Loeys-Dietz Syndrome is a genetic disorder that affects connective tissues in the body. It is caused by mutations in specific genes, leading to various health issues, including cardiovascular problems, skeletal abnormalities, and distinctive facial features. Individuals with this syndrome may experience aortic dilation or dissection, which can be life-threatening if not monitored and treated properly.
Diagnosis typically involves a combination of clinical evaluation and genetic testing. Management of Loeys-Dietz Syndrome often includes regular monitoring of the heart and blood vessels, as well as surgical interventions when necessary. Early detection and ongoing care are crucial for improving the quality of life for those affected.