Primary Causes & Pathophysiology
Mitral valve prolapse is primarily caused by myxomatous degeneration of the valve leaflets and chordae tendineae, leading to structural weakening, excess tissue accumulation, and increased elasticity. During ventricular systole, the increased left ventricular pressure forces the weakened, redundant leaflets to bow back across the mitral annulus into the left atrium. This displacement can prevent proper leaflet coaptation, resulting in mitral regurgitation. Over time, the mechanical stress can lead to chordal elongation or rupture, exacerbating the regurgitation and causing left atrial enlargement and left ventricular volume overload.
Genetic or sporadic accumulation of dermatan sulfate and structural disruption of the spongiosa layer, leading to thickened, redundant leaflets (classic Barlow's disease).
Systemic collagen and elastin defects in conditions like Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome cause secondary myxomatous changes in the mitral apparatus.
Age-related thinning and rupture of chordae tendineae with normal or thin leaflets, typically seen in older adults (often presenting with flail leaflet rather than classic prolapse).