About Loeys-Dietz Syndrome
Loeys-Dietz syndrome is an autosomal dominant connective tissue disorder caused by dysregulation of TGF-beta signalling, resulting in aggressive aortic aneurysm and dissection, arterial tortuosity throughout the vasculature, and skeletal and craniofacial abnormalities. Compared to Marfan syndrome, LDS carries a higher risk of aortic dissection at smaller aortic diameters and at younger ages, making early surgical intervention critical. Subtypes (LDS1–6) vary in severity and specific gene involved, with TGFBR2 variants often associated with more severe vascular phenotype.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Loeys-Dietz Syndrome trials.
Cardiovascular imaging (echocardiogram and full aortic MRA/CTA with measurements) is mandatory at screening; ensure imaging is current within 6 months and includes measurement of all arterial segments.
Prior or planned aortic surgery does not automatically exclude participation but must be disclosed; confirm surgical history and current aortic dimensions with the trial team.
Genetic confirmation specifying the exact variant and LDS subtype (1–6) is required, as trials may be restricted to specific pathway genes (TGFBR1/2 vs. SMAD3 vs. SKI).
Patient Resources
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