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 Associated conditions Marfan syndrome Ehlers-Danlos syndrome polycystic kidney disease fragile X syndrome 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 Epidemiology Demographics female > male middle-aged adults mitral valve prolapse is the most frequent valvular lesion Location mitral valve 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 Differential Atrial myxoma distinguishing factor while this can also present with a systolic click, echocardiography will show mass in the atria MurmursSystolic MurmursDiastolic MurmursAortic stenosisMitral regurgitationTricuspid regurgitationAortic regurgitationMitral stenosis Diagnosis Making the diagnosis based on clinical presentation and echocardiography 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 Prognosis Progressive with age Patients are susceptible to infective endocarditis