MCID: HYP055
MIFTS: 63

Hypoplastic Left Heart Syndrome

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

Aliases & Classifications for Hypoplastic Left Heart Syndrome

MalaCards integrated aliases for Hypoplastic Left Heart Syndrome:

Name: Hypoplastic Left Heart Syndrome 37 12 72 49 55 36 41 14 69
Hlhs 49 55
Hypoplastic Left Heart 28

Characteristics:

Orphanet epidemiological data:

55
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 32 Q23.4
ICD9CM 34 746.7
MeSH 41 D018636
NCIt 46 C98894
SNOMED-CT 64 62067003
Orphanet 55 ORPHA2248
MESH via Orphanet 42 D018636
UMLS via Orphanet 70 C0152101
ICD10 via Orphanet 33 Q23.4
KEGG 36 H01272
UMLS 69 C0152101

Summaries for Hypoplastic Left Heart Syndrome

NIH Rare Diseases : 49 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. Last updated: 9/7/2017

MalaCards based summary : Hypoplastic Left Heart Syndrome, also known as hlhs, is related to aortic valve disease 1 and aortic valve disease 2, and has symptoms including patent ductus arteriosus, mitral stenosis and maternal diabetes. An important gene associated with Hypoplastic Left Heart Syndrome is NKX2-5 (NK2 Homeobox 5), 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, lung and skin, 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 : 72 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 112)
# Related Disease Score Top Affiliating Genes
1 aortic valve disease 1 31.7 NOTCH1 NPPB TNNI3
2 aortic valve disease 2 31.1 NOTCH1 NPPA NPPB SMAD6 TNNI3
3 kleefstra syndrome 30.2 EHMT1 NOTCH1
4 ebstein anomaly 29.9 NKX2-5 NPPB
5 coronary artery anomaly 29.2 NPPA NPPB TNNI3
6 arteries, anomalies of 29.0 LEP NPPB TNNI3
7 heart disease 28.1 GATA5 GJA1 HAND1 MYH6 NKX2-5 NOTCH1
8 hypoplastic left heart syndrome 1 12.7
9 hypoplastic left heart syndrome 2 12.5
10 hemophagocytic lymphohistiocytosis 12.0
11 griscelli syndrome, type 2 11.3
12 ritscher-schinzel syndrome 1 11.0
13 cardiomyopathy, infantile histiocytoid 11.0
14 ventricular septal defect 3 11.0
15 hypoplastic right heart syndrome 11.0
16 lymphedema-distichiasis syndrome 10.4 FOXC2 FOXL1
17 distichiasis 10.4 FOXC2 FOXL1
18 hereditary lymphedema 10.3 FOXC2 FOXL1
19 deafness, autosomal recessive 79 10.3 EHMT1 NOTCH1
20 deafness, autosomal recessive 33 10.3 EHMT1 NOTCH1
21 cerebritis 10.3
22 sinoatrial node disease 10.2 GJA1 MYH6
23 aging 10.2
24 cardiomyopathy, dilated, 1e 10.2 CDH2 GJA1 NKX2-5
25 aneurysm 10.2
26 arrhythmogenic right ventricular dysplasia, familial, 5 10.2 CDH2 NKX2-5
27 transposition of the great arteries 10.1
28 right aortic arch 10.1
29 familial bicuspid aortic valve 10.1 GATA5 NKX2-5 NOTCH1 SMAD6
30 atrial standstill 1 10.1
31 blood group, i system 10.1
32 endocardial fibroelastosis 10.1
33 enterocolitis 10.1
34 autoinflammation with infantile enterocolitis 10.1
35 atrial heart septal defect 10.1
36 cor triatriatum 10.1
37 interatrial communication 10.1
38 familial atrial fibrillation 10.1 GATA5 NKX2-5 NPPA
39 toxic myocarditis 10.1 NPPB TNNI3
40 ventricular septal defect 10.0 GATA5 NKX2-5 NPPB
41 diaphragmatic hernia, congenital 10.0
42 kabuki syndrome 1 10.0
43 perinatal necrotizing enterocolitis 10.0
44 anterolateral myocardial infarction 10.0 NPPA NPPB
45 tricuspid valve disease 10.0 NKX2-5 NPPB
46 holt-oram syndrome 10.0
47 pagod syndrome 10.0
48 microcephaly, epilepsy, and diabetes syndrome 10.0
49 omphalocele 10.0
50 microcephaly 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:

55 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 patent ductus arteriosus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001643
2 mitral stenosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001718
3 maternal diabetes 55 31 occasional (7.5%) Occasional (29-5%) HP:0009800
4 hypoplastic aortic arch 55 31 frequent (33%) Frequent (79-30%) HP:0012304
5 atrial septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001631
6 abnormality of chromosome segregation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002916
7 hypoplastic left heart 55 31 hallmark (90%) Very frequent (99-80%) HP:0004383
8 mitral atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0011560

MGI Mouse Phenotypes related to Hypoplastic Left Heart Syndrome:

43 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.32 HAND1 LEP MYH6 NKX2-5 NOTCH1 NPPA
2 cellular MP:0005384 10.19 CDH2 EHMT1 FOXL1 GATA5 GJA1 HAND1
3 homeostasis/metabolism MP:0005376 10.18 LEP MYH6 NKX2-5 NOTCH1 NPPA SMAD6
4 growth/size/body region MP:0005378 10.1 CDH2 EHMT1 FOXC2 FOXL1 GJA1 HAND1
5 mortality/aging MP:0010768 10.1 CDH2 EHMT1 FOXC2 FOXL1 GATA5 GJA1
6 embryo MP:0005380 10.03 CDH2 EHMT1 FOXC2 GJA1 HAND1 LEP
7 digestive/alimentary MP:0005381 10 NKX2-5 NOTCH1 FOXC2 FOXL1 GATA5 HAND1
8 immune system MP:0005387 9.97 FOXC2 GATA5 GJA1 LEP MYH6 NKX2-5
9 muscle MP:0005369 9.97 CDH2 FOXC2 GATA5 GJA1 HAND1 LEP
10 craniofacial MP:0005382 9.95 EHMT1 FOXC2 GJA1 HAND1 NKX2-5 NOTCH1
11 renal/urinary system MP:0005367 9.43 GATA5 LEP NOTCH1 NPPA XDH FOXC2
12 respiratory system MP:0005388 9.23 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 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 76631-46-4, 113775-47-6 5311068 56032 68602
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 34911-55-2, 34841-39-9 444
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 50-81-7 54670067 5785
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
42 Antioxidants
43 Micronutrients
44 Protective Agents
45 Trace Elements
46 Calamus Nutraceutical

Interventional clinical trials:

(show top 50) (show all 56)

# 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 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 Sildenafil;Placebo
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 Bosentan;Placebo
8 Fetal Intervention for Aortic Stenosis and Evolving Hypoplastic Left Heart Syndrome Recruiting NCT01736956 Phase 1, Phase 2
9 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle Recruiting NCT03079401 Phase 1, Phase 2
10 Ambrisentan in Single Ventricle Recruiting NCT02080637 Phase 2 Ambrisentan
11 Erythropoetin Neuroprotection for Neonatal Cardiac Surgery Active, not recruiting NCT00513240 Phase 1, Phase 2 Erythropoetin;Normal saline
12 Maternal Hyperoxygenation in Congenital Heart Disease Not yet recruiting NCT03136835 Phase 1, Phase 2 Maternal Hyperoxygenation
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
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
35 Cerebral Perfusion During Neonatal Cardiac Surgery Completed NCT01032876
36 Impact of Early Intervention on Maternal Stress in Mothers of Fetuses Diagnosed With Single Ventricle Physiology Completed NCT02462434
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 Umbilical Cord Blood Collection and Processing for Cardiac Regeneration in Hypoplastic Left Heart Syndrome Patients Recruiting NCT01856049
41 Cerebral Anatomy, Hemodynamics and Metabolism Recruiting NCT02919956
42 National Collaborative to Improve Care of Children With Complex Congenital Heart Disease Recruiting NCT02852031
43 Oxygen Consumption-based Assessments of Hemodynamics in Neonates Following Congenital Heart Surgery (Oxy-CAHN Study) Recruiting NCT02184169
44 Genetic Determinants of Congenital Heart Disease Outcomes Recruiting NCT01656941
45 Family Adaptation Study Following the Diagnosis of Hypoplastic Left Heart Syndrome in a Newborn Active, not recruiting NCT00734643
46 SVRII Family Factors Study Active, not recruiting NCT01582529
47 Diffuse Myocardial Fibrosis in Fontan Patients Active, not recruiting NCT01929174
48 Cerebral Blood Flow in Single Ventricles Throughout Staged Surgical Reconstruction Active, not recruiting NCT02135081
49 Long-term Outcomes of Children With Hypoplastic Left Heart Syndrome and the Impact of Norwood Shunt Type Enrolling by invitation NCT02455531
50 Cardiovascular Response to Maternal Hyperoxygenation in Fetal Congenital Heart Disease Enrolling by invitation NCT03147014

Search NIH Clinical Center for Hypoplastic Left Heart Syndrome

Inferred drug relations via UMLS 69 / NDF-RT 47 :


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 28

Anatomical Context for Hypoplastic Left Heart Syndrome

MalaCards organs/tissues related to Hypoplastic Left Heart Syndrome:

38
Heart, Lung, Skin, Brain, Endothelial, Liver, Kidney

Publications for Hypoplastic Left Heart Syndrome

Articles related to Hypoplastic Left Heart Syndrome:

(show top 50) (show all 694)
# Title Authors Year
1
Necrotizing Enterocolitis in Infants with Hypoplastic Left Heart Syndrome Following Stage 1 Palliation or Heart Transplant. ( 29392349 )
2018
2
Prognostic value of troponin in infants with hypoplastic left heart syndrome between Stage I and II of palliation. ( 29440831 )
2018
3
Surgery for hypoplastic left heart syndrome. Taking the long view. ( 29248162 )
2018
4
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
5
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
6
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
7
Improved Outcomes in Management of Hypoplastic Left Heart Syndrome Associated with Congenital Diaphragmatic Hernia: an Algorithmic Approach. ( 29448010 )
2018
8
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
9
Interventional treatments and risk factors in patients born with hypoplastic left heart syndrome in England and Wales from 2000 to 2015. ( 29371373 )
2018
10
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
11
Prolonged PR Interval at Birth Predicting the High Occurrence of Fatal Atrioventricular Block in Hypoplastic Left Heart Syndrome. ( 29350247 )
2018
12
A potentially curative fetal intervention for hypoplastic left heart syndrome. ( 29317056 )
2018
13
Endocardial Fibroelastosis is Secondary to Hemodynamic Alterations in the Chick Embryonic Model of Hypoplastic Left Heart Syndrome. ( 28543854 )
2017
14
The Optimal Timing of Stage-2-Palliation for Hypoplastic Left Heart Syndrome: An analysis of the Pediatric Heart Network Single Ventricle Reconstruction Trial Public Dataset. ( 28687711 )
2017
15
Ventricular function and ventriculo-arterial coupling after palliation of hypoplastic left heart syndrome: A comparative study with Fontan patients with LV morphology. ( 27816303 )
2017
16
The Miracle Baby Grows Up: Hypoplastic Left Heart Syndrome in the Adult. ( 28744764 )
2017
17
Conducting Prolonged General Anesthesia without Intravenous Access in a Child with Hypoplastic Left Heart Syndrome. ( 29181203 )
2017
18
Endocardial Fibroelastosis of the Left Ventricle Affects Right Ventricular Performance in Fetuses with Hypoplastic Left Heart Syndrome: A Prospective Study Using M-Mode, PW- and Tissue Doppler Techniques. ( 28683514 )
2017
19
Ventricular function and vascular dimensions after Norwood and hybrid palliation of hypoplastic left heart syndrome. ( 28754809 )
2017
20
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
21
Cognitive Development of School-Age Hypoplastic Left Heart Syndrome Survivors: A Single Center Study. ( 28508919 )
2017
22
Interventions and Outcomes in Children With Hypoplastic Left Heart Syndrome Born in England and Wales Between 2000 and 2015 Based on the National Congenital Heart Disease Audit. ( 29084781 )
2017
23
Right ventricular systolic function in hypoplastic left heart syndrome: A comparison of manual and automated software to measure fractional area change. ( 28191731 )
2017
24
Modified Hybrid Procedure in Hypoplastic Left Heart Syndrome: Initial Experience of a Center in Northeastern Brazil. ( 28832800 )
2017
25
Prenatal Sonographic Diagnosis of Hypoplastic Left Heart Syndrome. ( 28904928 )
2017
26
Evolution of Ventricular Energetics in the Different Stages of Palliation of Hypoplastic Left Heart Syndrome: A Retrospective Clinical Study. ( 28831530 )
2017
27
Children with hypoplastic left heart syndrome have lower quality of life than healthy controls and children with other illnesses. ( 28847316 )
2017
28
Unique levoatriocardinal veins in neonates with hypoplastic left heart syndrome and intact atrial septum. ( 28889813 )
2017
29
Tricuspid Valve Adaptation during the First Interstage Period in Hypoplastic Left Heart Syndrome. ( 29290485 )
2017
30
NOTCH1-Dependent Nitric Oxide Signaling Deficiency in Hypoplastic Left Heart Syndrome Revealed Through Patient-Specific Phenotypes Detected in Bioengineered Cardiogenesis. ( 28142228 )
2017
31
Acute kidney injury following first-stage palliation in hypoplastic left heart syndrome: hybrid versus Norwood palliation. ( 28889833 )
2017
32
Hypoplastic left heart syndrome: from comfort care to long-term survival. ( 27701379 )
2017
33
Effectiveness of interstage home monitoring on healthcare outcomes in infants with hypoplastic left heart syndrome: a systematic review protocol. ( 29035962 )
2017
34
Hypoplastic Left Heart Syndrome with Intact or Restrictive Atrial Septum: A Report from the International Fetal Cardiac Intervention Registry. ( 28864444 )
2017
35
Evolution of Left Ventricular Size in Late Survivors of Surgery for Hypoplastic Left Heart Syndrome. ( 28410632 )
2017
36
Hypoplastic Left Heart Syndrome Sequencing Reveals a Novel NOTCH1 Mutation in a Family with Single Ventricle Defects. ( 28608148 )
2017
37
Re-evaluation of hypoplastic left heart syndrome from a developmental and morphological perspective. ( 28793912 )
2017
38
Hybrid Stage I Procedure as Initial Palliation for Neonate With Hypoplastic Left Heart Syndrome and Right Congenital Diaphragmatic Hernia. ( 28100120 )
2017
39
Chromosomal Abnormalities Affect the Surgical Outcome in Infants with Hypoplastic Left Heart Syndrome: A Large Cohort Analysis. ( 28921168 )
2017
40
Hypoplastic left heart syndrome: a novel surgical strategy for small-volume centres? ( 28329111 )
2017
41
Recoarctation After Norwood I Procedure for Hypoplastic Left Heart Syndrome: Impact of Patch Material. ( 28024650 )
2017
42
Model of Human Fetal Growth in Hypoplastic Left Heart Syndrome: Reduced Ventricular Growth Due to Decreased Ventricular Filling and Altered Shape. ( 28275592 )
2017
43
Interstage evaluation of homograft-valved right ventricle to pulmonary artery conduits for palliation of hypoplastic left heart syndrome. ( 29223842 )
2017
44
Neurodevelopmental Outcome in Children after Fetal Cardiac Intervention for Aortic Stenosis with Evolving Hypoplastic Left Heart Syndrome. ( 28233547 )
2017
45
Atrial septal defect morphology and stenting in hypoplastic left heart syndrome after hybrid palliation. ( 28889828 )
2017
46
Hypoplastic Left Heart Syndrome Is Not a Predictor of Worse Intermediate Mortality Post Fontan. ( 29096870 )
2017
47
Tricuspid Valve Hemangioma Associated with Hypoplastic Left Heart Syndrome Presenting as Sudden Infant Death Syndrome. ( 28272668 )
2017
48
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
49
In Utero Evidence of Impaired Somatic Growth in Hypoplastic Left Heart Syndrome. ( 28689327 )
2017
50
Utilisation of early intervention services in young children with hypoplastic left heart syndrome. ( 28847329 )
2017

Variations for Hypoplastic Left Heart Syndrome

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:

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 contractile fiber GO:0043292 8.96 GJA1 TNNI3
2 fascia adherens GO:0005916 8.62 CDH2 GJA1

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

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.85 GJA1 HAND1 MYH6 NOTCH1
2 negative regulation of cell growth GO:0030308 9.82 GJA1 NPPA NPPB
3 BMP signaling pathway GO:0030509 9.77 MYH6 NKX2-5 SMAD6
4 regulation of cardiac conduction GO:1903779 9.71 NKX2-5 NPPA TNNI3
5 regulation of blood pressure GO:0008217 9.71 LEP MYH6 NPPA NPPB
6 cardiac muscle contraction GO:0060048 9.69 MYH6 NKX2-5 TNNI3
7 blood vessel morphogenesis GO:0048514 9.67 CDH2 GJA1
8 outflow tract septum morphogenesis GO:0003148 9.67 NKX2-5 SMAD6
9 striated muscle contraction GO:0006941 9.67 MYH6 TNNI3
10 positive regulation of p38MAPK cascade GO:1900745 9.66 LEP XDH
11 cGMP biosynthetic process GO:0006182 9.66 NPPA NPPB
12 neuronal stem cell population maintenance GO:0097150 9.65 CDH2 NOTCH1
13 negative regulation of ossification GO:0030279 9.65 NOTCH1 SMAD6
14 positive regulation of JAK-STAT cascade GO:0046427 9.65 LEP NOTCH1
15 glial cell differentiation GO:0010001 9.64 CDH2 NOTCH1
16 negative regulation of myotube differentiation GO:0010832 9.63 NKX2-5 NOTCH1
17 ventricular trabecula myocardium morphogenesis GO:0003222 9.63 NKX2-5 NOTCH1
18 heart contraction GO:0060047 9.62 NKX2-5 TNNI3
19 cardiac muscle hypertrophy in response to stress GO:0014898 9.62 MYH6 NPPA
20 cardiac muscle tissue morphogenesis GO:0055008 9.61 NKX2-5 NOTCH1
21 regulation of blood vessel size GO:0050880 9.61 FOXC2 NPPA NPPB
22 cardiac septum morphogenesis GO:0060411 9.59 HAND1 NOTCH1
23 pulmonary valve morphogenesis GO:0003184 9.58 NOTCH1 SMAD6
24 cardiac ventricle morphogenesis GO:0003208 9.58 NKX2-5 NOTCH1
25 receptor guanylyl cyclase signaling pathway GO:0007168 9.57 NPPA NPPB
26 regulation of bone remodeling GO:0046850 9.56 GJA1 LEP
27 heart looping GO:0001947 9.56 GJA1 HAND1 NKX2-5 NOTCH1
28 cardiac muscle cell proliferation GO:0060038 9.54 FOXC2 NKX2-5 NOTCH1
29 adult heart development GO:0007512 9.5 GJA1 MYH6 NKX2-5
30 cardiac right ventricle formation GO:0003219 9.49 HAND1 NOTCH1
31 glomerular mesangial cell development GO:0072144 9.48 FOXC2 NOTCH1
32 atrioventricular node development GO:0003162 9.46 NKX2-5 NOTCH1
33 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.46 FOXC2 HAND1 MYH6 TNNI3
34 embryonic heart tube development GO:0035050 9.26 FOXC2 GJA1 HAND1 NKX2-5
35 heart development GO:0007507 9.17 FOXC2 FOXL1 GJA1 HAND1 NKX2-5 NOTCH1
36 positive regulation of transcription, DNA-templated GO:0045893 10.01 FOXC2 GATA5 HAND1 NKX2-5 NOTCH1
37 negative regulation of transcription by RNA polymerase II GO:0000122 10 EHMT1 FOXC2 HAND1 LEP NKX2-5 NOTCH1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.85 FOXC2 FOXL1 GATA5 NKX2-5 NOTCH1 SMAD6
2 receptor binding GO:0005102 9.78 GJA1 LEP NPPA NPPB
3 chromatin binding GO:0003682 9.76 GATA5 NKX2-5 NOTCH1 SMAD6
4 hormone activity GO:0005179 9.58 LEP NPPA NPPB
5 transcriptional activator activity, RNA polymerase II transcription factor binding GO:0001190 9.43 NKX2-5 NOTCH1
6 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.43 FOXC2 GATA5 NKX2-5
7 sequence-specific DNA binding GO:0043565 9.43 FOXC2 FOXL1 GATA5 HAND1 NKX2-5 NOTCH1
8 peptide hormone receptor binding GO:0051428 9.32 LEP NPPA
9 hormone receptor binding GO:0051427 9.16 NPPA NPPB
10 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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