MCID: HYP223
MIFTS: 38

Hypoplastic Right Heart Syndrome

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Hypoplastic Right Heart Syndrome

MalaCards integrated aliases for Hypoplastic Right Heart Syndrome:

Name: Hypoplastic Right Heart Syndrome 12 53 59 6 15 33
Right Hypoplastic Heart Syndrome 72

Characteristics:

Orphanet epidemiological data:

59
hypoplastic right heart syndrome
Prevalence: 1-9/100000 (Europe),1-9/100000 (Belgium),1-5/10000 (Denmark),1-9/100000 (France),1-9/100000 (Germany),1-9/100000 (Hungary),1-9/100000 (Ireland),1-9/100000 (Italy),1-5/10000 (Malta),1-9/100000 (Netherlands),1-9/100000 (Norway),1-9/1000000 (Poland),1-5/10000 (Switzerland),1-9/100000 (United Kingdom),1-9/100000 (Ukraine),1-9/1000000 (Spain);

Classifications:



External Ids:

Disease Ontology 12 DOID:0070315
ICD10 33 Q22.6
ICD10 via Orphanet 34 Q22.6
UMLS via Orphanet 73 C0265856 C0344963
Orphanet 59 ORPHA98723
UMLS 72 C0344963

Summaries for Hypoplastic Right Heart Syndrome

NIH Rare Diseases : 53 Hypoplastic right heart syndrome is a rare heart defect, present at birth (congenital), that results in low blood oxygen levels. It is caused by underdevelopment of the structures on the right side of the heart (tricuspid valve, right ventricle, pulmonary valve, and pulmonary artery) and commonly associated with atrial septal defect. The underdeveloped right side of the heart is unable to provide enough blood flow to the body, leading to low blood oxygen and cyanosis. It differs from hypoplastic left heart syndrome which involves the underdevelopment of the structures on the left side of the heart.

MalaCards based summary : Hypoplastic Right Heart Syndrome, also known as right hypoplastic heart syndrome, is related to aortic valve disease 1 and pulmonary atresia with intact ventricular septum. An important gene associated with Hypoplastic Right Heart Syndrome is TBX20 (T-Box Transcription Factor 20), and among its related pathways/superpathways are Focal Adhesion and Regulation of actin cytoskeleton. The drugs Sodium citrate and Citric acid have been mentioned in the context of this disorder. Affiliated tissues include heart and lung, and related phenotypes are Decreased cell migration and cardiovascular system

Disease Ontology : 12 A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect.

Wikipedia : 75 Hypoplastic right heart syndrome is a congenital heart defect in which the right atrium and right... more...

Related Diseases for Hypoplastic Right Heart Syndrome

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



Diseases related to Hypoplastic Right Heart Syndrome

Symptoms & Phenotypes for Hypoplastic Right Heart Syndrome

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

26 (showing 1, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 8.92 ERBB4 FGR MYLK3 SOS1

MGI Mouse Phenotypes related to Hypoplastic Right Heart Syndrome:

46 (showing 10, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.26 ERBB4 F10 FGF19 FGR ITGB8 MYLK3
2 cellular MP:0005384 10.11 EPB41L3 ERBB4 FGF19 ITGB8 NOTCH1 RBL2
3 embryo MP:0005380 10.06 ERBB4 FGF19 ITGB8 NOTCH1 RBL2 RPGRIP1L
4 mortality/aging MP:0010768 10.03 EPB41L3 ERBB4 F10 FGF19 ITGB8 MYLK3
5 homeostasis/metabolism MP:0005376 9.97 F10 FGF19 ITGB8 MYLK3 NOTCH1 RBL2
6 craniofacial MP:0005382 9.91 ERBB4 ITGB8 NOTCH1 RBL2 RPGRIP1L SOS1
7 hearing/vestibular/ear MP:0005377 9.77 FGF19 NOTCH1 RBL2 RPGRIP1L SALL1
8 muscle MP:0005369 9.7 ERBB4 MYLK3 NOTCH1 RBL2 RPGRIP1L SOS1
9 nervous system MP:0003631 9.61 EPB41L3 ERBB4 FGF19 ITGB8 NOTCH1 RBL2
10 normal MP:0002873 9.23 EPB41L3 ERBB4 FGR ITGB8 NOTCH1 RBL2

Drugs & Therapeutics for Hypoplastic Right Heart Syndrome

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

(showing 7, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 1 68-04-2
2
Citric acid Approved, Nutraceutical, Vet_approved Phase 1 77-92-9 311
3 Sildenafil Citrate Phase 1 171599-83-0
4 Citrate Phase 1
5 Phosphodiesterase Inhibitors Phase 1
6 Phosphodiesterase 5 Inhibitors Phase 1
7 Vasodilator Agents Phase 1

Interventional clinical trials:

(showing 2, show less)
# Name Status NCT ID Phase Drugs
1 Safety, Pharmacokinetics and Hemodynamic Efficacy of Sildenafil in Single Ventricle Patients Completed NCT01169519 Phase 1 Sildenafil by injection;Sildenafil by injection;Sildenafil by injection;Sildenafil by injection
2 The GECHO Trial: Genetic Determinants of Congenital Heart Disease Outcomes Active, not recruiting NCT01656941

Search NIH Clinical Center for Hypoplastic Right Heart Syndrome

Genetic Tests for Hypoplastic Right Heart Syndrome

Anatomical Context for Hypoplastic Right Heart Syndrome

MalaCards organs/tissues related to Hypoplastic Right Heart Syndrome:

41
Heart, Lung

Publications for Hypoplastic Right Heart Syndrome

Articles related to Hypoplastic Right Heart Syndrome:

(showing 44, show less)
# Title Authors PMID Year
1
Minor alleles of genetic variants in second heart field increase the risk of hypoplastic right heart syndrome. 38
31204705 2019
2
Copy number variants in hypoplastic right heart syndrome. 38
30289599 2018
3
Cerebrovascular hemodynamics in fetuses with congenital heart disease. 38
29287136 2017
4
Fetal interventions for structural heart disease. 38
29287139 2017
5
The boundaries of fetal cardiac intervention: Expand or tighten? 38
28867155 2017
6
Resuscitation of a Newborn with Right Hypoplastic Heart Syndrome: A Rare Confrontation for an Anesthesiologist. 38
29284892 2017
7
Hypoplastic Left Heart Syndrome Sequencing Reveals a Novel NOTCH1 Mutation in a Family with Single Ventricle Defects. 38
28608148 2017
8
Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome. 38
28009100 2017
9
Hypoplastic right heart syndrome, absent pulmonary valve, and non-compacted left ventricle in an adult. 38
27751299 2016
10
Fetal interventions for congenital heart disease. 38
26886784 2016
11
Fetal cardiac interventions: clinical and experimental research. 38
27279868 2016
12
"Rigid body rotation" of the left ventricle in hypoplastic right-heart syndrome: a case from the three-dimensional speckle-tracking echocardiographic MAGYAR-Path Study. 38
24932961 2015
13
Outcomes and management strategies in pregnancies with early onset oligohydramnios. 38
26152010 2015
14
Fetal cardiac interventions: an update of therapeutic options. 38
25372914 2014
15
Variety of prenatally diagnosed congenital heart disease in 22q11.2 deletion syndrome. 38
24596813 2014
16
LEFT VENTRICULAR INFLOW OBSTRUCTION BY GIANT ATRIAL SEPTAL ANEURYSM IN A NEONATE WITH HYPOPLASTIC RIGHT HEART SYNDROME: CASE REPORT. 38
26866104 2013
17
Hypoplastic right-heart syndrome presenting as multiple miscarriages. 38
22740745 2012
18
Prenatal diagnosis of bilateral ventriculocoronary fistulas with hypoplasia of the left ventricle. 38
18577679 2008
19
Prenatal diagnosis of the hypoplastic right heart syndrome with sex chromosome pentasomy (49,XXXXY). 38
17323405 2007
20
Noncardiac malformations in congenital heart disease: a retrospective analysis of 305 pediatric autopsies. 38
16052857 2005
21
[Interventional therapy for complex congenital heart disease]. 38
15631702 2004
22
Aortic stenosis in hypoplastic right heart syndrome, associated with interstitial deletion of chromosome 2. 38
9476678 1997
23
Percutaneous coil embolization and balloon-expandable stenting; new treatments in intractable cardiac failure after Fontan procedure: a case report. 38
8708524 1996
24
[Pulsatile total cavopulmonary shunt for hypoplastic right heart syndrome with abnormal systemic venous return--a case report]. 38
7884251 1995
25
Separation of thoracopagus conjoined twins. A case report. 38
7995841 1994
26
Early and late results of the modified Waterston shunt with PTFE grafts for palliation of complex congenital cyanotic heart disease in neonates. 38
1785113 1991
27
The value of the autopsy in congenital heart disease. 38
1879103 1991
28
The bidirectional cavopulmonary shunt. 38
1694938 1990
29
Tricuspid atresia versus other complex lesions. Comparison of results with a modified Fontan procedure. 38
3398542 1988
30
Ventriculocoronary connections in hypoplastic right heart syndrome: autopsy serial section study of six cases. 38
3281992 1988
31
[Mitral valve abnormalities in the hypoplastic right heart syndrome: echocardiographic observations]. 38
3429912 1986
32
Soft-tissue swelling in two neonates during prostaglandin E1 therapy. 38
3543871 1986
33
Magnetic resonance imaging in patients with hypoplastic right heart syndrome. 38
4013974 1985
34
Balloon occlusion of atrial septal defect to assess right ventricular capability in hypoplastic right heart syndrome. 38
6225563 1983
35
Fatal postoperative acute appendicitis in a neonate with congenital heart disease. 38
7229854 1981
36
Separation of conjoined thoracopagous twins joined at the right atrial. 38
420116 1979
37
Epicardial nodules: a possible sign of coronary endarteritis with hypoplastic right heart syndrome. 38
661054 1978
38
Echocardiographic diagnosis of atrial septal aneurysm in an infant with hypoplastic right heart syndrome. 38
620589 1978
39
Cyanotic heart disease: "low altitude" risk for carotid body tumor? 38
625092 1978
40
[Right atrium-pulmonary artery bypass for the correction of hypoplastic right heart syndrome]. 38
944746 1976
41
Coronary and endocardial fibroelastosis of the ventricles in the hypoplastic left and right heart syndromes. 38
810950 1975
42
Proceedings: Use of right atrium to pulmonary artery valved conduit for 'correction' of single ventricle of hypoplastic right heart syndrome. 38
1156498 1975
43
Surgical management of the hypoplastic right heart syndrome. 38
5484627 1970
44
Endocardial fibroelastosis of the right ventricle in the newborn. Presenting the clinical picture of the hypoplastic right heart syndrome. 38
4224286 1966

Variations for Hypoplastic Right Heart Syndrome

ClinVar genetic disease variations for Hypoplastic Right Heart Syndrome:

6 (showing 1, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TBX20 NM_001077653.2(TBX20): c.995del (p.Pro332fs) deletion Pathogenic rs1554284604 7:35244090-35244090 7:35204478-35204478

Expression for Hypoplastic Right Heart Syndrome

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

Pathways for Hypoplastic Right Heart Syndrome

GO Terms for Hypoplastic Right Heart Syndrome

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

(showing 17, show less)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.87 TBX20 SALL1 NOTCH1 ERBB4
2 positive regulation of cell migration GO:0030335 9.73 NOTCH1 FGR F10
3 MAPK cascade GO:0000165 9.72 SOS1 FGF19 ERBB4
4 positive regulation of protein kinase B signaling GO:0051897 9.67 FGF19 F10 ERBB4
5 negative regulation of gene expression GO:0010629 9.67 RBL2 NOTCH1 ITGB8 FGF19
6 ERBB2 signaling pathway GO:0038128 9.54 SOS1 ERBB4
7 embryonic hindlimb morphogenesis GO:0035116 9.52 RPGRIP1L NOTCH1
8 positive regulation of JAK-STAT cascade GO:0046427 9.51 NOTCH1 ERBB4
9 aortic valve morphogenesis GO:0003180 9.48 TBX20 NOTCH1
10 cardiac muscle tissue morphogenesis GO:0055008 9.46 TBX20 NOTCH1
11 endocardial cushion morphogenesis GO:0003203 9.43 TBX20 NOTCH1
12 heart trabecula morphogenesis GO:0061384 9.4 SOS1 NOTCH1
13 positive regulation of cardiac muscle cell proliferation GO:0060045 9.33 TBX20 NOTCH1 ERBB4
14 cardiac atrium morphogenesis GO:0003209 9.32 SOS1 NOTCH1
15 olfactory bulb interneuron differentiation GO:0021889 9.26 SALL1 ERBB4
16 cardiac chamber formation GO:0003207 8.96 TBX20 NOTCH1
17 pericardium morphogenesis GO:0003344 8.8 TBX20 SOS1 NOTCH1

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

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.32 SOS1

Sources for Hypoplastic Right Heart Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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