Cilia and Valvular Heart Disease

项目摘要 这一行政补充文件以现行的RO 1为基础，重点关注新的机制， 导致二尖瓣脱垂（MVP）患者的纤维化和心律失常。本补编将重点介绍 脱垂瓣膜对LV结构和功能的影响，重点关注局部LV纤维化。我们 研究将提供独特的机会来回答迄今为止存在的关于心脏瓣膜疾病的问题， 无法回答。 MVP是一个严重的临床问题，影响2-3%的人口。它的并发症包括充血性 心力衰竭、心内膜炎、房性心律失常和猝死。没有已知的非手术治疗方法 一组疾病。拟议的工作利用了从MVP患者收集的遗传数据，这导致了 揭示瓣膜发育和疾病发病机制的新机制。这些研究对 未来补救或治疗洞察力的潜力。我们的研究还将挑战目前的外科手术是否 MVP的指导方针应该修订。

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.