Interview - The complex genetic architecture of mitral valve disease

Mitral valve prolapse is a frequent disorder affecting more than 2-3 % of the adult population. Although being a sporadic disease in most cases, some patients will present with a positive familial history, a more aggressive clinical presentation including evolutive mitral valve disease, arrhythmia, annulus disjunction, systolic dysfunction (related not only to valvular disease severity but also to an associated myocardial disease), and sometimes with other clinical features like aortic aneurysms and connective tissue disorders. Deciphering the molecular heterogeneity beyond those clinical sub-groups, genetics appears to be an appropriate tool by which to identify the precise underlying condition in selected cases. This interview discusses the complex genetic architecture of mitral valve disease, and address “why, when and how” genetic testing could be considered in the clinical evaluation of mitral valve-diseased patients.