Mitral valve prolapse (MVP) is a frequent valvular disorder with a prevalence of 2-3% in the general population, which can be associated with mitral regurgitation (MR), heart failure, ventricular arrhythmias and sudden cardiac death. Barlow's Disease (BD) and fibroelastic deficiency (FED) present the 2 most common MVP subtypes. Interestingly, recent evidence points to the existence of a concomitant cardiomyopathy in BD, regardless of MR severity. This hypothesis is supported by the recent association of MVP with mutations in cardiomyopathy genes, such as titin (TTN), suggesting a genetic predisposition for concomitant myocardial disease. Furthermore, disproportionate left ventricular (LV) remodelling in BD might also be explained by the total volume load, i.e. the sum of the transvalvular MR volume and the prolapse volume.   

We hypothesize that mechanisms of LV remodelling in BD include a larger prolapse volume and underlying genetic substrate, beyond volume overload related to MR, resulting in more severe LV remodelling and dysfunction compared to FED. 

The aim of this project is to unravel the underlying mechanisms of LV remodelling in the different MVP subtypes. We will recruit 200 patients, 100 with BD and 100 with FED, for 3D echocardiography, cardiac magnetic resonance and genetic testing. In addition, we will assess the myocardial expression of TTN and evaluate LV reverse remodelling 6 months after mitral valve surgery. 

To conclude, this project will lead to a better understanding of LV remodelling mechanisms in MVP, which is crucial to improve risk stratification, treatment and outcome in these patients.

Funding: BOF

Researcher: Pype Lobke

Promotor: Van De Heyning Caroline

Co-promotor: Van Craenenbroeck Emeline