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. 2023 Jun 2;10:1128195. doi: 10.3389/fcvm.2023.1128195

Table 2.

Summary of main genetic and molecular pathway alterations associated with non-syndromic mitral valve prolapse.

Occurrence Genes Proteins Function
Familial Autosomal dominant
  • - 

    MMVP1

 – –
  • - 

    MMVP2

 – –
  • - 

    MMVP3

 – –
  • - 

    DCHS1
  • - 

    Protein dachsous homolog 1
  • - 

    Cadherin: cell-to-cell adhesion for tissue morphogenesis and homeostasis
X-linked
  • - 

    FLNA
  • - 

    Filamin A
  • - 

    MAPK3 and MAP2K1 activation for mitral valve tissue proliferation
Sporadic
  • - 

    DCHS1
  • - 

    Protein dachsous homolog 1
  • - 

    Cadherin: cell-to-cell adhesion for tissue morphogenesis and homeostasis
  • - 

    DZIP1
  • - 

    DAZ interacting Zinc finger protein
  • - 

    Cilium assembly
  • - 

    FLNC
  • - 

    Filamin C
  • - 

    Cell-to-cell adhesion
  • - 

    MMP-3
  • - 

    Matrix metalloproteinase-3
  • - 

    ECM remodeling
  • - 

    FBN1
  • - 

    Fibrillin-1
  • - 

    Decrease binding of TGF-β binding proteins
  • - 

    COL3A1
  • - 

    Collagen type III α1 chain
  • - 

    ECM structural protein for tissue resistance
  • - 

    LIM
  • - 

    Protein interaction domain
  • - 

    Cell migration regulation
  • - 

    LMCD1
  • - 

    LIM and cysteine-rich domains protein
  • - 

    Cell migration regulation
  • - 

    TNS1
  • - 

    Tensin 1
  • - 

    Cell adhesion control
  • - 

    GLIS1

 - Glis family Zinc finger 1
  • - 

    Transcription factor involved in cell reprogramming and proliferation
  • - 

    LTBP2
  • - 

    Latent TGF-b binding protein 2
  • - 

    ECM protein
  • - 

    TGFB2
  • - 

    TGF-b 2
  • - 

    ECM protein
  • - 

    ALPK3
  • - 

    Alpha kinase 3
  • - 

    Myocyte hypertrophy

ECM, extracellular matrix; TGF-β, transforming growth factor-beta.