MCID: HYP223
MIFTS: 20

Hypoplastic Right Heart Syndrome

Categories: Rare diseases, Cardiovascular diseases

Aliases & Classifications for Hypoplastic Right Heart Syndrome

MalaCards integrated aliases for Hypoplastic Right Heart Syndrome:

Name: Hypoplastic Right Heart Syndrome 53 6
Right Hypoplastic Heart Syndrome 73

Classifications:



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ICD10 33 Q22.6
UMLS 73 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 pulmonary atresia with intact ventricular septum and right ventricular hypoplasia, isolated. An important gene associated with Hypoplastic Right Heart Syndrome is TBX20 (T-Box 20). The drugs Citric Acid and Sildenafil Citrate have been mentioned in the context of this disorder. Affiliated tissues include heart and lung.

Wikipedia : 76 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:

# Related Disease Score Top Affiliating Genes
1 pulmonary atresia with intact ventricular septum 10.4
2 right ventricular hypoplasia, isolated 10.4
3 aneurysm 10.0
4 atrial septal aneurysm 10.0
5 endocardial fibroelastosis 9.8
6 tricuspid atresia 9.8
7 atrial heart septal defect 9.8
8 complete atrioventricular canal 9.8

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

Drugs & Therapeutics for Hypoplastic Right Heart Syndrome

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citric Acid Approved, Nutraceutical, Vet_approved Phase 1 77-92-9 311
2 Sildenafil Citrate Phase 1 171599-83-0
3 Vasodilator Agents Phase 1
4 Phosphodiesterase 5 Inhibitors Phase 1
5 Phosphodiesterase Inhibitors Phase 1
6 Citrate Nutraceutical Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sildenafil in Single Ventricle Patients Completed NCT01169519 Phase 1 Sildenafil by injection;Sildenafil by injection;Sildenafil by injection;Sildenafil by injection
2 Genetic Determinants of Congenital Heart Disease Outcomes 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:

(show all 17)
# Title Authors Year
1
Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome. ( 28009100 )
2016
2
Hypoplastic right heart syndrome, absent pulmonary valve, and non-compacted left ventricle in an adult. ( 27751299 )
2016
3
"Rigid body rotation" of the left ventricle in hypoplastic right-heart syndrome: a case from the three-dimensional speckle-tracking echocardiographic MAGYAR-Path Study. ( 24932961 )
2014
4
LEFT VENTRICULAR INFLOW OBSTRUCTION BY GIANT ATRIAL SEPTAL ANEURYSM IN A NEONATE WITH HYPOPLASTIC RIGHT HEART SYNDROME: CASE REPORT. ( 26866104 )
2013
5
LEFT VENTRICULAR INFLOW OBSTRUCTION BY GIANT ATRIAL SEPTAL ANEURYSM IN A NEONATE WITH HYPOPLASTIC RIGHT HEART SYNDROME: CASE REPORT. ( 26866175 )
2013
6
Hypoplastic right-heart syndrome presenting as multiple miscarriages. ( 22740745 )
2012
7
Prenatal diagnosis of the hypoplastic right heart syndrome with sex chromosome pentasomy (49,XXXXY). ( 17323405 )
2007
8
Aortic stenosis in hypoplastic right heart syndrome, associated with interstitial deletion of chromosome 2. ( 9476678 )
1997
9
Ventriculocoronary connections in hypoplastic right heart syndrome: autopsy serial section study of six cases. ( 3281992 )
1988
10
Magnetic resonance imaging in patients with hypoplastic right heart syndrome. ( 4013974 )
1985
11
Balloon occlusion of atrial septal defect to assess right ventricular capability in hypoplastic right heart syndrome. ( 6225563 )
1983
12
Echocardiographic diagnosis of atrial septal aneurysm in an infant with hypoplastic right heart syndrome. ( 620589 )
1978
13
Epicardial nodules: a possible sign of coronary endarteritis with hypoplastic right heart syndrome. ( 661054 )
1978
14
Two-dimensional echocardiography in diagnosing tricuspid atresia. Differentiation from other hypoplastic right heart syndromes and common atrioventricular canal. ( 708520 )
1978
15
Proceedings: Use of right atrium to pulmonary artery valved conduit for 'correction' of single ventricle of hypoplastic right heart syndrome. ( 1156498 )
1975
16
Surgical management of the hypoplastic right heart syndrome. ( 5484627 )
1970
17
Endocardial fibroelastosis of the right ventricle in the newborn. Presenting the clinical picture of the hypoplastic right heart syndrome. ( 4224286 )
1966

Variations for Hypoplastic Right Heart Syndrome

ClinVar genetic disease variations for Hypoplastic Right Heart Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TBX20 NM_001077653.2(TBX20): c.995delC (p.Pro332Glnfs) deletion Pathogenic GRCh37 Chromosome 7, 35244090: 35244090
2 TBX20 NM_001077653.2(TBX20): c.995delC (p.Pro332Glnfs) deletion Pathogenic GRCh38 Chromosome 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

Sources for Hypoplastic Right Heart Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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