Genetic testing for predicting early aortic valve disease in patients with bicuspid aortic valves

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

This study is testing how genetic factors might affect the early development of aortic valve disease in people with bicuspid aortic valves.

Quick facts

• Study type: Observational
• Enrollment: 240 (estimated)
• Ages: 19 Years to 80 Years
• Sex: All
• Sponsor: Yonsei University (Academic / other)
• Locations: 1 site (Seoul)
• Trial ID: NCT06153407 on ClinicalTrials.gov

What this trial studies

This observational study aims to investigate how genetic mutations and clonal hematopoiesis affect the progression of early calcification in aortic valves among patients with bicuspid aortic valves. Over a recruitment period of one year, the study will enroll 240 participants, including those with both early aortic valve calcification and normal valve function. Participants will be followed for two years to assess the impact of these genetic factors on valve disease progression. The study will utilize cardiac imaging techniques to confirm the presence of bicuspid aortic valves and measure the severity of aortic stenosis or regurgitation.

Who should consider this trial

Good fit: Ideal candidates include patients aged 20-80 with confirmed bicuspid aortic valves and varying degrees of aortic valve stenosis or regurgitation.

Not a fit: Patients with malignant neoplastic diseases, severe chronic kidney disease, or other inherited cardiac conditions may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved risk prediction and management strategies for patients with bicuspid aortic valves.

How similar studies have performed: While the specific approach of this study may be novel, similar studies investigating genetic factors in valve disease have shown promising results.

Eligibility criteria

Inclusion Criteria:

1. Patients with confirmed bicuspid aortic valves based on cardiac imaging (echocardiography, CT, MRI) or surgical findings.
2. Early aortic valve calcification group: Patients aged 20-80 with moderate or greater aortic valve stenosis/regurgitation.
3. Normal functioning aortic valve group: Patients aged 20-80 with mild or less aortic valve stenosis/regurgitation.
4. Patients who understand the purpose of the study and voluntarily consent to participate.

Exclusion Criteria:

1. Patients with malignant neoplastic diseases or other conditions, such as cerebrovascular accidents, which predict survival of less than 6 months.
2. Patients with unclear presence of bicuspid aortic valves.
3. Patients with stage 3 or higher chronic kidney disease.
4. Patients with other inherited cardiac conditions.
5. Patients with cognitive impairment or hemodynamically unstable patients who have difficulty understanding the study content.

Where this trial is running

Seoul

• Division of Cardiology, Yonsei University Health System, Yonsei University College of Medicine — Seoul, South Korea (Recruiting)

Study contacts

• Principal investigator: Iksung Cho — Division of Cardiology, Severance Cardiovascular Hospital, Yonsei University College of Medicine
• Study coordinator: Iksung Cho

Conditions Bicuspid Aortic Valve