Severe aortic and arterial aneurysms associated with a TGFBR2 mutation

Nat Clin Pract Cardiovasc Med. 2007 Mar;4(3):167-71. doi: 10.1038/ncpcardio0797.


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.

Investigations: CT scans, arteriogram, genetic mutation screening of transforming growth factor beta receptors 1 and 2.

Diagnosis: 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.

Management: Regular cardiovascular surveillance for aneurysms and dissections, and aggressive surgical treatment of vascular disease.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aneurysm / diagnostic imaging
  • Aneurysm / genetics*
  • Angiography
  • Aortic Aneurysm, Abdominal / complications
  • Aortic Aneurysm, Abdominal / diagnostic imaging
  • Aortic Aneurysm, Abdominal / genetics
  • Aortic Aneurysm, Thoracic / complications
  • Aortic Aneurysm, Thoracic / diagnostic imaging
  • Aortic Aneurysm, Thoracic / genetics
  • Brachiocephalic Trunk*
  • DNA / genetics
  • Diagnosis, Differential
  • Humans
  • Male
  • Mammary Arteries*
  • Mesenteric Artery, Superior*
  • Mutation*
  • Protein Serine-Threonine Kinases
  • Receptor, Transforming Growth Factor-beta Type II
  • Receptors, Transforming Growth Factor beta / genetics*
  • Sequence Analysis, DNA
  • Vertebral Artery*


  • Receptors, Transforming Growth Factor beta
  • DNA
  • Protein Serine-Threonine Kinases
  • Receptor, Transforming Growth Factor-beta Type II