A familial case of aortic dilatation with p.Tyr470Cys in TGFBR2 in which the phenotype included only vascular lesions

Hidenori Yamamoto; Ayako Tanabe; Taichi Kato

doi:10.1017/S104795112402585X

A familial case of aortic dilatation with p.Tyr470Cys in TGFBR2 in which the phenotype included only vascular lesions

Cardiol Young. 2024 Oct 4:1-3. doi: 10.1017/S104795112402585X. Online ahead of print.

Authors

Hidenori Yamamoto^{1

2}, Ayako Tanabe³, Taichi Kato¹

Affiliations

¹ Department of Pediatric Cardiology, Children's Heart Center, Nagoya University Hospital, Nagoya, Japan.
² Department of Pediatrics, TOYOTA Memorial Hospital, Toyota, Japan.
³ Department of Medical Genetics, TOYOTA Memorial Hospital, Toyota, Japan.

PMID: 39364546
DOI: 10.1017/S104795112402585X

Abstract

Hereditary connective tissue diseases have different risks of aortic dissection depending on the causative gene. We report a family with no extravascular phenotype and a clinical diagnosis of familial thoracic aortic aneurysm and dissection, but genetic testing confirmed p.Tyr470Cys in TGFBR2, which is typically the responsible gene for Loeys-Dietz syndrome. Validation of the clinical diagnosis by genetic testing is warranted.

Keywords: Hereditary connective tissue diseases; Loeys–Dietz syndrome; Marfan syndrome; TGFBR2; familial thoracic aortic aneurysm and dissection.