Yan Li*, Qian Chang, Xiangyang Qian, Xiaogang Sun and Mingyao Luo
Department of Cardiovascular Surgery, National Center for Cardiovascular Diseases and Fuwai Hospital, ChinaFulltext PDF
Loeys-Dietz syndrome (LDS) is a recently recognized genetic aortic aneurysm syndrome characterized by the triad of hypertelorism, bifid uvula or cleft palate, and generalized arterial tortuosity with aneurysms and dissections throughout the arterial tree with a high risk of earlyonset aortic dissection but with no known myocardial involvement . We report a child who was diagnosed as acute type A aortic dissection, a novel transforming growth factor beta (TGFβ) receptor type I (TGFBR1) mutation, and impaired systolic function after urgent surgical repair.
LDS: Loeys-dietz Syndrome; TGFβ: Transforming Growth Factor β; TGFBR1: TGF Beta-receptor Type I; LVEF: Left Ventricular Ejection Fraction
Li Y, Chang Q, Qian X, Sun X, Luo M. Type a Aortic Dissection and Impaired Systolic Function in a Child with Loeys- Dietz Syndrome. Clin Surg. 2017; 2: 1329.