MVP1
MCID: MTR080
MIFTS: 28

Mitral Valve Prolapse 1 (MVP1)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare 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 70
Mitral Valve Prolapse, Familial; Mvp Prolapsed Mitral Valve; Pmv 57
Mitral Valve Prolapse, Myxomatous 1; Mmvp1 57
Mitral Valve Prolapse, Familial, X-Linked 70
Myxomatous Valvular Disease, Familial 57
Mitral Valve Prolapse, Familial 57
Mitral Regurgitation, Familial 57
Mitral Valve Prolapse Syndrome 70
Familial Mitral Valve Prolapse 58
Mvp Prolapsed Mitral Valve 57
Click-Murmur Syndrome 57
Floppy Mitral Valve 57
Barlow Syndrome 57
Mmvp1 57
Mvp1 57

Characteristics:

Orphanet epidemiological data:

58
familial mitral valve prolapse
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
mitral valve prolapse 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 157700
OMIM Phenotypic Series 57 PS157700
ICD10 via Orphanet 33 I34.1
UMLS via Orphanet 71 C0340364
Orphanet 58 ORPHA741
MedGen 41 C1834819
UMLS 70 C0026267 C1834819 C2931504

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) (Updated 05-Apr-2021)

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 liver, and related phenotypes are high palate and high, narrow palate

Related Diseases for Mitral Valve Prolapse 1

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

Human phenotypes related to Mitral Valve Prolapse 1:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 high palate 31 HP:0000218
2 high, narrow palate 31 HP:0002705
3 pectus excavatum 31 HP:0000767
4 mitral valve prolapse 31 HP:0001634
5 mitral regurgitation 31 HP:0001653
6 striae distensae 31 HP:0001065
7 disproportionate tall stature 31 HP:0001519
8 reversed usual vertebral column curves 31 HP:0008433

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiac:
mitral valve prolapse
midsystolic, nonejection click
holo- or late-systolic mitral regurgitation murmur

Mouth:
high arched palate

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

Spine:
reversed usual vertebral column curves

Limbs:
mild dolichostenomelia

Skin:
striae atrophica

Lab:
fibromyxomatous degeneration usual on histopathology
stretched mitral annulus

Clinical features from OMIM®:

157700 (Updated 05-Apr-2021)

UMLS symptoms related to Mitral Valve Prolapse 1:


angina pectoris; chest pain; edema

Drugs & Therapeutics for Mitral Valve Prolapse 1

Search Clinical Trials , 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:

40
Heart, Liver

Publications for Mitral Valve Prolapse 1

Articles related to Mitral Valve Prolapse 1:

(show all 46)
# Title Authors PMID Year
1
Epidemiology and pathophysiology of mitral valve prolapse: new insights into disease progression, genetics, and molecular basis. 57
24867995 2014
2
The genetics of mitral valve prolapse. 57
17850623 2007
3
Another chromosomal locus for mitral valve prolapse: close but no cigar. 57
16186433 2005
4
Polyvalvular heart disease associated with short stature, facial anomalies, and mental retardation: an additional familial report. 57
15103728 2004
5
Familial mitral valve prolapse associated with short stature, characteristic face, and sudden death. 57
12707955 2003
6
Mapping of a first locus for autosomal dominant myxomatous mitral-valve prolapse to chromosome 16p11.2-p12.1. 57
10521289 1999
7
Toward an understanding of the cause of mitral valve prolapse. 57
10521288 1999
8
Prevalence and clinical outcome of mitral-valve prolapse. 57
10387935 1999
9
A new syndrome of familial short stature, small hands, valvular heart disease and a characteristic facies. 57
2302822 1990
10
Familial myxomatous valvular disease. 57
2705389 1989
11
Genetic segregation analysis of familial mitral valve prolapse shows no linkage to fibrillar collagen genes. 57
2930669 1989
12
Genetic evidence that mutations in the COL1A1, COL1A2, COL3A1, or COL5A2 collagen genes are not responsible for mitral valve prolapse. 57
2930668 1989
13
The association of floppy mitral valve with disjunction of the mitral annulus fibrosus. 57
3945291 1986
14
Mitral valve prolapse associated with other disorders. Casual coincidence, common link, or fundamental genetic disturbance? 57
3885977 1985
15
Inheritance of mitral valve prolapse: effect of age and sex on gene expression. 57
7149490 1982
16
Distinctive anthropometric characteristics of women with mitral valve prolapse. 57
7282740 1981
17
Family history in assessing the risk for progression of mitral valve prolapse. Report of a kindred. 57
7246493 1981
18
Mitral valve prolapse in anxiety neurosis (panic disorder). 57
7405800 1980
19
Familial stroke syndrome associated with mitral valve prolapse. 57
7369719 1980
20
A prospective study of mitral valvular prolapse in young men. 57
436482 1979
21
Prevalence of mitral valve prolapse in presumably healthy young men. 57
421301 1979
22
[Familial mitral valve prolapse and syncopes caused by ventricular tachycardia]. 57
403885 1977
23
Familial mitral valve prolapse and myotonic dystrophy. 57
937918 1976
24
Prevalence of clinical mitral-valve prolapse in 1169 young women. 57
1256525 1976
25
[Familial forms of the mid-end systolic click and murmur syndrome with deviations of left ventricular kinetics]. 57
823889 1976
26
Echocardiographic detection of mitral valve prolapse. Exclusion of false positive diagnosis and determination of inheritance. 57
1182954 1975
27
Thoracic skeletal abnormalities in idiopathic mitral valve prolapse. 57
1146695 1975
28
Radiographic appearance of the thorax in systolic click-late systolic murmur syndrome. 57
1146694 1975
29
Sudden death and the familial occurrence of mid-systolic click, late systolic murmur syndrome. 57
4751953 1973
30
Familial syndrome of midsystolic click and late systolic murmur. 57
4692656 1973
31
Arrhythmias and left ventricular asynergy in the prolapsing mitral leaflet syndrome. 57
5021490 1972
32
Prolapse of the posterior leaflet of the mitral valve occurring in eleven members of a family. 57
4240398 1969
33
The familial occurrence of the syndrome of mid-late systolic click and late systolic murmur. 57
5766802 1969
34
Posterior mitral regurgitation in girls possibly due to posterior papillary muscle dysfunction. 57
5663734 1968
35
Prolapse of the posterior leaflet of the mitral valve: chromosome studies in three sisters. 57
4951328 1968
36
Prolapse of the posterior leaflet of the mitral valve: a clinical, familial, and cineangiographic study. 57
6028260 1967
37
Aneurysmal protrusion of the posterior leaflet of the mitral valve. An auscultatory-electrocardiographic syndrome. 57
4159172 1966
38
The high familial prevalence of neurocirculatory asthenia (anxiety neurosis, effort syndrome). 57
14902758 1951
39
Detecting Underlying Cardiovascular Disease in Young Competitive Athletes. 61
27692657 2017
40
[Cardiovascular manifestations in ankylosing spondylitis. Concerning 210 cases]. 61
19216445 2008
41
Living donor liver transplantation in children with congenital heart disease. 61
17713432 2007
42
[Cardiac longitudinal study of children perinatally exposed to human immunodeficiency virus type 1]. 61
16283028 2005
43
Williams-Beuren syndrome: cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridization. 61
14666267 2003
44
[Sudden death during anesthesia: human error, drug related or cardiac death?]. 61
11878099 2001
45
Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. 61
11078559 2000
46
[Cardiovascular malformations associated with tetralogy of Fallot. Apropos of a series of 250 cases of tetralogy of Fallot]. 61
6411033 1983

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 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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