Annuloaortic ectasia in a 16 year-old boy with Loeys-Dietz syndrome.
Loeys-Dietz syndrome (LDS) is a rare genetic disorder with an autosomal dominant inheritance due to mutations in the transforming growth factor beta-receptor type 1 or type 2. The disease is characterised by the triad of hypertelorism, bifid uvula or cleft palate, arterial tortuosity and aortic aneurysms. These phenotypic characteristics distinguish LDS from other connective tissue disorders related to transforming growth factor beta-receptor. Patients with LDS have a high risk of aortic dissection or rupture at a younger age and smaller aortic diameters. So, clinical suspicion of LDS followed by genotyping is important to prevent aortic dissection, leading cause of death, by surgical treatment.
Division of Cardiology, Cardiac and Vascular Center, Department of Medicine, Sungkyunkwan University Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon-Si, Republic of Korea.
Bong Oh
BO
Ma
Bong Gun
BG
Song
Hae Jin
HJ
Yang
Gi Jung
GJ
Jeon
Jae Un
JU
Lee
Tae Hun
TH
Kim
Gu Hyun
GH
Kang
Yong Hwan
YH
Park
Woo Jung
WJ
Chun
Ju Hyun
JH
Oh
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001011:Aorta / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery; D001027:Aortography; D004108:Dilatation, Pathologic / Q000151:congenital / Q000000981:diagnostic imaging / Q000601:surgery; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000235:genetics* / Q000601:surgery; D008297:Male; D020125:Mutation, Missense; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D014463:Ultrasonography
D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II