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

• DOI: 10.1017/s104795112402585x
• Publication Date: 2024-10-04T08:13:31Z
• Authors: Hidenori Yamamoto; Ayako Tanabe; Taichi Kato
• Keywords: Thoracic aortic aneurysm; Fibrillin

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 clinical diagnosis familial thoracic aneurysm dissection, but genetic testing confirmed p.Tyr470Cys in TGFBR2 , which is typically responsible gene for Loeys–Dietz syndrome. Validation by warranted.