New fibrillin gene mutation – possible cause of ascending aortic dilation in patients with aortic valve disease: Preliminary results

摘要

BACKGROUND:Approximately 10% of patients who undergo surgery for aortic valve disease (stenosis or regurgitation) suffer from ascending aortic dilation (AAD). A possible genetic etiology of AAD associated with aortic valve disease has been repeatedly mentioned in the literature, but a specific responsible gene mutation has not been described.