Our latest publication @ejhg_journal on the #genetic architecture of #bicuspid aortic valve (#BAV): Only ~2% of sporadic #BAV patients carry predicted deleterious rare variants in monogenic #BAV genes, suggesting that most #BAV cases are polygenic. bit.ly/4nV9iwB

Jul 21, 2025 · 3:47 PM UTC

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Replying to @bara_doc @ejhg_journal
This study is very interesting only 2% of cases are monogenic so BAV is mostly polygenic. How will this change genetic testing strategies for patients?
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