MCID: HYP223
MIFTS: 32

Hypoplastic Right Heart Syndrome

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

Aliases & Classifications for Hypoplastic Right Heart Syndrome

MalaCards integrated aliases for Hypoplastic Right Heart Syndrome:

Name: Hypoplastic Right Heart Syndrome 12 20 58 6 15 32
Right Hypoplastic Heart Syndrome 70

Characteristics:

Orphanet epidemiological data:

58
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:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0070315
SNOMED-CT 67 268180007
ICD10 32 Q22.6
ICD10 via Orphanet 33 Q22.6
UMLS via Orphanet 71 C0265856 C0344963
Orphanet 58 ORPHA98723
UMLS 70 C0344963

Summaries for Hypoplastic Right Heart Syndrome

GARD : 20 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 heart septal defect and atrial heart septal defect. An important gene associated with Hypoplastic Right Heart Syndrome is TBX20 (T-Box Transcription Factor 20), and among its related pathways/superpathways are Cardiac Progenitor Differentiation and Heart Development. Affiliated tissues include heart, and related phenotype is muscle.

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

Related Diseases for Hypoplastic Right Heart Syndrome

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 heart septal defect 30.1 TBX5 TBX20 NKX2-5 HAND2
2 atrial heart septal defect 30.1 TBX5 TBX20 NKX2-5 HAND2
3 ventricular septal defect 30.0 TBX5 NKX2-5 HAND2
4 tricuspid atresia 29.8 TBX5 TBX20 NKX2-5 HAND2
5 pulmonary valve stenosis 29.8 TBX5 TBX20 NKX2-5
6 interatrial communication 29.8 TBX5 TBX20 NKX2-5
7 pulmonary atresia with intact ventricular septum 10.6
8 right ventricular hypoplasia, isolated 10.4
9 cyanosis, transient neonatal 10.2
10 mitral valve insufficiency 10.2
11 atrial septal aneurysm 10.2
12 char syndrome 10.1 TBX5 TBX20
13 noonan syndrome 1 10.0
14 williams-beuren syndrome 10.0
15 endocardial fibroelastosis 10.0
16 orthostatic intolerance 10.0
17 pulmonary valve insufficiency 10.0
18 tricuspid valve stenosis 10.0
19 aortic valve insufficiency 10.0
20 pseudo-turner syndrome 10.0
21 single ventricular heart 10.0
22 aneurysm 10.0
23 apert syndrome 10.0 TBX5 HAND2
24 total anomalous pulmonary venous return 1 10.0 TBX5 NKX2-5
25 pulmonary valve disease 10.0 TBX5 NKX2-5
26 sinoatrial node disease 9.9 TBX5 NKX2-5
27 dextro-looped transposition of the great arteries 9.9 TBX5 NKX2-5
28 atrial septal defect 2 9.8 TBX5 TBX20 NKX2-5
29 alagille syndrome 1 9.8 TBX5 NKX2-5
30 right atrial isomerism 9.8 TBX5 TBX20 NKX2-5
31 jacobsen syndrome 9.8 TBX5 TBX20 NKX2-5
32 velocardiofacial syndrome 9.8 TBX5 TBX20 NKX2-5
33 atrioventricular block 9.7 TBX5 NKX2-5
34 rasopathy 9.7 TBX5 TBX20 NKX2-5
35 left ventricular noncompaction 9.7 TBX5 TBX20 NKX2-5
36 aortic valve disease 1 9.7 TBX5 TBX20 NKX2-5
37 tricuspid valve disease 9.7 TBX5 TBX20 NKX2-5 HAND2
38 ebstein anomaly 9.7 TBX5 TBX20 NKX2-5 HAND2
39 ulnar-mammary syndrome 9.7 TBX5 TBX20 NKX2-5 HAND2
40 holt-oram syndrome 9.7 TBX5 TBX20 NKX2-5 HAND2
41 atrioventricular septal defect 9.7 TBX5 TBX20 NKX2-5 HAND2
42 patent ductus arteriosus 1 9.7 TBX5 TBX20 NKX2-5 HAND2
43 double outlet right ventricle 9.7 TBX5 TBX20 NKX2-5 HAND2
44 patent foramen ovale 9.7 TBX5 TBX20 NKX2-5 HAND2
45 digeorge syndrome 9.6 TBX5 TBX20 NKX2-5 HAND2
46 tetralogy of fallot 9.6 TBX5 TBX20 NKX2-5 HAND2
47 noonan syndrome with multiple lentigines 9.6 TBX5 NKX2-5
48 lipoprotein quantitative trait locus 9.6 TBX5 TBX20 NKX2-5 HAND2
49 hypoplastic left heart syndrome 9.3 ZNF845 TBX5 TBX20 NKX2-5 HAND2 DNAAF8
50 dilated cardiomyopathy 9.3 TBX5 TBX20 NKX2-5 MYLK3 HAND2

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

MGI Mouse Phenotypes related to Hypoplastic Right Heart Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 HAND2 MYLK3 NKX2-5 TBX20 TBX5

Drugs & Therapeutics for Hypoplastic Right Heart Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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:

40
Heart

Publications for Hypoplastic Right Heart Syndrome

Articles related to Hypoplastic Right Heart Syndrome:

(show all 49)
# Title Authors PMID Year
1
[Fetal cardiac intervention and perioperative management of fetus with hypoplastic right heart syndrome]. 61
33355758 2020
2
Single-Cell Transcriptomics of Engineered Cardiac Tissues From Patient-Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes Reveals Abnormal Developmental Trajectory and Intrinsic Contractile Defects in Hypoplastic Right Heart Syndrome. 61
33059525 2020
3
Is there a transcatheter solution for a sick neonate with hypoplastic right heart syndrome?: Pulmonary valve perforation in a neonate with hypoplastic right ventricle with pulmonary atresia, restrictive VSD-a case report. 61
32990873 2020
4
[Application of arterial duct stent in ductus-dependent hypoplastic right heart syndrome]. 61
32234140 2020
5
Minor alleles of genetic variants in second heart field increase the risk of hypoplastic right heart syndrome. 61
31204705 2019
6
Family-Centered Culture Care: Touched by an Angel. 61
31851628 2019
7
Copy number variants in hypoplastic right heart syndrome. 61
30289599 2018
8
The boundaries of fetal cardiac intervention: Expand or tighten? 61
28867155 2017
9
Fetal interventions for structural heart disease. 61
29287139 2017
10
Cerebrovascular hemodynamics in fetuses with congenital heart disease. 61
29287136 2017
11
Resuscitation of a Newborn with Right Hypoplastic Heart Syndrome: A Rare Confrontation for an Anesthesiologist. 61
29284892 2017
12
Hypoplastic Left Heart Syndrome Sequencing Reveals a Novel NOTCH1 Mutation in a Family with Single Ventricle Defects. 61
28608148 2017
13
Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome. 61
28009100 2017
14
Hypoplastic right heart syndrome, absent pulmonary valve, and non-compacted left ventricle in an adult. 61
27751299 2016
15
Fetal interventions for congenital heart disease. 61
26886784 2016
16
Fetal cardiac interventions: clinical and experimental research. 61
27279868 2016
17
"Rigid body rotation" of the left ventricle in hypoplastic right-heart syndrome: a case from the three-dimensional speckle-tracking echocardiographic MAGYAR-Path Study. 61
24932961 2015
18
Outcomes and management strategies in pregnancies with early onset oligohydramnios. 61
26152010 2015
19
Fetal cardiac interventions: an update of therapeutic options. 61
25372914 2014
20
Variety of prenatally diagnosed congenital heart disease in 22q11.2 deletion syndrome. 61
24596813 2014
21
LEFT VENTRICULAR INFLOW OBSTRUCTION BY GIANT ATRIAL SEPTAL ANEURYSM IN A NEONATE WITH HYPOPLASTIC RIGHT HEART SYNDROME: CASE REPORT. 61
26866104 2013
22
Hypoplastic right-heart syndrome presenting as multiple miscarriages. 61
22740745 2012
23
Prenatal diagnosis of bilateral ventriculocoronary fistulas with hypoplasia of the left ventricle. 61
18577679 2008
24
Prenatal diagnosis of the hypoplastic right heart syndrome with sex chromosome pentasomy (49,XXXXY). 61
17323405 2007
25
Noncardiac malformations in congenital heart disease: a retrospective analysis of 305 pediatric autopsies. 61
16052857 2005
26
[Interventional therapy for complex congenital heart disease]. 61
15631702 2004
27
Aortic stenosis in hypoplastic right heart syndrome, associated with interstitial deletion of chromosome 2. 61
9476678 1997
28
Percutaneous coil embolization and balloon-expandable stenting; new treatments in intractable cardiac failure after Fontan procedure: a case report. 61
8708524 1996
29
[Pulsatile total cavopulmonary shunt for hypoplastic right heart syndrome with abnormal systemic venous return--a case report]. 61
7884251 1995
30
Separation of thoracopagus conjoined twins. A case report. 61
7995841 1994
31
Early and late results of the modified Waterston shunt with PTFE grafts for palliation of complex congenital cyanotic heart disease in neonates. 61
1785113 1991
32
The value of the autopsy in congenital heart disease. 61
1879103 1991
33
The bidirectional cavopulmonary shunt. 61
1694938 1990
34
Tricuspid atresia versus other complex lesions. Comparison of results with a modified Fontan procedure. 61
3398542 1988
35
Ventriculocoronary connections in hypoplastic right heart syndrome: autopsy serial section study of six cases. 61
3281992 1988
36
[Mitral valve abnormalities in the hypoplastic right heart syndrome: echocardiographic observations]. 61
3429912 1986
37
Soft-tissue swelling in two neonates during prostaglandin E1 therapy. 61
3543871 1986
38
Magnetic resonance imaging in patients with hypoplastic right heart syndrome. 61
4013974 1985
39
Balloon occlusion of atrial septal defect to assess right ventricular capability in hypoplastic right heart syndrome. 61
6225563 1983
40
Fatal postoperative acute appendicitis in a neonate with congenital heart disease. 61
7229854 1981
41
Separation of conjoined thoracopagous twins joined at the right atrial. 61
420116 1979
42
Epicardial nodules: a possible sign of coronary endarteritis with hypoplastic right heart syndrome. 61
661054 1978
43
Echocardiographic diagnosis of atrial septal aneurysm in an infant with hypoplastic right heart syndrome. 61
620589 1978
44
Cyanotic heart disease: "low altitude" risk for carotid body tumor? 61
625092 1978
45
[Right atrium-pulmonary artery bypass for the correction of hypoplastic right heart syndrome]. 61
944746 1976
46
Coronary and endocardial fibroelastosis of the ventricles in the hypoplastic left and right heart syndromes. 61
810950 1975
47
Proceedings: Use of right atrium to pulmonary artery valved conduit for 'correction' of single ventricle of hypoplastic right heart syndrome. 61
1156498 1975
48
Surgical management of the hypoplastic right heart syndrome. 61
5484627 1970
49
Endocardial fibroelastosis of the right ventricle in the newborn. Presenting the clinical picture of the hypoplastic right heart syndrome. 61
4224286 1966

Variations for Hypoplastic Right Heart Syndrome

ClinVar genetic disease variations for Hypoplastic Right Heart Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBX20 NM_001077653.2(TBX20):c.995del (p.Pro332fs) Deletion Pathogenic 438266 rs1554284604 GRCh37: 7:35244090-35244090
GRCh38: 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

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

# Super pathways Score Top Affiliating Genes
1 10.98 TBX5 TBX20 NKX2-5 MYLK3
2 10.59 TBX5 TBX20 NKX2-5 HAND2

GO Terms for Hypoplastic Right Heart Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.1 TBX5 TBX20 PRRX2 NKX2-5 HAND2 DMRTB1
2 protein-DNA complex GO:0032993 8.96 TBX5 NKX2-5

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.91 TBX5 TBX20 PRRX2 NKX2-5 HAND2
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.89 ZNF845 TBX5 TBX20 NKX2-5 HAND2
3 positive regulation of transcription, DNA-templated GO:0045893 9.88 TBX5 TBX20 NKX2-5 HAND2
4 heart development GO:0007507 9.74 TBX5 NKX2-5 HAND2
5 regulation of transcription by RNA polymerase II GO:0006357 9.7 ZNF845 TBX5 TBX20 PRRX2 NKX2-5 HAND2
6 vasculogenesis GO:0001570 9.59 TBX20 NKX2-5
7 heart morphogenesis GO:0003007 9.58 NKX2-5 HAND2
8 positive regulation of cardiac muscle cell proliferation GO:0060045 9.56 TBX5 TBX20
9 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.55 NKX2-5 HAND2
10 cell fate specification GO:0001708 9.54 TBX5 TBX20
11 aortic valve morphogenesis GO:0003180 9.52 TBX20 NKX2-5
12 regulation of transcription, DNA-templated GO:0006355 9.5 ZNF845 TBX5 TBX20 PRRX2 NKX2-5 HAND2
13 outflow tract septum morphogenesis GO:0003148 9.48 TBX20 NKX2-5
14 cardiac muscle cell differentiation GO:0055007 9.46 TBX5 NKX2-5
15 embryonic heart tube development GO:0035050 9.43 TBX20 NKX2-5
16 heart looping GO:0001947 9.43 TBX20 NKX2-5 HAND2
17 adult heart development GO:0007512 9.4 NKX2-5 HAND2
18 cardiac muscle tissue morphogenesis GO:0055008 9.37 TBX20 NKX2-5
19 positive regulation of cardioblast differentiation GO:0051891 9.32 TBX5 NKX2-5
20 atrial septum morphogenesis GO:0060413 8.8 TBX5 TBX20 NKX2-5

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.87 ZNF845 TBX5 TBX20 PRRX2 NKX2-5 HAND2
2 sequence-specific double-stranded DNA binding GO:1990837 9.71 TBX20 PRRX2 NKX2-5 HAND2
3 sequence-specific DNA binding GO:0043565 9.67 TBX5 NKX2-5 HAND2 DMRTB1
4 DNA-binding transcription factor activity GO:0003700 9.65 TBX5 TBX20 PRRX2 NKX2-5 DMRTB1
5 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.63 TBX5 TBX20 PRRX2 NKX2-5 HAND2 DMRTB1
6 transcription factor binding GO:0008134 9.61 TBX5 NKX2-5 HAND2
7 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.43 ZNF845 TBX5 TBX20 PRRX2 NKX2-5 DMRTB1
8 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.02 ZNF845 TBX5 TBX20 NKX2-5 HAND2

Sources for Hypoplastic Right Heart Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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