Is Mitral Valve Prolapse a Congenital or Acquired Disease?

Epidemiology and Pathophysiology of Mitral Valve Prolapse

“…These findings differed from older studies based on M-mode diagnostic criteria and/or observations of pedigrees 12, 13 that reported that MVP preferentially afflicted women and older individuals. Although the genetic predisposition to develop MVP may be present at birth, MVP is not found in newborns, 44 and its prevalence is low among children (0.3%), 45 and young adults (0.6%). 46 These findings suggest that MVP is a progressive disease affecting predominantly middle-aged individuals.…”

Genetic Basis of Familial Valvular Heart Disease

“…12 Although the pathological features of MVP are well known, the precise cellular and molecular mechanisms that contribute to the development of MVP are less clear. Isolated MVP is absent in newborn babies, 30 suggesting that it may develop from a combination of genetic variation with age-dependent penetrance, postnatal disruption of cellular signaling, and environmental factors, including repetitive mechanical stress from normal physiological wear and tear ( Figure 1). 27,31 It is postulated that hemodynamic shear stress and impact-induced damage to the superficial lining layer of valvular endothelial cells leads to the release of proinflammatory cytokines, such as TGF-β and vasoactive substance; eg, endothelin-1 and prostanoids.…”

Autonomic dysregulation as a novel underlying cause of mitral valve prolapse: A hypothesis

“…In addition, female sex was found to be a notable predominance by the Framingham Study, especially among young women [20] who were prone to dysautonomias. Mitral valve prolapse is absent from echocardiographs in newborns [21], and an autosomal dominant mode did not express, even in members of the same family, suggesting that clinical presentation of patients with MVP might exhibit complex interactions with environmental factors. Hence, it is hypothesized that autonomic dysregulation may be a key determinant in the origin and progression of mitral valve prolapse.…”