02781922 Phase 3
5 Sildenafil After the Fontan Operation Completed NCT00507819 Phase 2
6 Cardiac Progenitor Cell Infusion to Treat Univentricular Heart Disease (PERSEUS) Completed NCT01829750 Phase 2
7 Study of Placebo or Bosentan to Treat Patients With Single Ventricle Physiology. Completed NCT01292551 Phase 2
8 Fetal Intervention for Aortic Stenosis and Evolving Hypoplastic Left Heart Syndrome Recruiting NCT01736956 Phase 1, Phase 2
9 Ambrisentan in Single Ventricle Recruiting NCT02080637 Phase 2
10 Erythropoetin Neuroprotection for Neonatal Cardiac Surgery Active, not recruiting NCT00513240 Phase 1, Phase 2
11 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle Not yet recruiting NCT03079401 Phase 1, Phase 2
12 Maternal Hyperoxygenation in Congenital Heart Disease Not yet recruiting NCT03136835 Phase 1, Phase 2
13 Milrinone in Congenital Diaphragmatic Hernia Not yet recruiting NCT02951130 Phase 2
14 Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery Withdrawn NCT00770705 Phase 2
15 Transcoronary Infusion of Cardiac Progenitor Cells in Patients With Single Ventricle Physiology Completed NCT01273857 Phase 1
16 Understanding Dexmedetomidine in Neonates After Open Heart Surgery Completed NCT00576381 Phase 1
17 Understanding Dexmedetomidine In Infants Post-Operative From Cardiac Surgery Completed NCT00573066 Phase 1
18 Sildenafil in Single Ventricle Patients Completed NCT01169519 Phase 1
19 Safety Study of Autologous Umbilical Cord Blood Cells for Treatment of Hypoplastic Left Heart Syndrome Recruiting NCT01883076 Phase 1
20 Allogeneic hMSC Injection in Patients With Hypoplastic Left Heart Syndrome Recruiting NCT02398604 Phase 1
21 Safety and Feasibility Study of Umbilical Cord Blood Cells for Infants With Hypoplastic Left Heart Syndrome Suspended NCT01445041 Phase 1
22 Global and Regional Myocardial Strain and Power Output In Patients With Single Ventricles Using Novel MRI Techniques Unknown status NCT01107990
23 Comparison of Feeding Strategies for Hypoplastic Left Heart Syndrome Infants Completed NCT02657629
24 Neurodevelopmental Outcomes in Hypoplastic Left Heart Syndrome Completed NCT00399555
25 Single Ventricle Outcome Completed NCT00308217
26 Fluid Balance in Children Undergoing Fontan Surgery Completed NCT02306057
27 Bupropion & Cardio Birth Defect (Slone) Completed NCT01597661
28 Biomarker Study for Heart Failure in Children With Single Ventricle Physiology Completed NCT00571233
29 NIRS in Neonatal Cardiac Surgery Completed NCT00166101
30 Impact of Vitamin C on Endothelial Function and Exercise Capacity in Fontan-Palliated Patients Completed NCT00974025
31 Cerebral Perfusion During Neonatal Cardiac Surgery Completed NCT01032876
32 Impact of Early Intervention on Maternal Stress in Mothers of Fetuses Diagnosed With Single Ventricle Physiology Completed NCT02462434
33 Quality of Life Among Children With Congenital Heart Disease Completed NCT01202916
34 Association Between a Mother's Exposure to "Strep Throat" and Her Baby's Developing Heart Disease Completed NCT01603732
35 Prenatal Effects of Congenital Heart Disease (CHD) on Neurodevelopmental Outcome Completed NCT00713635
36 A Prospective Study of Patients With Hypoplastic Left Heart Syndrome (HLHS) Following Stage II Surgical Palliation Recruiting NCT01708863
37 Umbilical Cord Blood Collection and Processing for Cardiac Regeneration in Hypoplastic Left Heart Syndrome Patients Recruiting NCT01856049
38 SVRII Family Factors Study Recruiting NCT01582529
39 Cerebral Anatomy, Hemodynamics and Metabolism Recruiting NCT02919956
40 Oxygen Consumption-based Assessments of Hemodynamics in Neonates Following Congenital Heart Surgery (Oxy-CAHN Study) Recruiting NCT02184169
41 Genetic Determinants of Congenital Heart Disease Outcomes Recruiting NCT01656941
42 Family Adaptation Study Following the Diagnosis of Hypoplastic Left Heart Syndrome in a Newborn Active, not recruiting NCT00734643
43 Near-infrared Spectroscopy (NIRS) Neurodevelopmental Outcomes Active, not recruiting NCT00464100
44 Evaluation of Panel Reactive Antibody in Children Following Stage I Palliation for Hypoplastic Left Heart Syndrome Active, not recruiting NCT01135485
45 Diffuse Myocardial Fibrosis in Fontan Patients Active, not recruiting NCT01929174
46 Cerebral Blood Flow in Single Ventricles Throughout Staged Surgical Reconstruction Active, not recruiting NCT02135081
47 Long-term Outcomes of Children With Hypoplastic Left Heart Syndrome and the Impact of Norwood Shunt Type Enrolling by invitation NCT02455531
48 National Collaborative to Improve Care of Children With Complex Congenital Heart Disease Enrolling by invitation NCT02852031
49 Cardiovascular Response to Maternal Hyperoxygenation in Fetal Congenital Heart Disease Enrolling by invitation NCT03147014
50 SVR III: Brain Connectome and Neurodevelopmental Outcomes Enrolling by invitation NCT02692443

Search NIH Clinical Center for Hypoplastic Left Heart Syndrome

Inferred drug relations via UMLS 69 / NDF-RT 48 :


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:

id Genetic test Affiliating Genes
1 Hypoplastic Left Heart Syndrome 29 24 GJA1

Anatomical Context for Hypoplastic Left Heart Syndrome

MalaCards organs/tissues related to Hypoplastic Left Heart Syndrome:

39
Heart, Skin, Lung, Liver, Testes, Neutrophil, Uterus

Publications for Hypoplastic Left Heart Syndrome

Articles related to Hypoplastic Left Heart Syndrome:

(show top 50) (show all 651)
id Title Authors Year
1
Ventricular function and ventriculo-arterial coupling after palliation of hypoplastic left heart syndrome: A comparative study with Fontan patients with LV morphology. ( 27816303 )
2017
2
Right ventricular systolic function in hypoplastic left heart syndrome: A comparison of manual and automated software to measure fractional area change. ( 28191731 )
2017
3
Counseling Practices for Fetal Hypoplastic Left Heart Syndrome. ( 28345115 )
2017
4
Hypoplastic Left Heart Syndrome is not Associated with Worse Clinical or Neurodevelopmental Outcomes Than Other Cardiac Pathologies After the Norwood-Sano Operation. ( 28341901 )
2017
5
Hypoplastic left heart syndrome: from comfort care to long-term survival. ( 27701379 )
2017
6
Interstage Home Monitoring After Newborn First-Stage Palliation for Hypoplastic Left Heart Syndrome: Family Education Strategies. ( 28365652 )
2017
7
Recoarctation After Norwood I Procedure for Hypoplastic Left Heart Syndrome: Impact of Patch Material. ( 28024650 )
2017
8
Evolution of Left Ventricular Size in Late Survivors of Surgery for Hypoplastic Left Heart Syndrome. ( 28410632 )
2017
9
Practice trends over time in the care of infants with hypoplastic left heart syndrome: A report from the National Pediatric Cardiology Quality Improvement Collaborative. ( 28121380 )
2017
10
Hypoplastic Left Heart Syndrome with Congenital Complete Heart Block. ( 28512719 )
2017
11
Hybrid Stage I Procedure as Initial Palliation for Neonate With Hypoplastic Left Heart Syndrome and Right Congenital Diaphragmatic Hernia. ( 28100120 )
2017
12
Mathematical Analysis and Physical Profile of Blalock-Taussig Shunt and Sano Modification Procedure in Hypoplastic Left Heart Syndrome: Review of the Literature and Implications for the Anesthesiologist. ( 28118786 )
2017
13
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
14
The complex genetics of hypoplastic left heart syndrome. ( 28530678 )
2017
15
Hypoplastic left heart syndrome: a novel surgical strategy for small-volume centres? ( 28329111 )
2017
16
Neurodevelopmental Outcome in Children after Fetal Cardiac Intervention for Aortic Stenosis with Evolving Hypoplastic Left Heart Syndrome. ( 28233547 )
2017
17
Pressure-volume loop-derived cardiac indices during dobutamine stress: a step towards understanding limitations in cardiac output in children with hypoplastic left heart syndrome. ( 28043677 )
2017
18
NOTCH1-Dependent Nitric Oxide Signaling Deficiency in Hypoplastic Left Heart Syndrome Revealed Through Patient-Specific Phenotypes Detected in Bioengineered Cardiogenesis. ( 28142228 )
2017
19
Tricuspid Valve Hemangioma Associated with Hypoplastic Left Heart Syndrome Presenting as Sudden Infant Death Syndrome. ( 28272668 )
2017
20
Model of Human Fetal Growth in Hypoplastic Left Heart Syndrome: Reduced Ventricular Growth Due to Decreased Ventricular Filling and Altered Shape. ( 28275592 )
2017
21
Cognitive Development of School-Age Hypoplastic Left Heart Syndrome Survivors: A Single Center Study. ( 28508919 )
2017
22
Geometry and growth of the reconstructed aorta in patients with hypoplastic left heart syndrome and variants. ( 28291606 )
2017
23
Postoperative Cerebral and Somatic Near-Infrared Spectroscopy Saturations and Outcome in Hypoplastic Left Heart Syndrome. ( 28012642 )
2016
24
Successful Repair of Hypoplastic Left Heart Syndrome With Intact Atrial Septum, Congenital Diaphragm Hernia, and Anomalous Origin of Coronary Artery: Defying the Odds. ( 27343534 )
2016
25
A Rare Case of Embolic ST-Elevation Myocardial Infarction in an Adult Patient With Repaired Hypoplastic Left Heart Syndrome. ( 27297083 )
2016
26
Initial experience with live three-dimensional image overlay for ductal stenting in hypoplastic left heart syndrome. ( 27998845 )
2016
27
Finding the correct role for heart transplant in the treatment of hypoplastic left heart syndrome. ( 26970470 )
2016
28
CASE 8-2016 Percutaneous Fetal Cardiac Intervention for Severe Aortic Stenosis and Evolving Hypoplastic Left-Heart Syndrome. ( 27521972 )
2016
29
Aortic arch reconstruction using a Kommerell diverticulum for hypoplastic left heart syndrome with a right aortic arch. ( 27038759 )
2016
30
The neurodevelopmental implications of hypoplastic left heart syndrome in the fetus. ( 27821206 )
2016
31
Neurodevelopmental outcome in hypoplastic left heart syndrome: Impact of perioperative cerebral tissue oxygenation of the Norwood procedure. ( 27085616 )
2016
32
Changes in right ventricular function in neonates with hypoplastic left heart syndrome before and after the hybrid procedure. ( 26800767 )
2016
33
Regenerative Medicine Strategies for Hypoplastic Left Heart Syndrome. ( 27245633 )
2016
34
Hypoplastic left heart syndrome: What's next? ( 26806478 )
2016
35
Decompressing vein and bilateral superior venae cavae in a patient with hypoplastic left heart syndrome. ( 27641733 )
2016
36
Norwood Procedure for Palliation of Hypoplastic Left Heart Syndrome: Right Ventricle to Pulmonary Artery Conduit vs Modified Blalock-Taussig Shunt. ( 27908945 )
2016
37
Effects of milk flow on the physiological and behavioural responses to feeding in an infant with hypoplastic left heart syndrome. ( 26982280 )
2016
38
Application of the hybrid Stage 1 palliation concept to patients without hypoplastic left heart syndrome as a bridge to heart transplant. ( 27425401 )
2016
39
Hybrid therapy for hypoplastic left heart syndrome: Myth, alternative, or standard? ( 26704055 )
2016
40
EP07.03: Fetal intelligent navigation echocardiography (FINE) in a fetus affected by hypoplastic left heart syndrome and restrictive foramen ovale. ( 27646702 )
2016
41
Tricuspid annular plane systolic excursion correlates with exercise capacity in a cohort of patients with hypoplastic left heart syndrome after Fontan operation. ( 27596010 )
2016
42
Variability of antithrombotics use in patients with hypoplastic left heart syndrome and its variants following first- and second-stage palliation surgery: a national report using the National Pediatric Cardiology Quality Improvement Collaborative registry. ( 27981915 )
2016
43
Understanding the Hybrid Stage I Approach for Hypoplastic Left Heart Syndrome. ( 27694357 )
2016
44
Neurodevelopmental Outcome of Children with Hypoplastic Left Heart Syndrome at One and Four Years of Age Comparing Hybrid and Norwood Procedure. ( 27535107 )
2016
45
Evaluation of right ventricular function in fetal hypoplastic left heart syndrome using spatio-temporal image correlation (STIC). ( 27066831 )
2016
46
Tracheostomy Among Infants With Hypoplastic Left Heart Syndrome Undergoing Cardiac Operations: A Multicenter Analysis. ( 27865477 )
2016
47
Hybrid Stage 1 Palliation in a Patient With Hypoplastic Left Heart Syndrome and Unusual Decompressing Levoatrial Cardinal Vein in Turner Syndrome: Utility of Multimodality Imaging. ( 27142408 )
2016
48
Genetics of Hypoplastic Left Heart Syndrome. ( 26996724 )
2016
49
Does prenatal diagnosis of hypoplastic left heart syndrome make a difference? - A systematic review. ( 27416335 )
2016
50
Preoperative Stabilization of Infants With Hypoplastic Left Heart Syndrome Before Stage I Palliation. ( 26830180 )
2016

Variations for Hypoplastic Left Heart Syndrome

ClinVar genetic disease variations for Hypoplastic Left Heart Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GJA1 NM_000165.4(GJA1): c.1127G> A (p.Arg376Gln) single nucleotide variant Pathogenic rs104893965 GRCh37 Chromosome 6, 121769120: 121769120

Copy number variations for Hypoplastic Left Heart Syndrome from CNVD:

7 (show all 21)
id 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

GO Terms for Hypoplastic Left Heart Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 fascia adherens GO:0005916 8.62 CDH2 GJA1

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

(show all 32)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.97 FOXC2 GATA5 HAND1 NKX2-5 NOTCH1
2 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.93 EHMT1 FOXC2 HAND1 LEP NKX2-5 NOTCH1
3 negative regulation of canonical Wnt signaling pathway GO:0090090 9.82 CDH2 NKX2-5 NOTCH1
4 negative regulation of cell growth GO:0030308 9.79 GJA1 NPPA NPPB
5 regulation of blood pressure GO:0008217 9.69 LEP NPPA NPPB
6 heart looping GO:0001947 9.67 HAND1 NKX2-5 NOTCH1
7 ventricular septum morphogenesis GO:0060412 9.65 NKX2-5 NOTCH1
8 negative regulation of endothelial cell proliferation GO:0001937 9.65 GJA1 XDH
9 regulation of cardiac conduction GO:1903779 9.65 NKX2-5 NPPA TNNI3
10 cGMP biosynthetic process GO:0006182 9.64 NPPA NPPB
11 outflow tract septum morphogenesis GO:0003148 9.64 NKX2-5 SMAD6
12 neuronal stem cell population maintenance GO:0097150 9.63 CDH2 NOTCH1
13 negative regulation of ossification GO:0030279 9.63 NOTCH1 SMAD6
14 positive regulation of JAK-STAT cascade GO:0046427 9.62 LEP NOTCH1
15 positive regulation of p38MAPK cascade GO:1900745 9.62 LEP XDH
16 glial cell differentiation GO:0010001 9.61 CDH2 NOTCH1
17 ventricular trabecula myocardium morphogenesis GO:0003222 9.6 NKX2-5 NOTCH1
18 negative regulation of myotube differentiation GO:0010832 9.59 NKX2-5 NOTCH1
19 heart contraction GO:0060047 9.58 NKX2-5 TNNI3
20 cardiac muscle tissue morphogenesis GO:0055008 9.58 NKX2-5 NOTCH1
21 cardiac ventricle morphogenesis GO:0003208 9.56 NKX2-5 NOTCH1
22 receptor guanylyl cyclase signaling pathway GO:0007168 9.55 NPPA NPPB
23 cardiac septum morphogenesis GO:0060411 9.54 HAND1 NOTCH1
24 pulmonary valve morphogenesis GO:0003184 9.52 NOTCH1 SMAD6
25 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.5 FOXC2 HAND1 TNNI3
26 glomerular mesangial cell development GO:0072144 9.43 FOXC2 NOTCH1
27 embryonic heart tube development GO:0035050 9.43 FOXC2 HAND1 NKX2-5
28 cardiac right ventricle formation GO:0003219 9.4 HAND1 NOTCH1
29 atrioventricular node development GO:0003162 9.37 NKX2-5 NOTCH1
30 regulation of blood vessel size GO:0050880 9.33 FOXC2 NPPA NPPB
31 heart development GO:0007507 9.17 FOXC2 FOXL1 GJA1 HAND1 NKX2-5 NOTCH1
32 cardiac muscle cell proliferation GO:0060038 9.13 FOXC2 NKX2-5 NOTCH1

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.8 FOXC2 FOXL1 GATA5 NKX2-5 NOTCH1 SMAD6
2 chromatin binding GO:0003682 9.73 GATA5 NKX2-5 NOTCH1 SMAD6
3 hormone activity GO:0005179 9.54 LEP NPPA NPPB
4 sequence-specific DNA binding GO:0043565 9.43 FOXC2 FOXL1 GATA5 HAND1 NKX2-5 NOTCH1
5 transcriptional activator activity, RNA polymerase II transcription factor binding GO:0001190 9.4 NKX2-5 NOTCH1
6 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.33 FOXC2 GATA5 NKX2-5
7 peptide hormone receptor binding GO:0051428 9.26 LEP NPPA
8 transcription regulatory region DNA binding GO:0044212 9.02 FOXC2 GATA5 HAND1 NKX2-5 SMAD6

Sources for Hypoplastic Left Heart Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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