Thymoma Associated With Loeys-dietz Syndrome Type I

Abstract

Loeys-Dietz syndrome is a rare autosomal dominant disorder characterized by the involvement of cardiovascular, craniofacial and skeletal systems. The main etiology of the disease is the mutation in the transforming growth factor betareceptor type 1 and 2 genes. Today, Loeys-Dietz syndrome has been classified into two subtypes due to the presence of craniofacial involvement. These patients have progressive aortic enlargement which increases the risk of dissection and rupture. So, delay in the diagnosis may be associated with poor prognosis. We present a new case with thymoma diagnosed as Loeys-Dietz syndrome type 1. Also, this is the first report of a tumor in Loeys-Dietz syndrome according to the current literature review. (Marmara Medical Journal 2012;25:103-6)