Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology

This study presents the first, large-scale exome-based analysis in patients with (familial) mitral valve prolapse (MVP). We confirmed the occurrence of variant(s) in previously reported genes and proposed possible novel candidate genes for MVP, mostly cardiomyopathy genes. Our findings support familial screening in MVP patients in order to eventually identify affected relatives at an early stage of the disease. In addition, the observed association between cardiomyopathy genes and MVP highlights the importance to screen these patients and their family for the presence of arrhythmias and disproportionate left ventricular remodeling as compared to the severity of mitral regurgitation, unraveling a possible coexistent cardiomyopathy. (By Dr. Aniek van Wijngaarden, https://jmg.bmj.com/content/early/2020/04/09/jmedgenet-2019-106715 )

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