Polyvalvular heart disease syndrome

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
PHD syndrome
Number of Symptoms 36
OrphanetNr: 228410
OMIM Id: 157700
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Malformation syndrome with connective tissue involvement
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Rare syndrome with cardiac malformations
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000268) Dolichocephaly Frequent [Orphanet] 144 / 7739
2
 (HPO:0000322) Short philtrum Frequent [Orphanet] 130 / 7739
3
 (HPO:0006482) Abnormality of dental morphology Frequent [Orphanet] 81 / 7739
4
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
5
 (HPO:0000337) Broad forehead Frequent [Orphanet] 116 / 7739
6
 (HPO:0000308) Microretrognathia Frequent [Orphanet] 78 / 7739
7
 (HPO:0000276) Long face Frequent [Orphanet] 109 / 7739
8
 (HPO:0000218) High palate 356 / 7739
9
 (HPO:0005105) Abnormal nasal morphology Frequent [Orphanet] 114 / 7739
10
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
11
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
12
 (HPO:0008433) Reversed usual vertebral column curves 2 / 7739
13
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
14
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
15
 (HPO:0000767) Pectus excavatum 244 / 7739
16
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
17
 (HPO:0001519) Disproportionate tall stature 39 / 7739
18
 (HPO:0000951) Abnormality of the skin Occasional [Orphanet] 147 / 7739
19
 (HPO:0001065) Striae distensae 26 / 7739
20
 (HPO:0001702) Abnormality of the tricuspid valve Occasional [Orphanet] 32 / 7739
21
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
22
 (HPO:0001634) Mitral valve prolapse 69 / 7739
23
 (HPO:0001646) Abnormality of the aortic valve Occasional [Orphanet] 55 / 7739
24
 (HPO:0001641) Abnormality of the pulmonary valve Occasional [Orphanet] 27 / 7739
25
 (HPO:0001653) Mitral regurgitation 64 / 7739
26
 (HPO:0001633) Abnormality of the mitral valve Very frequent [Orphanet] 69 / 7739
27
 (HPO:0001695) Cardiac arrest Occasional [Orphanet] 87 / 7739
28
 (OMIM) Striae atrophica 2 / 7739
29
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
30
 (OMIM) Midsystolic, nonejection click 2 / 7739
31
 (OMIM) Mild pectus excavatum 5 / 7739
32
 (OMIM) Stretched mitral annulus 2 / 7739
33
 (OMIM) Holo- or late-systolic mitral regurgitation murmur 2 / 7739
34
 (OMIM) Mild dolichostenomelia 2 / 7739
35
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
36
 (OMIM) Fibromyxomatous degeneration usual on histopathology 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., ...