Description:
Abstract Background Filamin-A mitral valve prolapse/dystrophy (FLNA-MVP) phenotype associates MVP and a paradoxical restricted motion in diastole. Purpose We aim to assess the association of mitral valve prolapse to restricted motion in diastole in MVP patients (restricted MVP). Methods We prospectively enrolled 475 MVP probands (64±13 years) and controls relatives. Patients underwent a clinical examination and a comprehensive echocardiographic analysis of mitral valve apparatus. Results Among 475 consecutive probands, 48 (10.1%, 95% CI 7.7–13.3) had both a MVP and a doming aspect in diastole. Patients with restricted MVP exhibited shorted chordae tendinaes, and a shorter distance between papillary muscle tip and mitral annulus. Compared with controls, mitral valve leaflets were lenghtened, thickened and mitral valve annulus was enlarged. The prevalence of polyvalvular disease and bicuspid aortic valve was not increased in restricted MVP patients compared with conventional MVP. Familial form of restricted MVP was identified even in the absence of Filamin-A mutation. Conclusion Restricted MVP is a quite frequent finding in MVP patients and is associated with unique features of the MV apparatus. Restricted MVP can be regarded as a third type of MVP beside myxomatous Barlow disease and fibro-elastic deficiency MVP. Acknowledgement/Funding PHRC I Mitral, Fédération Française de Cardiologie, Fondation Coeur et recherche