What is Loeys-Dietz syndrome?
Loeys-Dietz syndrome (LDS) was identified in 2005 and it affects people of all ethnic backgrounds, both female and male. LDS is caused by a mutation in the transforming growth factor beta receptor 1 and 2 (TGFBR1 & TGFBR2), and those with a transforming growth factor beta 2 ligand (TGFB2) mutation a portion of the matrix that comprises connective tissue which is found throughout the body. LDS most often occurs as an autosomal dominant inheritance, however, sporadic random mutations occur occasionally, with no parental cause.
LDS has some overlapping features similar to Marfan syndrome, however there are some features that present only in LDS individuals and there are many variable features depending upon the type of LDS.
Some individuals with LDS present with a higher risk of aortic dissection at smaller measurements than those in the Marfan population.
An early and definitive diagnosis of LDS is imperative to the medical management of this type of connective tissue disorder.