Our experience on Bentall procedure in an adult patient with Baraitser-Winter syndrome
Makaleler > Tam Makale · 2018
Yazarlar: 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, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2018, cilt 26, ss 639-641
DOI: 10.5606/tgkdc.dergisi.2018.15758
Özet
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.