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

Table 3.

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

Clinical syndromes Genes Proteins Functions
Marfan syndrome
  • -

    FBN1
  • -

    Fibrillin-1

 Structural and non-structural functions of connective tissue
-FBN2 -Fibrillin-2
  • -

    TGFB2
  • -

    TGF-β2
Loeys-Dietz syndrome
  • -

    TGFBR1
  • -

    TGF-β receptor 1

 Excessive TGF-β signaling: SMAD2 accumulation increasing connective tissue formation
  • -

    TGFBR2
  • -

    TGF-β receptor 2
Aneurysms-osteoarthritis syndrome
  • -

    MADH3
  • -

    SMAD3

 TGF-β overexpression
Ehlers-Danlos syndrome
  • -

    COL1A2
  • -

    Collagen type I α2 chain

 Defective collagen fibers in connective tissue
Pseudoxanthoma elasticum
  • -

    ABCC6
  • -

    MRP6

 Lack of function: calcium deposits in elastic fibers
Filamin A mutation syndrome
  • -

    FLNA
  • -

    Filamin A

 Embryological development, cell migration and response to mechanical stress

TGF-β, transforming growth factor-beta.