Our experience on Bentall procedure in an adult patient with Baraitser-Winter syndrome
Articles > Article · 2018
Authors: GÖKMEN AKKAYA, ÇAĞATAY BİLEN, Osman Nuri TUNCER, MEHMET FATİH AYIK, Yüksel ATAY
TURK GOGUS KALP DAMAR CERRAHISI DERGISI-TURKISH JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY, Journal Indexed in SCI Expanded, International, 2018, vol 26, pp 639-641
DOI: 10.5606/tgkdc.dergisi.2018.15758
Summary
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.