Since Loeys-Dietz syndrome is a genetic disorder, people are born with it. Since the syndrome is rare, it is not known how often it occurs or who is more likely to inherit it. Research has determined that the gene mutations in Loeys-Dietz syndrome interfere with the action of the transforming growth factor beta (TGF-beta) protein in the growth, movement, and activity of cells.
Symptoms
The symptoms of Loeys-Dietz syndrome are:
- aortic aneurysms (weakened areas of the aorta) which may burst
- convoluted arteries (tortuosity) in other parts of the body
- widely-spaced eyes (hypertelorism)
- cleft palate or split uvula (tissue that hangs down in the back of the throat)
- children may have their skull bones close up (fuse) earlier than normal (craniosynostosis)
Diagnosis
Children may be diagnosed with Loeys-Dietz syndrome based on their facial features, or if they have an aortic aneurysm, which is usually diagnosed by an ultrasound of the heart (echocardiogram). In addition, a computed tomography (CT) scan or magnetic resonance imaging (MRI) may be done. A test for the specific genetic mutations present in the syndrome can be done at specialized genetics laboratories.
Treatment
Because individuals with Loeys-Dietz are at high risk for rupturing the aorta, early diagnosis and treatment of aortic aneurysm is critical. Surgical repair of the weakened area of the aorta is usually successful.
Sources:
- Cortez, Michelle. "Warning raised on genetic disorder." The Boston Globe 24 Aug 2006.
- Loeys, Bart, et al. "Aneurysm syndromes caused by mutations in the TGF-beta receptor." New England Journal of Medicine 8(2006): 788-798.
- Stoppler, Melissa. "Loeys-Dietz Syndrome." Diseases & Conditions. 20 Sep 2006. MedicineNet.com. 24 Jan 2007 <http://www.medicinenet.com/loeys-dietz_syndrome/article.htm>.
