MCID: MTR080
MIFTS: 31

Mitral Valve Prolapse 1

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Mitral Valve Prolapse 1

MalaCards integrated aliases for Mitral Valve Prolapse 1:

Name: Mitral Valve Prolapse 1 57
Mitral Valve Prolapse, Myxomatous 1 57 13
Myxomatous Mitral Valve Prolapse 1 57 73
Mitral Valve Prolapse, Familial; Mvp Prolapsed Mitral Valve; Pmv 57
Mitral Valve Prolapse, Myxomatous 1; Mmvp1 57
Mitral Valve Prolapse, Familial, X-Linked 73
Myxomatous Valvular Disease, Familial 57
Mitral Valve Prolapse, Familial 57
Mitral Regurgitation, Familial 57
Mitral Valve Prolapse Syndrome 73
Familial Mitral Valve Prolapse 59
Mvp Prolapsed Mitral Valve 57
Click-Murmur Syndrome 57
Floppy Mitral Valve 57
Barlow Syndrome 57
Mmvp1 57
Mvp1 57

Characteristics:

Orphanet epidemiological data:

59
familial mitral valve prolapse
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
mitral valve prolapse 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 157700
Orphanet 59 ORPHA741
UMLS via Orphanet 74 C0340364
ICD10 via Orphanet 34 I34.1
MedGen 42 C0026267

Summaries for Mitral Valve Prolapse 1

OMIM : 57 Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP (Freed et al., 1999; Grau et al., 2007; Delling and Vasan, 2014). Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse. Delling and Vasan (2014) reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis. (157700)

MalaCards based summary : Mitral Valve Prolapse 1, also known as mitral valve prolapse, myxomatous 1, is related to orthostatic intolerance and mitral valve prolapse, familial, x-linked, and has symptoms including angina pectoris, chest pain and edema. An important gene associated with Mitral Valve Prolapse 1 is DCHS1 (Dachsous Cadherin-Related 1). Affiliated tissues include heart, and related phenotypes are high palate and pectus excavatum

Related Diseases for Mitral Valve Prolapse 1

Diseases in the Mitral Valve Prolapse, Familial, Autosomal Dominant family:

Mitral Valve Prolapse 1 Mitral Valve Prolapse 2
Mitral Valve Prolapse 3

Diseases related to Mitral Valve Prolapse 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 orthostatic intolerance 29.9 DCHS1 MMVP1
2 mitral valve prolapse, familial, x-linked 12.3
3 mitral valve prolapse, familial, autosomal dominant 12.3
4 mass syndrome 11.0
5 mitral valve prolapse 2 10.9
6 mitral valve prolapse 3 10.9

Graphical network of the top 20 diseases related to Mitral Valve Prolapse 1:



Diseases related to Mitral Valve Prolapse 1

Symptoms & Phenotypes for Mitral Valve Prolapse 1

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
mitral valve prolapse
midsystolic, nonejection click
holo- or late-systolic mitral regurgitation murmur

Limbs:
mild dolichostenomelia

Thorax:
mild pectus excavatum

Misc:
occurs in 4 to 8% of young adults
more often in females than in males
usually benign and nonprogressive
chordal rupture, bacterial edocarditis or sudden death

Mouth:
high arched palate

Spine:
reversed usual vertebral column curves

Skin:
striae atrophica

Lab:
fibromyxomatous degeneration usual on histopathology
stretched mitral annulus


Clinical features from OMIM:

157700

Human phenotypes related to Mitral Valve Prolapse 1:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 pectus excavatum 32 HP:0000767
3 striae distensae 32 HP:0001065
4 disproportionate tall stature 32 HP:0001519
5 mitral valve prolapse 32 HP:0001634
6 mitral regurgitation 32 HP:0001653
7 high, narrow palate 32 HP:0002705
8 reversed usual vertebral column curves 32 HP:0008433

UMLS symptoms related to Mitral Valve Prolapse 1:


angina pectoris, chest pain, edema

Drugs & Therapeutics for Mitral Valve Prolapse 1

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Marfan Syndrome Withdrawn NCT01361087 Phase 3
2 Safety and Efficacy Study of a New Device for Making Neochordae in Mitral Valve Repair Unknown status NCT01811537 Phase 1, Phase 2
3 Feasibility Study of a Percutaneous Mitral Valve Repair System. Completed NCT00209339 Phase 1, Phase 2
4 V-Chordal Adjustable System for Chordal Replacement in Mitral Valve Insufficiency Due to Leaflet Prolapse Terminated NCT01415947 Phase 2
5 St. Jude Medical Percutaneous Mitral Valve Repair Study Completed NCT01500148 Phase 1
6 Exercise Capacity Evaluation in Patients With Non-rheumatic Mitral Valve Prolapse (MVP) Unknown status NCT02499419
7 Mitral Valve Prolapse (MVP) - France Study Completed NCT00799565 Not Applicable
8 Study on Safety and Performance of Medtentia Mitral Valve Repair System in Surgical Repair of Mitral Regurgitation Completed NCT01678144 Not Applicable
9 Automatic Differentiation of Innocent and Pathologic Murmurs in Pediatrics Completed NCT02512341
10 Automated Algorithm Based Analysis of Phonocardiograms of Newborns Completed NCT02105480
11 Cardiac Output Pulmonary Arterial Catheter Compared to FloWave™ 1000 Completed NCT00665301
12 EVEREST II Pivotal Study High Risk Registry (HRR) Completed NCT01940120 Not Applicable
13 NeoChord TACT Post-Market Surveillance Registry Completed NCT01784055
14 Safety and Performance Study of the NeoChord Device Completed NCT01777815 Not Applicable
15 Pivotal Study of a Percutaneous Mitral Valve Repair System Completed NCT00209274 Not Applicable
16 Myocardial Characterization of Arrhythmogenic Mitral Valve Prolapse (STAMP: STretch and Myocardial Characterization in Arrhythmogenic Mitral Valve Prolapse) Recruiting NCT02879825 Not Applicable
17 Genetic Basis of Mitral Valve Prolapse Recruiting NCT01719211
18 Prognostic Impact of the Location of Mitral Valve Prolapse on the Long-term Results of Mitral Plasty Recruiting NCT03113552
19 The Canadian Mitral Research Alliance (CAMRA) Trial CardioLink-2 Recruiting NCT02552771 Not Applicable
20 Using Pulse Counter Vigileo-Flotrac System in Transapical Off-pump Minimally Invasive Mitral Valve Repair Recruiting NCT03506217
21 Determinants of the Progression and Outcome of Mitral Regurgitation Recruiting NCT01835054
22 The Right Ventricular Responses to Mild Hypercarbia After Mitral Valve Repair Surgery Recruiting NCT02757573 Not Applicable
23 CE Mark Study for the Harpoon Medical Device in Poland Active, not recruiting NCT02771275 Not Applicable
24 CE Mark Study for the Harpoon Medical Device Active, not recruiting NCT02768870 Not Applicable
25 Safety and Early Feasibility Study of the Harpoon Medical Device Active, not recruiting NCT02432196 Not Applicable
26 Real World Expanded Multicenter Study of the MitraClip® System (REALISM) Active, not recruiting NCT01931956 Not Applicable
27 Operative Mitral Valve Reconstruction in Functional mv Insufficiency With Reduced Systolic Ventricle Function Not yet recruiting NCT03470155

Search NIH Clinical Center for Mitral Valve Prolapse 1

Genetic Tests for Mitral Valve Prolapse 1

Anatomical Context for Mitral Valve Prolapse 1

MalaCards organs/tissues related to Mitral Valve Prolapse 1:

41
Heart

Publications for Mitral Valve Prolapse 1

Articles related to Mitral Valve Prolapse 1:

# Title Authors Year
1
Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse. ( 24243761 )
2014
2
Familial mitral valve prolapse associated with short stature, characteristic face, and sudden death. ( 12707955 )
2003
3
Genetic segregation analysis of familial mitral valve prolapse shows no linkage to fibrillar collagen genes. ( 2930669 )
1989
4
Familial mitral valve prolapse and myotonic dystrophy. ( 937918 )
1976

Variations for Mitral Valve Prolapse 1

Expression for Mitral Valve Prolapse 1

Search GEO for disease gene expression data for Mitral Valve Prolapse 1.

Pathways for Mitral Valve Prolapse 1

GO Terms for Mitral Valve Prolapse 1

Sources for Mitral Valve Prolapse 1

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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