Mitral valve prolapse (MVP) is a common heart valve disease that affects 2%-3% of the general population. It can be manifested as mitral valve regurgitation and is the main indication for mitral valve surgery. MVP includes two forms of syndrome and non-syndrome. Syndromic MVP is associated with connective tissue diseases, such as Marfan syndrome. Non-syndromic MVP includes diffuse myxomatous mitral valve disease or Barlow’s disease and fibroelastic deficiency. MVP is a common disease in which late systolic clicks or mitral valve leaflets shift upward into the left atrium during ventricular systole, with or without mitral regurgitation. Echocardiography defines MVP as the prolapse of one or two leaflets of the mitral valve into the left atrium during systole, exceeding the level of the annulus line by more than 2 mm. In recent years, the development of genomics and imaging technology has enabled us to better understand the pathogenesis of MVP and provide possibilities for further prevention and treatment. This article reviews the research progress of MVP in epidemiology, etiology, histopathology, diagnosis and genetics.