Related Experiment Video
Updated: Nov 22, 2025
Author Spotlight: Unlocking the Mysteries of Oral Potential Malignancies
Published on: August 11, 2023
Surgical Outcome and Histological Differences between Individuals with TGFBR1 and TGFBR2 Mutations in Loeys-Dietz
Yoshimasa Seike1,2, Hitoshi Matsuda1,2, Hatsue Ishibashi-Ueda3
1Department of Cardiovascular Surgery, Tokyo Medical University, Tokyo, Japan.
Purpose:
To identify differences in surgical outcomes between patients with transforming growth factor-beta receptor (TGFBR) 1 and TGFBR2 mutations in Loeys-Dietz syndrome (LDS).
Methods:
In all, 22 LDS patients between 1998 and 2015 were divided into the two groups: TGFBR1 (n = 11) and TGFBR2 mutation (n = 11).
Results:
The 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).
Conclusion:
LDS 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.
More Related Videos
09:43Databases to Efficiently Manage Medium Sized, Low Velocity, Multidimensional Data in Tissue Engineering
Published on: November 22, 2019
09:37Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
Published on: August 25, 2021