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  • A congenital anomaly in which the aortic valve has two leaflets. It is associated with mutations in the NOTCH1 gene or the SMAD6 gene, encoding neurogenic locus notch homolog protein 1 and mothers against decapentaplegic homolog 6, respectively. It is a clinically heterogeneous condition, with a high incidence of aortic valve and ascending aortic complications requiring surgery.
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