This prospective nation-wide (France) study aims to search for susceptibility genes in MVP using a genome wide analysis and comparing results obtained in 1000 patients with MVP and 1000 non-MVP subjects.

Two MVP populations will be defined in that study, either with the classical Barlow (myxomatous) disease or the fibroelastic degenerescence (thin and redundant leaflets).

MVP adult patients (> 18 year-old) will be included if they present the following 1) or 2) criteria :

1. 2D-echocardiographic mitral leaflet prolapse on the parasternal long-axis view > 2 mm AND leaflet thickness > 4 mm or mitral regurgitation > 2 + (using color Doppler)
2. Previous surgery for pure severe mitral regurgitation due to MVP with Barlow disease or fibroelastic degenerescence (with operative report available)

Patients will be excluded in case of associated heart disease (hypertrophic cardiomyopathy, rheumatismal disease…) or syndromic disease (Marfan, Ehlers-Danlos…).

Around 30 (cardiology, cardiovascular surgery) french centers will participate to this study. An e-CRF will be used to collect clinical data. A genetic core lab will collect the DNA samples. An echocardiographic core lab will collect and read all the echo recordings.

DNA analysis will be compared between the patient group and spouses of the patients used as controls. In case of inadequacies concerning group size or age, available genotyped cohorts will be used.

Inclusion criteria for MVP patients :

• Male or female subject ≥18 years

• Affiliation to the French social insurance system

• Written informed consent

• Idiopathic MVP defined by the presence of criteria 1) and 2) OR of criterion 3) :

  1. Echographic MVP > 2 mm on the left ventricular parasternal long-axis view
  2. Echographic myxomatous valve (thickness > 4 mm) or significant mitral regurgitation (> 2 + using color Doppler)
  3. History of mitral valve surgery for pure mitral regurgitation due to MVP (myxomatous or fibroelastic deficiency) with available detailed operative report.

Exclusion criteria :

• Presence of heart disease causing MVP (rheumatic, HCM…)
• Syndromic disease (Marfan, Ehlers-Danlos…)

Inclusion criteria for healthy subject :

• Male or female subject ≥40 years
• Absence of MVP or absence of mitral valve dystrophy
• Caucasian