MCID: LTM001
MIFTS: 26

Lutembacher's Syndrome

Categories: Cardiovascular diseases
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Aliases & Classifications for Lutembacher's Syndrome

MalaCards integrated aliases for Lutembacher's Syndrome:

Name: Lutembacher's Syndrome 11 14 16 75
Lutembacher Syndrome 11 43 71
Lutembacher's Anomaly 11

Classifications:



External Ids:

Disease Ontology 11 DOID:1998
MeSH 43 D008185
SNOMED-CT 68 204319006
UMLS 71 C0024164

Summaries for Lutembacher's Syndrome

MalaCards based summary: Lutembacher's Syndrome, also known as lutembacher syndrome, is related to mitral valve stenosis and heart septal defect. An important gene associated with Lutembacher's Syndrome is ENTPD5 (Ectonucleoside Triphosphate Diphosphohydrolase 5 (Inactive)). Affiliated tissues include heart and brain, and related phenotypes are homeostasis/metabolism and cardiovascular system

Wikipedia: 75 Lutembacher's syndrome is a very rare form of congenital heart disease that affects one of the chambers... more...

Related Diseases for Lutembacher's Syndrome

Diseases related to Lutembacher's Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 mitral valve stenosis 10.6
2 heart septal defect 10.6
3 atrial heart septal defect 10.6
4 interatrial communication 10.6
5 patent foramen ovale 10.3
6 tricuspid valve stenosis 10.2
7 pulmonary hypertension 10.2
8 situs inversus 10.2
9 dextrocardia with situs inversus 10.2
10 rheumatic heart disease 10.1
11 infective endocarditis 10.1
12 endocarditis 10.1
13 tricuspid valve insufficiency 10.1
14 mitral valve disease 10.1
15 dextrocardia 10.1
16 congestive heart failure 10.1
17 lymphangiectasia, intestinal 9.9
18 wolff-parkinson-white syndrome 9.9
19 pallister w syndrome 9.9
20 atrioventricular septal defect 9.9
21 meningioma, familial 9.9
22 aortic valve disease 2 9.9
23 aortic valve disease 3 9.9
24 cryptogenic organizing pneumonia 9.9
25 mitral valve insufficiency 9.9
26 rheumatic fever 9.9
27 bronchiolitis obliterans 9.9
28 bronchiolitis 9.9
29 subacute bacterial endocarditis 9.9
30 lymphangiectasis 9.9
31 atrial septal aneurysm 9.9
32 progressive familial heart block, type ia 9.9
33 coarctation of aorta 9.9
34 pulmonary hypertension, primary, 1 9.9
35 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.9
36 progressive familial heart block, type ib 9.9
37 progressive familial heart block 9.9
38 hydrocephalus 9.9
39 heart disease 9.9
40 pericardial effusion 9.9
41 visual epilepsy 9.9
42 right bundle branch block 9.9
43 pharyngitis 9.9
44 glycogen storage disease 9.9
45 pulmonary tuberculosis 9.9
46 heart valve disease 9.9
47 meningitis 9.9
48 children's interstitial lung disease 9.9
49 tuberculous meningitis 9.9
50 cardiogenic shock 9.9

Graphical network of the top 20 diseases related to Lutembacher's Syndrome:



Diseases related to Lutembacher's Syndrome

Symptoms & Phenotypes for Lutembacher's Syndrome

MGI Mouse Phenotypes related to Lutembacher's Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 ART1 C1GALT1 CALCRL ENTPD5 RAMP2 SOX18
2 cardiovascular system MP:0005385 9.43 C1GALT1 CALCRL ENTPD5 RAMP2 SOX18 TBX20
3 immune system MP:0005387 9.17 ART1 C1GALT1 CALCRL ENTPD5 RAMP2 SOX18

Drugs & Therapeutics for Lutembacher's Syndrome

Search Clinical Trials, NIH Clinical Center for Lutembacher's Syndrome

Cochrane evidence based reviews: lutembacher syndrome

Genetic Tests for Lutembacher's Syndrome

Anatomical Context for Lutembacher's Syndrome

Organs/tissues related to Lutembacher's Syndrome:

MalaCards : Heart, Brain

Publications for Lutembacher's Syndrome

Articles related to Lutembacher's Syndrome:

(show top 50) (show all 195)
# Title Authors PMID Year
1
Pacemaker Lead-induced Tricuspid Valve Stenosis and Reverse Lutembacher Syndrome. 62
34921816 2022
2
Lutembacher Syndrome with Sinus Venosus-Type Interatrial Communication: An Educational Presentation. 62
35436078 2022
3
Right Atrial Thrombus Presenting as Platypnea-Orthodeoxia Secondary to Reverse Lutembacher Syndrome: A Case Report. 62
35836710 2022
4
Non-surgical treatment of Lutembacher syndrome: combined percutaneous transcatheter therapy. 62
35584855 2022
5
Rapid progression of mitral stenosis after atrial septal defect closure in a Lutembacher's syndrome patient. 62
35060199 2022
6
Lutembacher syndrome presenting as heart failure in a young Nigerian at Obafemi Awolowo University Teaching Hospitals Complex (OAUTHC), Ile-Ife: a case report. 62
35909428 2022
7
Transcatheter Implantation of Interatrial Shunt Devices to Lower Left Atrial Pressure in Heart Failure. 62
36262198 2022
8
Does patent foramen ovale presence procure favourable outcomes in patients with severe rheumatic mitral stenosis? 62
34109513 2021
9
Acquired Lutembacher's Syndrome With a Continuous Murmur. 62
34430772 2021
10
Surgical Treatment of Lutembacher Syndrome with a Huge Right Atrium: A Case Report. 62
33904817 2021
11
Total surgical correction of Lutembacher syndrome associated with partial anomalous connection of the pulmonary veins and tricuspid regurgitation. 62
34548950 2021
12
An Incidental Diagnosis of Rheumatic Mitral Stenosis and Secundum Atrial Septal Defect (Lutembacher's Syndrome) in a Young Woman. 62
31781405 2019
13
Combined Percutaneous Procedure in Patient with Lutembacher Syndrome: A Case Report and Real-World Experience Review. 62
30627291 2018
14
Surgical challenge in situs inversus with dextrocardia and Lutembacher syndrome. 62
29214824 2018
15
Sinus venosus atrial septal defect with severe mitral stenosis: a rare variant of Lutembacher's syndrome. 62
33060929 2018
16
Lutembacher syndrome with mitral valve calcification in a 31-year old male. 62
29786701 2018
17
Percutaneous Transcatheter Treatment of Lutembacher Syndrome. 62
30341855 2018
18
Lutembacher syndrome: Dilemma of doing a tricuspid annuloplasty. 62
28994686 2017
19
Iatrogenic Lutembacher Syndrome after Percutaneous Mitral Commissurotomy. 62
29092127 2017
20
Lutembacher syndrome variant: Rheumatic heart disease involving all four valves and associated with an atrial septal defect in a child. 62
29545668 2017
21
Lutembacher's syndrome: Is the mitral pathology always rheumatic? 62
28228300 2017
22
Is Transoesophageal Echocardiography Necessary for the Percutaneous Management of Lutembacher Syndrome: A Case Report. 62
27891380 2016
23
Current diagnostic and treatment strategies for Lutembacher syndrome: the pivotal role of echocardiography. 62
25984452 2015
24
Successful ablation of a concealed accessory pathway mediated tachycardia in a patient with Lutembacher syndrome. 62
25295495 2014
25
Surgical correction of Lutembacher's syndrome in a patient with severe pulmonary artery hypertension. 62
24827112 2014
26
Occurrence of Lutembacher syndrome in a rural regional hospital: case report from Buea, Cameroon. 62
25009795 2014
27
Successful percutaneous management of Lutembacher syndrome. 62
24973844 2014
28
[Percutaneous mitral commissurotomy associated to sinus venosus atrial septal defect and partially anomalous pulmonary venous connection: a case report]. 62
22436630 2014
29
Transcatheter therapy for Lutembacher's syndrome: The road less travelled. 62
24701084 2014
30
Echocardiographic assessment of Lutembacher syndrome. 62
25081115 2014
31
Lutembacher's Syndrome Associated with Meningioma. 62
25478492 2013
32
Lutembacher syndrome with unroofed left superior vena cava: a diagnostic dilemma. 62
23064838 2013
33
Substantive treatment of Lutembacher's syndrome by the trans-septal puncture technique: a case report and review. 62
27326136 2013
34
Concomitant tuberculous meningitis and Lutembacher syndrome with multiple atrial septal defects and infective endocarditis. 62
23058155 2012
35
Lutembacher's syndrome. 62
22629045 2012
36
Percutaneous treatment of Lutembacher syndrome in a case with difficult mitral valve crossing. 62
22388316 2012
37
Turbulent left-to-right shunt flow through the interatrial septum suggesting high left atrial pressure in patients with heart failure with preserved ejection fraction. 62
27277178 2011
38
A rare case of situs inversus with dextrocardia, lutembacher syndrome, and pericardial effusion. 62
22567197 2011
39
Platypnea-orthodeoxia syndrome associated with bioprosthetic tricuspid valve stenosis and reverse Lutembacher syndrome. 62
21300958 2011
40
[Temporary occlusion of atrial septal defect in the Lutembacher syndrome]. 62
21893451 2011
41
Trans-catheter therapy of Lutembacher syndrome: a case report. 62
21713755 2011
42
[Percutaneous treatment of Lutembacher syndrome: a case report]. 62
20215845 2010
43
Use of the Amplatzer ASD Occluder for closing a persistent left vertical vein. 62
18791763 2009
44
Partial anomalous pulmonary venous connection associated with Lutembacher's syndrome. 62
18177387 2008
45
Transcatheter treatment of Lutembacher's syndrome. 62
18454897 2008
46
Transcatheter therapy of Lutembacher syndrome. 62
17591586 2007
47
[Percutaneous mitral commissurotomy and Lutembacher syndrome]. 62
16792032 2006
48
A successfully operated case of prosthetic valve thrombosis during planned pregnancy. 62
16572080 2006
49
Lutembacher syndrome: an ideal combination for percutaneous treatment. 62
16537037 2006
50
Transcatheter treatment of Lutembacher syndrome. 62
16336826 2005

Variations for Lutembacher's Syndrome

Expression for Lutembacher's Syndrome

Search GEO for disease gene expression data for Lutembacher's Syndrome.

Pathways for Lutembacher's Syndrome

GO Terms for Lutembacher's Syndrome

Cellular components related to Lutembacher's Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 adrenomedullin receptor complex GO:1903143 8.92 RAMP2 CALCRL

Biological processes related to Lutembacher's Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.76 SOX18 RAMP2 CALCRL C1GALT1
2 heart looping GO:0001947 9.73 TBX20 SOX18
3 heart development GO:0007507 9.72 SOX18 RAMP2 CALCRL
4 receptor internalization GO:0031623 9.67 RAMP2 CALCRL
5 outflow tract morphogenesis GO:0003151 9.58 TBX20 SOX18
6 embryonic heart tube development GO:0035050 9.43 TBX20 SOX18
7 vasculogenesis GO:0001570 9.43 TBX20 SOX18 RAMP2
8 adrenomedullin receptor signaling pathway GO:1990410 8.92 RAMP2 CALCRL

Molecular functions related to Lutembacher's Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 adrenomedullin receptor activity GO:0001605 9.26 RAMP2 CALCRL
2 adrenomedullin binding GO:1990409 8.92 RAMP2 CALCRL

Sources for Lutembacher's Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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