Study of Genetic Risk Factors for Early Calcific Aortic Valve Disease in Adults with Bicuspid Aortic Valve

What this Trial Is About

Researchers are studying how genetic mutations and clonal hematopoiesis CHIP affect the early development of calcification in the aortic valve among patients with bicuspid aortic valves. This observational study aims to understand the progression of early aortic valve calcification by monitoring a total of 240 participants, including those with normal and abnormal valve function. The study is sponsored by Yonsei University and involves a recruitment period of one year followed by two years of follow-up observation. Participants will be divided into groups based on their valve function those with moderate or greater aortic valve stenosis or regurgitation and those with mild or less valve dysfunction. The study does not involve any treatment but focuses on genetic testing and monitoring of valve changes. The total sample includes patients aged between 20 and 80 years, with careful attention to the presence of germline mutations and CHIP mutations over the two-year follow-up. During the study, participants will undergo cardiac imaging and genetic assessments to identify mutations and track the progression of valve calcification. Researchers will observe the presence of germline and CHIP mutations as the primary outcomes, and the progression of aortic valve calcification as a secondary outcome over two years. The study also includes ongoing safety monitoring and data collection to understand the genetic risk factors impacting valve disease progression.

Genetic Test Based Risk Prediction of Early Calcific Aortic Valve Disease in Patients With Bicuspid Aortic Valve