Genetic Problems, Diagnosis, and Cardiovascular Manifestations of Loeys-Dietz Syndrome.

Abstract excerpt

Loeys-Dietz Syndrome (LDS) is an autosomal dominant connective tissue disorder with multisystem involvement of wide spectrum, found to be associated with transforming growth factor-β pathway. LDS is characterized by craniofacial, skeletal, cutaneous, vascular abnormalities along with aortic aneurysm and aortic dissection contributing to mortality and morbidity at a young age. Therefore, timely diagnosis and...

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