Genetic Test Based Risk Prediction of Early Calcific Aortic Valve Disease in Patients With Bicuspid Aortic Valve
This study is to elucidate the impact of germline mutations and clonal hematopoiesis (CHIP) on the progression of early aortic valve calcification in patients with bicuspid aortic valves. The study will be conducted over a recruitment period of one year and a follow-up observation period of two years. Considering a 2-year event rate and a 33% occurrence rate of clonal hematopoiesis, each group requires a minimum of 102 participants. Accounting for a 15% dropout rate, a total of 120 participants are needed for each group (type I error (α) = 5%, type II error (β) = 20%). Therefore, the total study population, including patients with normal aortic valve function, is set at 240 participants.
• Patients with confirmed bicuspid aortic valves based on cardiac imaging (echocardiography, CT, MRI) or surgical findings.
• Early aortic valve calcification group: Patients aged 20-80 with moderate or greater aortic valve stenosis/regurgitation.
• Normal functioning aortic valve group: Patients aged 20-80 with mild or less aortic valve stenosis/regurgitation.
• Patients who understand the purpose of the study and voluntarily consent to participate.