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What is myxomatous degeneration of mitral valve

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"mitral valve prolapse" AND myxomatous

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myxomatous mitral valve degeneration mitral valve prolapse American Heart Association

Myxomatous degeneration of the mitral valve is a structural change in which the mitral valve leaflets and their supporting cords become unusually thick, soft, and stretchy. It is not an infection or inflammation.
This can make one or both leaflets billow backward into the left upper heart chamber during contraction, called mitral valve prolapse (MVP). If the valve no longer seals tightly, blood can leak backward, known as mitral regurgitation. The American Heart Association overview describes myxomatous valve disease as a common cause of MVP.
Key points:
  • Many people have no symptoms and only need periodic follow-up.
  • It may cause a heart murmur or a characteristic mid-systolic click.
  • Possible symptoms, particularly if leakage becomes important, include palpitations, breathlessness, fatigue, or reduced exercise tolerance.
  • Less commonly, the supporting chordae can stretch or rupture, causing suddenly worse mitral regurgitation.
  • An echocardiogram evaluates leaflet shape, prolapse, severity of leakage, and heart-chamber size.
  • Treatment is usually monitoring unless regurgitation becomes severe or produces symptoms or heart effects. In that situation, mitral valve repair is often considered; replacement is sometimes needed.
The condition is often called floppy mitral valve or Barlow syndrome/disease in its more marked forms. Prognosis is generally good when there is no significant leakage, but meaningful mitral regurgitation needs cardiology follow-up. Merck Manual's clinical summary notes that regurgitation is the main complication.

Why does it occur

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"mitral valve" AND myxomatous AND pathogenesis

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myxomatous mitral valve degeneration causes genetics connective tissue disorders pathogenesis

It usually occurs because the valve’s connective-tissue framework is inherently prone to abnormal remodeling.
Normally, the mitral valve contains organized collagen for strength, elastin for recoil, and a small amount of gel-like material. In myxomatous degeneration:
  • Gel-like substances called proteoglycans accumulate in the valve.
  • Collagen and elastic fibers become disorganized and weaker.
  • The leaflets become thick, enlarged, and excessively flexible.
  • The supporting chordae tendineae may lengthen, weaken, or rupture.
That combination allows the valve to billow backward and sometimes leak.

Why the tissue remodels this way

  1. Inherited tendency: Many cases are isolated but familial, meaning genetic factors can make the valve tissue more susceptible.
  2. Connective-tissue disorders: It is more frequent in conditions such as Marfan syndrome, some Ehlers-Danlos syndromes, and Loeys-Dietz syndrome. These conditions affect proteins involved in connective-tissue strength and regulation.
  3. Abnormal cell signaling and repair: Valve cells may overproduce or inadequately break down extracellular-matrix components. Signaling involving TGF-beta is implicated in some genetic forms.
  4. Age and mechanical stress: Repeated motion and stress on an already susceptible valve can contribute to progressive stretching of leaflets and chordae over years.
For most people, it is not caused by diet, exercise, infection, or something they did wrong. It is typically a primary, often inherited or sporadic structural condition. The NCBI clinical review distinguishes isolated primary disease from forms associated with systemic connective-tissue disorders.
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