Updated: 3/28/2020

Mitral Valve Prolapse

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Snapshot
  • A 30-year-old woman presents to her first primary care appointment. She says she experiences episodes of mild shortness of breath and palpitations; however, it does not impair her activities of daily living. She is otherwise healthy. On physical exam, a systolic murmur with a mid-systolic click is noted in the 5th intercostal space at the mid-clavicular line. Preparations are made to undergo an echocardiogram.
Introduction
  • Clinical definition
    • disease of the mitral valve characterized by superior displacement and thickening of the mitral leaflets
  • Epidemiology
    • demographics
      • female > male
      • middle-aged adults
      • mitral valve prolapse is the most frequent valvular lesion
    • location
      • mitral valve
  • Etiology
    • myxomatous degeneration
      • can be spontaneous or secondary to a connective tissue disorder
    • rheumatic fever
    • myocardial infarction
    • chordae rupture
    • idiopathic
  • Pathogenesis 
    • myxomatous degeneration of the mitral valve
      • valvular leaflets become abnormal secondary to
        • excessive degradation of collagen and elastin by proteolytic enzymes
        • accumulation of proteoglycans
      • the chordae tendinae become weakened and elongated
      • annular dilation of the mitral valve
    • connective tissue disorder
      • deficiency in collagen, elastin, and proteoglycans cause leaflets to be mostly thin and translucent
  • Associated conditions
    • Marfan syndrome
    • Ehlers-Danlos syndrome
    • polycystic kidney disease
    • fragile X syndrome
  • Prognosis
    • progressive with age
    • patients are susceptible to infective endocarditis
Presentation
  • Symptoms
    • palpitations
    • chest pain, regardless of exertion
    • shortness of breath
  • Physical exam  
    • systolic murmur 
      • high-pitched late systolic crescendo murmur
      • midsystolic click from tensing of the chordae tendinae
      • loudest over the apex
      • murmur becomes softer with squatting
      • murmur becomes louder with standing, Valsalva maneuver, and nitrate administration
Imaging
  • Echocardiography
    • indication
      • confirms the diagnosis
      • rule out other valvular abnormalities
    • findings
      • superior displacement of mitral leaflets
Studies
  • Making the diagnosis
    • based on clinical presentation and echocardiography
Differential
  • Atrial myxoma
    • distinguishing factor
      • while this can also present with a systolic click, echocardiography will show mass in the atria
Murmurs
Systolic Murmurs
Diastolic Murmurs
  • Aortic stenosis
  • Mitral regurgitation
  • Tricuspid regurgitation
  • Aortic regurgitation
  • Mitral stenosis
Treatment
  • Management approach
    • if patients do not have mitral regurgitation, treatment is typically not warranted
    • prophylaxis is not warranted for endocarditis or thromboembolism
  • Operative
    • mitral valve replacement or repair
      • indication
        • mitral valve prolapse with mitral regurgitation
Complications
  • Mitral regurgitation
  • Chorda tendinae rupture
  • Infective endocarditis

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