title: [Loeys-Dietz syndrome: aortic dissections and aneurysms].
abstract: BACKGROUND
  Loeys-Dietz syndrome is a connective tissue disorder accompanied by life-threatening vascular abnormalities such as aneurysms and dissections. Recognising the acute clinical picture is essential for rapid diagnosis and treatment.
  
  
  METHODS
  We describe three members of a family with a typical acute presentation of Loeys-Dietz syndrome, but without the characteristic physical abnormalities. A 40-year-old man presented with a type B aortic dissection and was treated with medication. Shortly afterwards he required emergency surgery for a ruptured aneurysm of the left common iliac artery. He subsequently developed a type A aortic dissection and progressive dilatation of his thoraco-abdominal aorta, for which surgical repair was performed. His sister and brother also presented with type B aortic dissections and both underwent surgery for thoraco-abdominal aortic aneurysms. They died at the age of 50 and 53 respectively. Clinical genetic investigation revealed a mutation of the type 2 receptor of the transforming growth factor beta (TGFβ) gene.
  
  
  CONCLUSIONS
  Loeys-Dietz syndrome is a rare hereditary condition accompanied by acute clinical symptoms. Physical characteristics of the syndrome may be absent. Timely recognition is essential for appropriate treatment and a good prognosis.
authors.affiliation: VUmc, Amsterdam.
authors.forename: Ernst
authors.initials: E
authors.lastname: Cancrinus
authors.forename: Arjan W J
authors.initials: AW
authors.lastname: Hoksbergen
authors.forename: Gerard J
authors.initials: GJ
authors.lastname: Pals
authors.forename: Willem
authors.initials: W
authors.lastname: Wisselink
authors.forename: Kak Khee
authors.initials: KK
authors.lastname: Yeung
mesh_terms: D000328:Adult; D000784:Aortic Dissection / Q000209:etiology* / Q000601:surgery; D001014:Aortic Aneurysm / Q000209:etiology* / Q000601:surgery; D057510:Endovascular Procedures; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D008297:Male; D008875:Middle Aged; D009154:Mutation