Genetic Study of Bicuspid Aortic Valve and Family Members to Identify Gene Variants Linked to This Heart Condition

What this Trial Is About

Bicuspid aortic valve BAV is the most common congenital heart valve anomaly affecting 1-2% of the population. This condition causes the aortic valve to have two leaflets instead of three, which can restrict blood flow or cause leakage, leading to strain on the heart. BAV is linked to serious health issues and early mortality, often requiring surgical valve replacement. It tends to run in families and likely has a genetic cause, but the specific genes involved are not well understood. This study aims to identify genetic variants associated with BAV using advanced DNA sequencing techniques. It recruits patients diagnosed with BAV as well as their first-degree relatives, who may or may not have the condition. An additional group of unrelated healthy individuals with normal three-leaflet valves will be included for comparison. Participants will undergo echocardiographic screening to detect BAV and provide blood samples for genetic analysis. Participants will complete questionnaires and allow access to their medical records to collect demographic and clinical data. Blood samples will be analyzed to identify genetic variants linked to BAV by comparing those with and without the condition within families and between patient and control groups. The primary outcome is to find genetic loci associated with BAV over a 48-month period, which could improve understanding and management of this heart condition.

The BRAVE Study- The Identification of Genetic Variants Associated With Bicuspid Aortic Valve Using a Combination of Case-control and Family-based Approaches.