Surgical experience in a patient with Loeys-Dietz syndrome type I

Ann Thorac Surg. 2014 May;97(5):e125-7. doi: 10.1016/j.athoracsur.2013.12.084.

Abstract

Loeys-Dietz syndrome is a recently described genetic disorder with aortic and vascular involvement. Here, we present the medical history and surgical management of a patient with Loeys-Dietz syndrome type I caused by a mutation in M253I in the TGFBR1 gene who received complete aortic replacement and various peripheral vascular surgeries over the course of 25 years.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aneurysm / diagnostic imaging
  • Aneurysm / surgery
  • Aortic Aneurysm, Thoracic / diagnostic imaging
  • Aortic Aneurysm, Thoracic / surgery*
  • Aortic Dissection / diagnostic imaging
  • Aortic Dissection / surgery*
  • Aortic Valve Stenosis / diagnostic imaging
  • Aortic Valve Stenosis / surgery*
  • Blood Vessel Prosthesis Implantation / methods
  • Disease-Free Survival
  • Heart Valve Prosthesis Implantation / methods
  • Humans
  • Imaging, Three-Dimensional
  • Loeys-Dietz Syndrome / diagnosis
  • Loeys-Dietz Syndrome / genetics
  • Loeys-Dietz Syndrome / surgery*
  • Male
  • Mutation
  • Protein Serine-Threonine Kinases / genetics
  • Receptor, Transforming Growth Factor-beta Type I
  • Receptors, Transforming Growth Factor beta / genetics
  • Risk Assessment
  • Subclavian Artery / diagnostic imaging
  • Subclavian Artery / surgery*
  • Time Factors
  • Tomography, X-Ray Computed
  • Treatment Outcome
  • Ultrasonography

Substances

  • Receptors, Transforming Growth Factor beta
  • Protein Serine-Threonine Kinases
  • Receptor, Transforming Growth Factor-beta Type I
  • TGFBR1 protein, human