Loeys-Dietz syndrome is a genetic disorder that is caused by a mutation (gene change) in either the TGFBR1 or TGFBR2 genes (transforming growth factor beta receptor 1 or 2). These genes encode the receptors for a molecule that plays a role in extracellular signaling. A wide variety of mutations have been identified in both genes, however, there is no significant correlation between the specific mutation, the location of the mutation, or the gene that the mutation is in and clinical presentation.
The term genetic disorder also indicates that the disorder has been present in an individual since conception. Loeys-Dietz syndrome exhibits an autosomal dominant inheritance pattern, which means that when an individual has been diagnosed with LDS, each of their offspring (regardless of number and/or sex of offspring) has a 50% chance of inheriting the gene mutation for LDS. There is no way to predict the severity of vascular, skeletal or skin findings that may occur in an offspring.
Many individuals are the first in their family to have the mutation causing LDS. These cases are caused by sporadic (random) mutations that occur during conception. There is no parental cause (medication or alcohol use for example) for the random mutation occurring. It is no one's fault.
For anyone who has the diagnosis of LDS and who is of reproductive age, it is recommended that they review the recurrence risk information with a genetics professional. There are testing options performed during pregnancy (prenatal diagnosis) and through in-vitro techniques (pre-implantation genetic diagnosis) if a couple would wish to know if their offspring has the LDS mutation identified in a parent.
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