CTICasesLoeys-Dietz Syndrome
Imaging findings
CT angiography in a 24-year-old patient demonstrates a dissection of the infrarenal abdominal aorta, extending into the iliac arteries. The ascending aorta is mildly dilated (4.1 cm). Additional findings include severe corkscrew tortuosity and aneurysms of both vertebral arteries.
Key takeaways
Loeys-Dietz syndrome is a rare congenital connective tissue disorder caused by mutations in TGFBR1 or TGFBR2. It is characterized by the triad of arterial tortuosity/aneurysms, hypertelorism, and bifid uvula. Unlike Marfan syndrome, dissections in Loeys-Dietz can occur at smaller aortic diameters (<4.5 cm) and frequently involve branch vessels (like the vertebral or abdominal arteries), requiring early surgical intervention.
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