WEDNESDAY, Aug. 23 (HealthDay News) -- Mutations in the transforming growth factor beta receptors 1 and 2 (TGFBR1 and TGFBR2), associated with the recently described autosomal dominant disease Loeys-Dietz syndrome, can cause aggressive and widespread vascular disease, according to a report in the Aug. 24 issue of the New England Journal of Medicine.
A group led by Bart Loeys, M.D., and Harry Dietz, M.D., who described the disease in 2005 and are both affiliated with Johns Hopkins University in Baltimore, performed a clinical and molecular characterization of 52 Loeys-Dietz affected families and an additional 40 patients with the closely-related Ehlers-Danlos syndrome (also called Loeys-Dietz syndrome type II).
The investigators found that all probands of Loeys-Dietz syndrome and 12 probands of Ehlers-Danlos syndrome had mutations in either TGFBR1 or TGFBR2. Six of 12 women had aggressive arterial aneurysms and pregnancy-related complications. Loeys-Dietz patients underwent cardiovascular surgery earlier than those with type II syndrome (age 16.9 versus 26.9) and died earlier (age 22.6 versus 31.8).
"Aside from reinforcing the role of TGF-beta in aortic disease, these correlations between genotype and phenotype provide a powerful clinical rationale for the proper diagnosis," writes Bruce Gelb, M.D., of the Mount Sinai School of Medicine in New York, in an accompanying editorial.
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