Abstract:In this case report, we investigated the potential link between SMAD3/transforming growth factor β (TGF-β) pathway dysregulation and aortic valvular disease. We report a middle-aged female, heterozygous for the R18W novel variant of the SMAD3 gene, with a history of an aortic valve disorder and three aortic valve replacements in a span of 15 years. The patient neither has a history of congenital connective tissue disorders nor any known congenital valvular defects.The patient had genetic testing for thoracic a… Show more
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