Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve

What is it about?

Bicuspid aortic valves (BAV) are the most common cause of congenital heart disease, occurring in 1 in 100 people on average. We scanned genome data from thousands of participants with BAV to identify specific types of gene variants that do not usually occur in healthy people but can cause BAV. We found several rare changes in the chromosomes of people with BAV who developed complications at when they were young (in their 20s) that required surgery or hospitalization.

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Why is it important?

Most people with BAV live fairly normal lives and never need surgery. We are optimistic that specific genetic changes can predict which patients with BAV may develop more serious problems. Right now, we generally treat millions of people with BAV the same. With this genetic information, we may be able to target treatments to the group that needs it most, reducing costs and making care more efficient. We may also be able to spot problems earlier in vulnerable patients and improve their care.