Loeys–Dietz syndrome (LDS), a newly recognized connective tissue disorder, shares overlapping features with Marfan syndrome (MFS) and the vascular type of Ehlers–Danlos syndrome (EDS), including aortic root dilatation and skin abnormalities.
Synonyms and Related Disorders
Loeys-Dietz aortic aneurysm syndrome; TGFBR1-related Loeys-Dietz syndrome; TGFBR2-related Loeys-Dietz syndrome
Genetics/Basic Defects
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An autosomal dominantly inherited disorder of connective tissue
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Caused by heterozygous mutations in the gene encoding type I or II transforming growth factor beta (TGF-β) receptor
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An altered signaling of the TGF-β cytokine family
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Plays an important role in cell proliferation and differentiation, apoptosis and extracellular matrix formation, underling both LDS and MFS
- b.
Causes disarrayed elastic fibers and loss of elastin content in the aortic media, predisposing to dilatation and dissection of the aortic wall
- c.
Disruption of the normal TGF-β signaling takes place at the...
- a.
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References
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(2012). Loeys–Dietz Syndrome. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_149
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DOI: https://doi.org/10.1007/978-1-4614-1037-9_149
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