MCID: SBV001
MIFTS: 31

Subvalvular Aortic Stenosis

Categories: Cardiovascular diseases, Rare diseases

Aliases & Classifications for Subvalvular Aortic Stenosis

MalaCards integrated aliases for Subvalvular Aortic Stenosis:

Name: Subvalvular Aortic Stenosis 12 73 20 6 15 17
Subaortic Stenosis 20 70
Aortic Stenosis, Subvalvular 44
Fixed Subaortic Stenosis 20

Classifications:



External Ids:

Disease Ontology 12 DOID:5805
MeSH 44 D001020
NCIt 50 C85172
SNOMED-CT 67 250915007
UMLS 70 C0340375

Summaries for Subvalvular Aortic Stenosis

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3092 Definition Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form.

MalaCards based summary : Subvalvular Aortic Stenosis, also known as subaortic stenosis, is related to discrete subaortic stenosis and left bundle branch hemiblock. An important gene associated with Subvalvular Aortic Stenosis is DSP (Desmoplakin). Affiliated tissues include heart, colon and kidney, and related phenotype is Increased CFP-tsO45G cell surface transport.

Disease Ontology : 12 An aortic valve stenosis that is characterized by a narrowing of the section of the heart under the aortic valve resulting in left ventricular outflow obstruction.

Wikipedia : 73 Canine subvalvular aortic stenosis (SAS) is an abnormal, congenital heart murmur caused by subaortic... more...

Related Diseases for Subvalvular Aortic Stenosis

Diseases related to Subvalvular Aortic Stenosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 164)
# Related Disease Score Top Affiliating Genes
1 discrete subaortic stenosis 30.8 PICALM ADAMTS19
2 left bundle branch hemiblock 30.4 TNNI3 DSP
3 heart valve disease 29.9 TNNI3 ADAMTS19
4 cardiac arrest 29.7 TNNI3 DSP
5 discrete fibromuscular subaortic stenosis 11.2
6 rare familial disorder with hypertrophic cardiomyopathy 11.1
7 congenital heart defects, hamartomas of tongue, and polysyndactyly 11.1
8 congenital heart defects, multiple types, 2 11.1
9 ventricular septal defect 10.5
10 heart septal defect 10.5
11 aortic valve insufficiency 10.5
12 atrioventricular septal defect 10.5
13 univentricular heart 10.5
14 single ventricular heart 10.5
15 dextro-looped transposition of the great arteries 10.5
16 tricuspid atresia 10.4
17 progressive familial heart block, type ia 10.4
18 lipoprotein quantitative trait locus 10.4
19 angina pectoris 10.4
20 atrial heart septal defect 10.4
21 aortic valve disease 2 10.3
22 infective endocarditis 10.3
23 pulmonary edema 10.3
24 hypertrophic cardiomyopathy 10.3
25 angiodysplasia 10.3
26 aneurysm 10.3
27 hypertelorism 10.2
28 tetralogy of fallot 10.2
29 patent ductus arteriosus 1 10.2
30 atrioventricular block 10.2
31 tuberous sclerosis 10.2
32 mitral valve stenosis 10.2
33 double outlet right ventricle 10.2
34 partial atrioventricular canal 10.2
35 ataxia and polyneuropathy, adult-onset 10.2
36 progressive familial heart block, type ib 10.2
37 hemopericardium 10.2
38 right bundle branch block 10.2
39 subacute bacterial endocarditis 10.2
40 situs inversus 10.2
41 dextrocardia 10.2
42 dextrocardia with situs inversus 10.2
43 arteries, anomalies of 10.1
44 cardiac conduction defect 10.1
45 wolff-parkinson-white syndrome 10.1
46 pericardial effusion 10.1
47 mitral valve disease 10.1
48 acute myocardial infarction 10.1
49 coarctation of aorta 10.1
50 beckwith-wiedemann syndrome 10.1

Graphical network of the top 20 diseases related to Subvalvular Aortic Stenosis:



Diseases related to Subvalvular Aortic Stenosis

Symptoms & Phenotypes for Subvalvular Aortic Stenosis

GenomeRNAi Phenotypes related to Subvalvular Aortic Stenosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased CFP-tsO45G cell surface transport GR00360-A-1 8.32 SMCO1

Drugs & Therapeutics for Subvalvular Aortic Stenosis

Search Clinical Trials , NIH Clinical Center for Subvalvular Aortic Stenosis

Cochrane evidence based reviews: aortic stenosis, subvalvular

Genetic Tests for Subvalvular Aortic Stenosis

Anatomical Context for Subvalvular Aortic Stenosis

MalaCards organs/tissues related to Subvalvular Aortic Stenosis:

40
Heart, Colon, Kidney, Tongue

Publications for Subvalvular Aortic Stenosis

Articles related to Subvalvular Aortic Stenosis:

(show top 50) (show all 1957)
# Title Authors PMID Year
1
Pseudoaneurysm of the sinus of Valsalva caused by infective endocarditis in a 7-year-old child with congenital heart disease. 61
33787476 2021
2
Unusual Presentation of Aortic Valve Infective Endocarditis in a Dog: Aorto-Cavitary Fistula, Tricuspid Valve Endocarditis, and Third-Degree Atrioventricular Block. 61
33806631 2021
3
The choice of palliative arterial switch operation as an alternative for selected cases in a single center: Experience and mid term results. 61
33694295 2021
4
Long-Term Aortic Valve Function in Patients With or Without Surgical Treatment for Discrete Subaortic Stenosis. 61
33048184 2021
5
Left heart growth and biventricular repair after hybrid palliation. 61
33547474 2021
6
Impaired left atrial stiffness in patients with corrected congenital left ventricular outflow obstructions. 61
33174642 2021
7
Computational Assessment of Valvular Dysfunction in Discrete Subaortic Stenosis: A Parametric Study. 61
33432514 2021
8
Unicuspid aortic valve repair with bicuspidization in the paediatric population. 61
33001166 2021
9
Expanding percutaneous treatment of mitral valve diseases: Transcatheter closure of mitral valve leaflet perforation. 61
33502083 2021
10
Accessory mitral valve tissue: anatomical and clinical perspectives. 61
32882373 2021
11
Mechanical Mitral Valve Replacement: A Multicenter Study of Outcomes With Use of 15- to 17-mm Prostheses. 61
32525029 2020
12
The hypoplastic left heart complex: fetal predictors of growth and surgical repair. 61
33270293 2020
13
Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum. 61
32949109 2020
14
Co-Existing Subaortic Stenosis in a Patient With Hypertrophic Obstructive Cardiomyopathy: A Rare and Interesting Finding. 61
33415043 2020
15
Serial evaluation of cardiac biomarker NT-proBNP with speckle tracking echocardiography in a 6-year-old Golden Retriever dog with subaortic stenosis and dilated cardiomyopathy. 61
32036775 2020
16
Congenital Heart Disease in Dogs: A Retrospective Study of 95 Cases. 61
33346164 2020
17
Echocardiographic diagnosis of Shone's syndrome. 61
33070402 2020
18
Early results of robotically assisted congenital cardiac surgery: analysis of 242 patients. 61
33232727 2020
19
Discrete subaortic stenosis characterized with ECG-gated cardiac CT: A case series. 61
33229303 2020
20
Palliative combined cutting and high-pressure balloon valvuloplasty in six dogs with severe, symptomatic subaortic stenosis. 61
32977126 2020
21
The variety of phenotypes behind 'double outlet right ventricle': clinical and imaging presentations in four dogs and a cat. 61
32980747 2020
22
Persistent Left Superior Vena Cava with Absent Right Superior Vena Cava and Discrete Subaortic Stenosis Diagnosed in a Patient with Sick Sinus Syndrome: A Case Report and Brief Review of the Literature. 61
33086768 2020
23
Multiple left-sided stenotic lesions: outcomes after mitral valve surgery. Arguments for abandoning the eponym 'Shone syndrome'. 61
32447390 2020
24
Hemodynamics in Adults With the Shone Complex. 61
32703525 2020
25
Right Anterior Mini-Thoracotomy for Discrete Fibromembranous Subaortic Stenosis. 61
32853081 2020
26
The Surgeon's View of the Left Ventricular Outflow Tract in Congenital Heart Surgery. 61
32853058 2020
27
Mitral Valve Replacement With the 15-mm Mechanical Valve: A 20-Year Multicenter Experience. 61
31962116 2020
28
Hemodynamic Performance of Dysfunctional Prosthetic Heart Valve with the Concomitant Presence of Subaortic Stenosis: In Silico Study. 61
32784661 2020
29
Intraoperative Diagnosis of Subaortic Stenosis in a Young Patient Scheduled for Elective Aortic Valve Replacement. 61
32845111 2020
30
An image-based computational hemodynamics study of the Systolic Anterior Motion of the mitral valve. 61
32741752 2020
31
Preoperative Factors That Predict Recurrence After Repair of Discrete Subaortic Stenosis. 61
32712099 2020
32
Discrete subaortic stenosis in an elderly woman: value of transoesophageal and 3D echocardiography. 61
32294167 2020
33
Isolated Double-Chambered Right Ventricle - A Rare Entity. 61
33447507 2020
34
ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype. 61
32323311 2020
35
Critical subaortic stenosis due to fibromuscular ridge in a 66-year-old woman: 2D-3D echocardiography findings. 61
32453473 2020
36
Unusual Ventriculo-Arterial Alignments and Connections. 61
32294014 2020
37
Surgical treatment results of secondary tunnel-like subaortic stenosis after congenital heart disease operations: A 7-year, single-center experience in 25 patients. 61
31765039 2020
38
Norwood Operation of a Neonate With Pentalogy of Cantrell. 61
31238028 2020
39
Hypertrophic cardiomyopathy and membranous subaortic stenosis: a rare, but possible association. 61
31592852 2020
40
Epidemiological study of congenital heart diseases in dogs: Prevalence, popularity, and volatility throughout twenty years of clinical practice. 61
32716943 2020
41
Subaortic Membrane and Patent Ductus Arteriosus in Rare Association-Case Series. 61
33299784 2020
42
Utility of Cervical Cannulation During Difficult Resternotomy in Congenital Heart Surgery. 61
31835977 2020
43
Reconstruction of the Neopulmonary Root After Coronary Button Harvest for Arterial Switch Operation Using 2-ply Extracellular Matrix (Tyke): A Post-Implant Histology. 61
33195455 2020
44
Discrete Left Ventricle Outflow Tract Obstruction in Children: Incidence and Predictors of Recurrence. A Multi-Center Study. 61
33299776 2020
45
Impact of Aortoseptal Angle Abnormalities and Discrete Subaortic Stenosis on Left-Ventricular Outflow Tract Hemodynamics: Preliminary Computational Assessment. 61
32175314 2020
46
Echocardiographic predictors of reoperation for subaortic stenosis in children and adults. 61
30805587 2019
47
Long-term follow-up and outcomes of discrete subaortic stenosis resection in children. 61
31516277 2019
48
Bands in the Heart: Multimodality Imaging Review. 61
31373865 2019
49
Breed does not affect the association between murmur intensity and disease severity in dogs with pulmonic or subaortic stenosis. 61
31032935 2019
50
Heyde Syndrome: Aortic Stenosis and Beyond. 61
31230737 2019

Variations for Subvalvular Aortic Stenosis

ClinVar genetic disease variations for Subvalvular Aortic Stenosis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DSP NM_004415.4(DSP):c.2550_2552dup (p.Leu851dup) Duplication Uncertain significance 180340 rs730880373 GRCh37: 6:7575640-7575641
GRCh38: 6:7575407-7575408

Expression for Subvalvular Aortic Stenosis

Search GEO for disease gene expression data for Subvalvular Aortic Stenosis.

Pathways for Subvalvular Aortic Stenosis

GO Terms for Subvalvular Aortic Stenosis

Biological processes related to Subvalvular Aortic Stenosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosomal transport GO:0016197 8.62 PICALM EHD1

Sources for Subvalvular Aortic Stenosis

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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