Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate cardiac development, are linked to nonsyndromic bicuspid aortic valve disease.

Bicuspid aortic valve disease, where the aortic valve has two leaflets instead of the normal three, is the most common congenital heart defect, affecting up to 2% of the population.

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Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate cardiac development, are linked to nonsyndromic bicuspid aortic valve disease, ...