title: Severe aortic and arterial aneurysms associated with a TGFBR2 mutation.
abstract: BACKGROUND
  A 24-year-old man presented with previously diagnosed Marfan's syndrome. Since the age of 9 years, he had undergone eight cardiovascular procedures to treat rapidly progressive aneurysms, dissection and tortuous vascular disease involving the aortic root and arch, the thoracoabdominal aorta, and brachiocephalic, vertebral, internal thoracic and superior mesenteric arteries. Throughout this extensive series of cardiovascular surgical repairs, he recovered without stroke, paraplegia or renal impairment.
  
  
  METHODS
  CT scans, arteriogram, genetic mutation screening of transforming growth factor beta receptors 1 and 2.
  
  
  METHODS
  Diffuse and rapidly progressing vascular disease in a patient who met the diagnostic criteria for Marfan's syndrome, but was later rediagnosed with Loeys-Dietz syndrome. Genetic testing also revealed a de novo mutation in transforming growth factor beta receptor 2.
  
  
  RESULTS
  Regular cardiovascular surveillance for aneurysms and dissections, and aggressive surgical treatment of vascular disease.
authors.affiliation: Division of Cardiothoracic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: Scott A
authors.initials: SA
authors.lastname: LeMaire
authors.forename: Hariyadarshi
authors.initials: H
authors.lastname: Pannu
authors.forename: Van
authors.initials: V
authors.lastname: Tran-Fadulu
authors.forename: Stacey A
authors.initials: SA
authors.lastname: Carter
authors.forename: Joseph S
authors.initials: JS
authors.lastname: Coselli
authors.forename: Dianna M
authors.initials: DM
authors.lastname: Milewicz
mesh_terms: D000328:Adult; D000783:Aneurysm / Q000000981:diagnostic imaging / Q000235:genetics*; D000792:Angiography; D017544:Aortic Aneurysm, Abdominal / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D017545:Aortic Aneurysm, Thoracic / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D016122:Brachiocephalic Trunk; D004247:DNA / Q000235:genetics; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D008323:Mammary Arteries; D017538:Mesenteric Artery, Superior; D009154:Mutation; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014711:Vertebral Artery
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D004247:DNA; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II