CTICasesLoeys-Dietz Syndrome
Imaging findings
A 36-year-old woman with a normal chest radiograph and normal-appearing aorta on plain film is shown to have modest dilation of the ascending aorta and more pronounced dilation at the level of the sinuses on CT, measuring about 4 cm with effacement of the sinotubular junction, best seen on sagittal reformats; 3D reconstruction confirms ascending aortic dilation with sinus involvement.
Key takeaways
Despite carrying a prior diagnosis of Marfan syndrome, this patient lacked a marfanoid habitus, and genetic testing instead revealed a TGF-beta pathway mutation consistent with Loeys-Dietz syndrome, with pathology after ascending aortic replacement showing cystic medial degeneration. Loeys-Dietz is an autosomal dominant connective tissue disorder in which aneurysms can rupture or dissect at smaller diameters than in Marfan syndrome, so strong family history (this patient's mother died of a ruptured aorta at 45) and rate of growth should lower the threshold for intervention.
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