Congenital valvular dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: MYXOMATOUS VALVULAR DYSTROPHY, X-LINKED
VALVULAR HEART DISEASE, CONGENITAL
XMVD
CVD1
Number of Symptoms 16
OrphanetNr: 1864
OMIM Id: 314400
ICD-10: Q24.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital tricuspid malformation
 -Rare developmental defect during embryogenesis
Genetic cardiac anomaly
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001659) Aortic regurgitation 36 / 7739
2
 (HPO:0001653) Mitral regurgitation 64 / 7739
3
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
4
 (HPO:0011580) Short chordae tendineae of the mitral valve 1 / 7739
5
 (HPO:0005180) Tricuspid regurgitation 20 / 7739
6
 (HPO:0006692) Short chordae tendineae of the tricuspid valve 1 / 7739
7
 (HPO:0001635) Congestive heart failure 232 / 7739
8
 (HPO:0001634) Mitral valve prolapse 69 / 7739
9
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
10
 (OMIM) Stenotic aortic ring 1 / 7739
11
 (OMIM) Thickened valve cusps 1 / 7739
12
 (OMIM) Myxomatous cardiac valvular degeneration with secondary calcification 1 / 7739
13
 (OMIM) Irregular valve cusps 1 / 7739
14
 (OMIM) Valvular dysplasia 1 / 7739
15
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
16
 (OMIM) Short and irregular chordae 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) X-linked cardiac valvular dysplasia is a rare X-linked form of heart disease characterized by mitral and/or aortic valve regurgitation. Only males have been diagnosed as affected, while carrier females are asymptomatic. The histologic features do not differ from ...
Clinical Description OMIM Monteleone and Fagan (1969) described 6 definite and 1 probable case of congenital heart disease in males in 4 sibships of 3 generations of a black kindred in a pattern suggesting X-linked recessive inheritance. Four had mitral and ...
Molecular genetics OMIM Kyndt et al. (2007) analyzed candidate genes in the large French pedigree with X-linked cardiac valvular disease and identified a hemizygous mutation (P637Q; 300017.0030) that segregated with disease. In the British family originally studied by Newbury-Ecob et al. ...