2024 年 17 巻 4 号 p. 440-442
Loeys–Dietz syndrome (LDS) is a genetic connective tissue disorder associated with vascular involvement and craniofacial, skeletal, and cutaneous abnormalities. Herein, we describe the case of a 28-year-old female who presented with a pulsatile mass in her abdomen. Imaging studies revealed multiple aneurysms, including a 53-mm abdominal aortic aneurysm (AAA) and tortuosity of the intracranial arterial vasculature. Genetic testing revealed a mutation in transforming growth factor beta receptor 1, leading to a diagnosis of LDS. The patient underwent open surgical repair of AAA. Other arterial lesions were carefully followed. This case demonstrates that AAA can be a primary manifestation of LDS.
