Familial mitral valve prolapse

General Information (adopted from Orphanet):

Synonyms, Signs: MYXOMATOUS MITRAL VALVE PROLAPSE 1, INCLUDED
MYXOMATOUS VALVULAR DISEASE, FAMILIAL
CLICK-MURMUR SYNDROME MITRAL VALVE PROLAPSE, MYXOMATOUS 1, INCLUDED
FLOPPY MITRAL VALVE
MITRAL REGURGITATION, FAMILIAL
BARLOW SYNDROME
PROLAPSED MITRAL VALVE
MMVP1, INCLUDED
PMV
MVP
Number of Symptoms 10
OrphanetNr: 741
OMIM Id: 157700
ICD-10: Q23.3
UMLs: C0340364
MeSH:
MedDRA:
Snomed: 233858000

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital mitral valve insufficiency and/or stenosis
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
(HPO:0000218) High palate 356 / 7739
2
(HPO:0008433) Reversed usual vertebral column curves 2 / 7739
3
(HPO:0001634) Mitral valve prolapse 69 / 7739
4
(OMIM) Midsystolic, nonejection click 2 / 7739
5
(OMIM) Fibromyxomatous degeneration usual on histopathology 2 / 7739
6
(OMIM) Mild pectus excavatum 5 / 7739
7
(OMIM) Mild dolichostenomelia 2 / 7739
8
(OMIM) Holo- or late-systolic mitral regurgitation murmur 2 / 7739
9
(OMIM) Striae atrophica 2 / 7739
10
(OMIM) Stretched mitral annulus 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mitral valve prolapse is a common disorder characterized by systolic displacement or billowing of the mitral leaflets into the left atrium, often accompanied by mitral regurgitation. MVP is genetically heterogeneous and is inherited as an autosomal dominant trait ...
Clinical Description OMIM Prolapse or buckling of one or both of the mitral leaflets into the left atrium during systole is common, occurring in 4 to 8% of young adults and more often in females than in males (Procacci et al., ...