Cardiac Valvular Dysplasia, X-linked; Cvd1

Description

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 the common severe and idiopathic mitral valve prolapse.

Clinical Features

Phenotypes and symptoms related to Cardiac Valvular Dysplasia, X-linked; Cvd1

  • Edema
  • Congestive heart failure
  • Abnormality of metabolism/homeostasis
  • Mitral valve prolapse
  • Mitral regurgitation
  • Aortic regurgitation
  • Tricuspid regurgitation
  • Short chordae tendineae of the mitral valve
  • Short chordae tendineae of the tricuspid valve

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Cardiac Valvular Dysplasia, X-linked; Cvd1 Is also known as valvular heart disease, congenital, xmvd, myxomatous valvular dystrophy, x-linked.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Cardiac Valvular Dysplasia, X-linked; Cvd1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.

By Athena Diagnostics Inc (United States).

SHH, STIL, SIX3, TUBA8, SLC25A19, DEAF1, ARFGEF2, RAB3GAP1, CENPJ, NDE1, FKRP, ARX, ASPM, POMGNT1, POMT2, TUBA1A, COL4A1, CPT2, WDR62, DCX , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
NGS XLID Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711 , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
100 %
NGS Skeletal Dysplasia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SLC26A2, SOX9, TRPV4, COL1A2, COMP, FGFR3, FLNA, HSPG2
Specificity
13 %
Genes
100 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
FLNA-related disorders.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

FLNA
Specificity
100 %
Genes
100 %
Periventricular Heterotopia, Ehlers-Danlos variant (FLNA).

By Center for Human Genetics, Inc (United States).

FLNA
Specificity
100 %
Genes
100 %
Connective Tissue Disorders 22-gene panel.

By Center for Human Genetics, Inc (United States).

TGFB2, TGFBR1, TGFBR2, TGFBR3, ACTA2, NTM, COL11A1, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, SMAD3, MYH11, MYLK, NOTCH1, PRKG1
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-FACIAL DYSMORPHISM-AGGRESSIVE BEHAVIOR SYNDROME PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES; NDMSBA

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