A novel mutation of TGFBR2 causing Loeys-Dietz syndrome complicated with pregnancy-related fatal cervical arterial dissections

Int J Cardiol. 2015 Dec 15:201:288-90. doi: 10.1016/j.ijcard.2015.07.109. Epub 2015 Aug 8.
No abstract available

Keywords: Loeys–Dietz syndrome; Pregnancy; Subarachnoid hemorrhage; TGFBR2; Thoracic aortic dissection.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA / genetics*
  • DNA Mutational Analysis
  • Fatal Outcome
  • Female
  • Humans
  • Loeys-Dietz Syndrome / complications
  • Loeys-Dietz Syndrome / genetics*
  • Loeys-Dietz Syndrome / metabolism
  • Mutation*
  • Pregnancy
  • Pregnancy Complications, Cardiovascular*
  • Protein Serine-Threonine Kinases / genetics*
  • Protein Serine-Threonine Kinases / metabolism
  • Receptor, Transforming Growth Factor-beta Type II
  • Receptors, Transforming Growth Factor beta / genetics*
  • Receptors, Transforming Growth Factor beta / metabolism
  • Tomography, X-Ray Computed
  • Transforming Growth Factor beta
  • Vertebral Artery Dissection / diagnosis
  • Vertebral Artery Dissection / etiology*
  • Vertebral Artery Dissection / genetics
  • Young Adult

Substances

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