MCID: HYP517
MIFTS: 25

Hypoplastic Left Heart Syndrome 2

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

Aliases & Classifications for Hypoplastic Left Heart Syndrome 2

MalaCards integrated aliases for Hypoplastic Left Heart Syndrome 2:

Name: Hypoplastic Left Heart Syndrome 2 54 24 71 29 13 69
Hlhs2 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
hypoplastic left heart syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypoplastic Left Heart Syndrome 2

OMIM : 54
Hypoplastic left heart syndrome results from defective development of the aorta proximal to the entrance of the ductus arteriosus and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged (Brekke, 1953). For a discussion of genetic heterogeneity of hypoplastic left heart syndrome, see HLHS1 (241550). (614435)

MalaCards based summary : Hypoplastic Left Heart Syndrome 2, also known as hlhs2, is related to ventricular septal defect 3, and has symptoms including ventricular septal defect, hypoplastic left heart and aortic valve atresia. An important gene associated with Hypoplastic Left Heart Syndrome 2 is NKX2-5 (NK2 Homeobox 5). The drugs Bosentan and Antihypertensive Agents have been mentioned in the context of this disorder. Affiliated tissues include heart.

UniProtKB/Swiss-Prot : 71 Hypoplastic left heart syndrome 2: A syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged.

Related Diseases for Hypoplastic Left Heart Syndrome 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 ventricular septal defect 3 10.9

Symptoms & Phenotypes for Hypoplastic Left Heart Syndrome 2

Symptoms via clinical synopsis from OMIM:

54

Cardiovascular- Heart:
mitral valve atresia
aortic valve atresia
ventricular septal defect
hypoplastic left heart


Clinical features from OMIM:

614435

Human phenotypes related to Hypoplastic Left Heart Syndrome 2:

32
id Description HPO Frequency HPO Source Accession
1 ventricular septal defect 32 HP:0001629
2 hypoplastic left heart 32 HP:0004383
3 aortic valve atresia 32 HP:0010883
4 mitral atresia 32 HP:0011560

Drugs & Therapeutics for Hypoplastic Left Heart Syndrome 2

Drugs for Hypoplastic Left Heart Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 37)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bosentan Approved, Investigational Phase 2 147536-97-8 104865
2 Antihypertensive Agents Phase 2
3 Endothelin Receptor Antagonists Phase 2
4 Phosphodiesterase 5 Inhibitors Phase 2
5 Phosphodiesterase Inhibitors Phase 2
6 Sildenafil Citrate Phase 2 171599-83-0
7 Vasodilator Agents Phase 2
8 Adrenergic Agents Phase 2,Phase 1
9 Neurotransmitter Agents Phase 2,Phase 1
10 Epoetin alfa Phase 1, Phase 2 113427-24-0
11 Hematinics Phase 1, Phase 2
12 Citrate Nutraceutical Phase 2
13
Citric Acid Nutraceutical, Vet_approved Phase 2 77-92-9 311
14
Dexmedetomidine Approved, Vet_approved Phase 1 76631-46-4, 113775-47-6 68602 5311068 56032
15 Adrenergic Agonists Phase 1
16 Adrenergic alpha-2 Receptor Agonists Phase 1
17 Adrenergic alpha-Agonists Phase 1
18 Analgesics Phase 1
19 Analgesics, Non-Narcotic Phase 1
20 Central Nervous System Depressants Phase 1
21 Hypnotics and Sedatives Phase 1
22 Peripheral Nervous System Agents Phase 1
23
Bupropion Approved 34841-39-9, 34911-55-2 444
24
Dopamine Approved 51-61-6, 62-31-7 681
25
Ethanol Approved 64-17-5 702
26
Caffeine Approved, Nutraceutical 58-08-2 2519
27 Antidepressive Agents
28 Antidepressive Agents, Second-Generation
29 Antidepressive Agents, Tricyclic
30 Cytochrome P-450 CYP2D6 Inhibitors
31 Cytochrome P-450 Enzyme Inhibitors
32 Dopamine Agents
33 Dopamine Uptake Inhibitors
34 Neurotransmitter Uptake Inhibitors
35 Psychotropic Drugs
36 Vitamins
37 Calamus Nutraceutical

Interventional clinical trials:

(show all 23)

id 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 Positive Pressure Ventilation and Sternal Closure in HLHS Recruiting NCT02455713 Phase 2, Phase 3
3 Study of Placebo or Bosentan to Treat Patients With Single Ventricle Physiology. Completed NCT01292551 Phase 2 Bosentan;Placebo
4 Cardiac Progenitor Cell Infusion to Treat Univentricular Heart Disease (PERSEUS) Completed NCT01829750 Phase 2
5 Sildenafil After the Fontan Operation Completed NCT00507819 Phase 2 Sildenafil;Placebo
6 Fetal Intervention for Aortic Stenosis and Evolving Hypoplastic Left Heart Syndrome Recruiting NCT01736956 Phase 1, Phase 2
7 Ambrisentan in Single Ventricle Recruiting NCT02080637 Phase 2 Ambrisentan
8 Erythropoetin Neuroprotection for Neonatal Cardiac Surgery Active, not recruiting NCT00513240 Phase 1, Phase 2 Erythropoetin;Normal saline
9 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle Not yet recruiting NCT03079401 Phase 1, Phase 2
10 Maternal Hyperoxygenation in Congenital Heart Disease Not yet recruiting NCT03136835 Phase 1, Phase 2 Maternal Hyperoxygenation
11 Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery Withdrawn NCT00770705 Phase 2 Phenoxybenzamine
12 Understanding Dexmedetomidine in Neonates After Open Heart Surgery Completed NCT00576381 Phase 1 Dexmedetomidine
13 Understanding Dexmedetomidine In Infants Post-Operative From Cardiac Surgery Completed NCT00573066 Phase 1 Dexmedetomidine
14 Biomarker Study for Heart Failure in Children With Single Ventricle Physiology Completed NCT00571233
15 Bupropion & Cardio Birth Defect (Slone) Completed NCT01597661 Exposure to any bupropion during the first trimester;Exposure to bupropion alone during the first trimester
16 Quality of Life Among Children With Congenital Heart Disease Completed NCT01202916
17 Cerebral Anatomy, Hemodynamics and Metabolism Recruiting NCT02919956
18 Oxygen Consumption-based Assessments of Hemodynamics in Neonates Following Congenital Heart Surgery (Oxy-CAHN Study) Recruiting NCT02184169
19 A Prospective Study of Patients With Hypoplastic Left Heart Syndrome (HLHS) Following Stage II Surgical Palliation Recruiting NCT01708863
20 SVRII Family Factors Study Recruiting NCT01582529
21 Genetic Determinants of Congenital Heart Disease Outcomes Recruiting NCT01656941
22 Long-term Outcomes of Children With Hypoplastic Left Heart Syndrome and the Impact of Norwood Shunt Type Enrolling by invitation NCT02455531
23 Cardiovascular Response to Maternal Hyperoxygenation in Fetal Congenital Heart Disease Enrolling by invitation NCT03147014

Search NIH Clinical Center for Hypoplastic Left Heart Syndrome 2

Genetic Tests for Hypoplastic Left Heart Syndrome 2

Genetic tests related to Hypoplastic Left Heart Syndrome 2:

id Genetic test Affiliating Genes
1 Hypoplastic Left Heart Syndrome 2 29 24 NKX2-5

Anatomical Context for Hypoplastic Left Heart Syndrome 2

MalaCards organs/tissues related to Hypoplastic Left Heart Syndrome 2:

39
Heart

Publications for Hypoplastic Left Heart Syndrome 2

Variations for Hypoplastic Left Heart Syndrome 2

Expression for Hypoplastic Left Heart Syndrome 2

Search GEO for disease gene expression data for Hypoplastic Left Heart Syndrome 2.

Pathways for Hypoplastic Left Heart Syndrome 2

GO Terms for Hypoplastic Left Heart Syndrome 2

Sources for Hypoplastic Left Heart Syndrome 2

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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