Transforming growth factor-beta receptor type II mutation in a patient with bicuspid aortic valve disease and intraoperative aortic dissection

Ann Thorac Surg. 2011 May;91(5):e70-1. doi: 10.1016/j.athoracsur.2010.12.060.

Abstract

We report on a patient with familial bicuspid aortic valve disease operated on for proximal aortic aneurysm. The surgery was complicated by intraoperative aortic dissection. Multi-generational genetic analysis demonstrated a mutation in the transforming growth factor-beta receptor type II gene. This case confirms the clinical hypothesis that the proximal aortic disease has a genetic origin in some bicuspid aortic valve patients.

Publication types

  • Case Reports

MeSH terms

  • Aortic Aneurysm, Thoracic / diagnostic imaging
  • Aortic Aneurysm, Thoracic / genetics*
  • Aortic Aneurysm, Thoracic / surgery
  • Aortic Dissection / diagnostic imaging
  • Aortic Dissection / genetics*
  • Aortic Dissection / surgery
  • Aortic Valve / abnormalities*
  • Elective Surgical Procedures / methods
  • Female
  • Follow-Up Studies
  • Genetic Predisposition to Disease
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics
  • Heart Defects, Congenital / surgery
  • Heart Valve Diseases / diagnosis
  • Heart Valve Diseases / genetics
  • Heart Valve Diseases / surgery
  • Humans
  • Incidental Findings
  • Intraoperative Complications / diagnosis
  • Intraoperative Complications / surgery*
  • Middle Aged
  • Mitral Valve*
  • Mutation
  • Protein Serine-Threonine Kinases / genetics*
  • Radiography
  • Receptor, Transforming Growth Factor-beta Type II
  • Receptors, Transforming Growth Factor beta / genetics*
  • Risk Assessment
  • Treatment Outcome
  • Vascular Surgical Procedures / methods

Substances

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