Cilia and Valvular Heart Disease

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PROJECT SUMMARY This administrative supplement is based on the current RO1 and focuses on novel mechanisms that are contributing to fibrosis and arrythmia’s in mitral valve prolapse (MVP) patients. This supplement will focus on the consequences of a prolapsing valve on LV structure and function with a focus on regionalized LV fibrosis. Our studies will provide unique opportunities to answer questions about heart-valve diseases that heretofore have not been possible to answer. MVP is a serious clinical problem, affecting 2-3% of the human population. Its complications include congestive heart failure, endocarditis, atrial arrhythmias, and sudden death. There are no known non-surgical cures for this group of disease. The proposed work capitalizes on genetic data collected from MVP patients, which has led to uncovering novel mechanisms of valve development and disease pathogenesis. These studies hold great potential for future remedial or therapeutic insight. Our studies will additionally challenge whether current surgical guidelines for MVP should be revised.