• Yoshimasa Seike, Hitoshi Matsuda, Hatsue Ishibashi-Ueda, Hiroko Morisaki, Takayuki Morisaki, Kenji Minatoya, and Hitoshi Ogino.
• Department of Cardiovascular Surgery, Tokyo Medical University, Tokyo, Japan.
• Ann Thorac Cardiovasc Surg. 2021 Feb 20; 27 (1): 56-63.

PurposeTo identify differences in surgical outcomes between patients with transforming growth factor-beta receptor (TGFBR) 1 and TGFBR2 mutations in Loeys-Dietz syndrome (LDS).MethodsIn all, 22 LDS patients between 1998 and 2015 were divided into the two groups: TGFBR1 (n = 11) and TGFBR2 mutation (n = 11).ResultsThe freedom from aortic reoperation was similar between the two groups (p = 0.19, log-rank). In the subanalysis, the freedom from aortic reoperation was lower in female patients with TGFBR2 mutations (n = 6) than in other patients (p = 0.08). The freedom from aortic dissection (AD) after the initial surgery was also lower in female patients with TGFBR2 mutation than in other patients (p = 0.025). All patients with TGFBR2 mutations revealed grade III cystic medial necrosis (CMN), whereas 67% of patients with TGFBR1 mutations showed CMN (p = 0.033) and only one patient had grade III (p <0.001).ConclusionLDS patients with TGFBR2 mutations had higher grade of CMN than those of TGFBR1 mutations. In particular, in female patients with TGFBR2 mutations, AD after the initial surgery and reoperation were more frequent than those of other LDS patients.

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