Surgical Outcome and Histological Differences between Individuals with TGFBR1 and TGFBR2 Mutations in Loeys-Dietz Syndrome

Yoshimasa Seike; Hitoshi Matsuda; Hatsue Ishibashi-Ueda; Hiroko Morisaki; Takayuki Morisaki; Kenji Minatoya; Hitoshi Ogino

doi:10.5761/atcs.oa.20-00223

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Surgical Outcome and Histological Differences between Individuals with TGFBR1 and TGFBR2 Mutations in Loeys-Dietz Syndrome

Yoshimasa Seike, Hitoshi Matsuda, Hatsue Ishibashi-Ueda, Hiroko Morisaki, Takayuki Morisaki, Kenji Minatoya, Hitoshi Ogino

著者情報

Yoshimasa Seike
Department of Cardiovascular Surgery, Tokyo Medical University, Tokyo, Japan
Department of Cardiovascular Surgery, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan
Hitoshi Matsuda
Department of Cardiovascular Surgery, Tokyo Medical University, Tokyo, Japan
Department of Cardiovascular Surgery, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan
Hatsue Ishibashi-Ueda
Department of Pathology, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan
Hiroko Morisaki
Department of Medical Genetics, Sakakibara Heart Institute, Fuchu, Tokyo, Japan
Takayuki Morisaki
Department of Molecular Pathology, Institute of Medical Science, the University of Tokyo, Tokyo, Japan
Kenji Minatoya
Department of Cardiovascular Surgery, Kyoto University Graduate School of Medicine, Kyoto, Kyoto, Japan
Hitoshi Ogino
Department of Cardiovascular Surgery, Tokyo Medical University, Tokyo, Japan

キーワード: Loeys-Dietz syndrome, transforming growth factor-beta receptor, cystic medial necrosis, surgical outcome

ジャーナルオープンアクセス早期公開

論文ID: oa.20-00223

DOI https://doi.org/10.5761/atcs.oa.20-00223

この記事には本公開記事があります。

The final version of this article is now available: Vol. 27 (2021), No. 1 pp. 56-63

詳細

抄録

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.

責任著者(Corresponding author)

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