Research Lobke Pype

Abstract

Mitral valve prolapse (MVP) is a valvular disorder with a prevalence of 2-3% in the general population. MVP can be associated with mitral regurgitation (MR), congestive heart failure, ventricular arrhythmias and sudden cardiac death. Barlow's Disease (BD) and Fibro-Elastic deficiency (FED) present the 2 most common MVP phenotypes. In recent years, several genetic mutations have been identified which might play a role in the pathophysiology of MVP, but the exact genotype-phenotype correlation remains largely unknown. Furthermore, recent evidence points to the existence of a concomitant cardiomyopathy in BD, regardless of MR severity. We hypothesise that BD and FED are determined by different genetic mutations and pathophysiological processes, which result in more severe left ventricular remodelling in BD as compared with FED. A better understanding of the genetic and phenotypic differences between BD and FED is crucial to improve patient's risk stratification, diagnostic and therapeutic management. The aim of this project is to prospectively assess the differences in genotype and phenotype between BD versus FED with a focus on left ventricular remodelling, myocardial fibrosis and arrhythmias and its evolution with or without mitral valve surgery. We will recruit 100 patients with FED and BD at 2 large volume centres (Antwerp University Hospital and Maastricht Medical University Center) for genetic analysis and an in-depth phenotyping with 3D-echocardiography and cardiovascular magnetic resonance scan.

Researcher(s)

• Promoter: Van De Heyning Caroline
• Co-promoter: Van Craenenbroeck Emeline
• Fellow: Pype Lobke

Research team(s)

• Cardiovascular diseases (CARDIOVASC)

Project type(s)

• Research Project

Abstract

Mitral valve prolapse (MVP) is a valvular disorder with a prevalence of 2-3% in the general population. MVP can be associated with mitral regurgitation (MR), congestive heart failure, ventricular arrhythmias and sudden cardiac death. Barlow's Disease (BD) and Fibro-Elastic deficiency (FED) present the 2 most common MVP phenotypes. Recently, several genetic mutations have been identified, however the exact genotype-phenotype correlation remains largely unknown. Furthermore, recent evidence points to the existence of a concomitant cardiomyopathy in BD, regardless of MR severity. We hypothesise that BD and FED are determined by different genetic mutations and pathophysiological processes, resulting in more severe left ventricular (LV) remodelling, more myocardial fibrosis and a higher arrhythmogenic risk in BD as compared with FED. The aim of this project is to prospectively assess the differences in genotype and phenotype between BD and FED with a focus on LV remodelling, myocardial fibrosis and arrhythmias and its evolution with or without mitral valve surgery. We will recruit 170 patients, 110 with FED and 60 with BD, at 2 large volume centres (Antwerp University Hospital and Maastricht Medical University Center) for genetic analysis and an in-depth phenotyping with 3D-echocardiography, cardiovascular magnetic resonance scan and 24h-Holter. Follow-up exams will be performed after 1-year in all included patients.

Researcher(s)

• Promoter: Van De Heyning Caroline
• Co-promoter: Van Craenenbroeck Emeline
• Fellow: Pype Lobke

Research team(s)

• Cardiovascular diseases (CARDIOVASC)

Project type(s)

• Research Project