Baraitser-Winter syndrome is a very rare genetic disorder caused by cytoplasmic actin-encoding genes defects. Although most patients have similar phenotype, concomitant cardiac anomalies widely vary. In addition to well-described congenital heart diseases, aortic aneurysms occur due to underlying actin gene mutation in these patients in the further years. Herein, we present a 26-year-old male case who underwent Bentall procedure with the diagnosis of new-onset aortic valve regurgitation and an ascending aorta aneurysm.
Keywords: Adulthood; Baraitser-Winter syndrome; Bentall procedure; ascending aortic aneurysm.
Copyright © 2018, Turkish Society of Cardiovascular Surgery.