Author/Authors :
ALP, Hayrullah Necmettin Erbakan University - Meram School of Medicine - Department of Child Health and Pediatrics, Sub-Department of Pediatric Cardiology, Turkey , ŞAP, Fatih Necmettin Erbakan University - Meram School of Medicine - Sub-Department of Pediatric Cardiology, Turkey , ALTIN, Hakan Necmettin Erbakan University - Meram School of Medicine - Sub-Department of Pediatric Cardiology, Turkey , KARATAŞ, Zehra Necmettin Erbakan University - Meram School of Medicine - Sub-Department of Pediatric Cardiology, Turkey , BAYSAL, Tamer Necmettin Erbakan University - Meram School of Medicine - Sub-Department of Pediatric Cardiology, Turkey , KARAASLAN, Sevim Necmettin Erbakan Universit - Meram School of Medicine - Sub-Department of Pediatric Cardiology, Turkey , PEKCAN, Sevgi Necmettin Erbakan University - Meram School of Medicine - Department of Child Health and Pediatrics, Sub-Department of Pediatric Pulmonology, Turkey
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.
NaturalLanguageKeyword :
Loeys , Dietz syndrome , Thymoma , Aortic root aneurysm , Aortic dilatation
