Loeys-Dietz syndrome: Case report and review of the literature

Loeyz-Dietz syndrome (LDS) is a genetic connective tissue disorder characterized by various clinical manifestations, most notably vasculopathies and skeletal abnormalities. The disease is rare, and has multiple overlapping features with other connective tissue disorders. As such, many radiologists remain unfamiliar with the imaging and clinical findings in LDS. Here, we describe the case of a 14-year-old male without previous diagnosis of LDS who presented with aortic root aneurysm and acute type A aortic dissection. Further workup revealed numerous abnormalities, including marked tortuosity of the cervical arterial system, a bifid uvula, hypertelorism, and a superior mesenteric artery aneurysm. Genetic testing ultimately revealed a mutation in Transforming Growth Factor Beta Receptor 1.