Transforming Growth Factor Beta-2 Mutations in Barlow's Disease and Aortic Dilatation

Ann Thorac Surg. 2017 Jul;104(1):e19-e21. doi: 10.1016/j.athoracsur.2017.01.103.

Abstract

We report on a patient operated on for degenerative myxomatous mitral and tricuspid valve disease (Barlow's disease) and aortic root dilatation. A valve repair operation and the postoperative course were uneventful. Multigenerational genetic analyses revealed two different mutations in the transforming growth factor beta-2 gene in the same patient. The two mutations in different exons were inherited from both parents each. None of the parents presented with either valve dysfunction or aortic root dilatation. This rare case illustrates potentially common genetic and signaling pathways of concomitant myxomatous valve disease and aortic root dilatation.

Publication types

  • Case Reports

MeSH terms

  • Aortic Aneurysm, Thoracic / diagnosis
  • Aortic Aneurysm, Thoracic / genetics*
  • Aortic Aneurysm, Thoracic / surgery
  • Cardiac Surgical Procedures / methods
  • DNA / genetics*
  • DNA Mutational Analysis
  • Echocardiography, Transesophageal
  • Female
  • Humans
  • Middle Aged
  • Mitral Valve Prolapse / diagnosis
  • Mitral Valve Prolapse / genetics*
  • Mitral Valve Prolapse / surgery
  • Multidetector Computed Tomography
  • Mutation*
  • Transforming Growth Factor beta2 / genetics*
  • Transforming Growth Factor beta2 / metabolism

Substances

  • Transforming Growth Factor beta2
  • DNA

Supplementary concepts

  • Barlow syndrome