Imaging Findings in a Child With Loeys-Dietz Syndrome

Abstract

A 3-year-old boy being followed up for bilateral club foot underwent a routine thorax radiography that revealed aortic arch enlargement. Echocardiography showed sinus of Valsalva dilatation. Because of clinical features such as hypertelorism, bifid uvula, and prominent forehead, a genetic investigation was conducted that confirmed Loeys-Dietz syndrome (LDS) by identifying a heterozygous mutation in the gene encoding transforming growth factor-β receptor type 2 (TGFBR2). Whole-body magnetic resonance angiography was performed on a 1.5T machine. The magnetic resonance protocol included 3-dimensional contrast-enhanced angiographic sequences of the body and time-of-flight sequences of the brain. Whole-body magnetic resonance imaging demonstrated typical cardiovascular findings: Dilatation of the aorta at the level of sinus of Valsalva; tortuosity of the aortic arch, the 2 internal carotid arteries, the 2 vertebral arteries, and left subclavian artery; …