A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome

Genet Med. 2006 Jul;8(7):401-8. doi: 10.1097/01.gim.0000223550.41849.e3.

Abstract

Purpose: The prevalence of most minor cardiovascular manifestations in Marfan syndrome (MFS) is unknown. We assessed the prevalence of minor cardiovascular manifestations in MFS to evaluate their usefulness in a diagnostic setting.

Methods: Seventy-seven patients with MFS (aged 4 months to 55 years) underwent echocardiography to assess the presence of mitral valve prolapse and the diameter of the main pulmonary artery. A subset of 29 adult patients with MFS also underwent magnetic resonance imaging evaluation of the diameters of the thoracoabdominal aorta.

Results: Mitral valve prolapse was encountered in 66% of patients with MFS, with an equal distribution of classic and nonclassic mitral valve prolapse. The main pulmonary artery diameter was significantly larger in patients with MFS at all ages when compared with controls. In the adult group (> or = 14 years), we were able to provide a cutoff value of 23 mm to define pulmonary artery dilatation. The descending aorta was enlarged, but with substantial overlap with controls, thus precluding the use of a cutoff value.

Conclusions: Mitral valve prolapse and main pulmonary artery dilatation are common findings in MFS patients at all ages and are easy to assess with echocardiography. Cutoff values to define dilatation of the descending aorta are hard to define, making them of limited value in the diagnostic evaluation. We recommend echocardiographic evaluation of mitral valve prolapse and main pulmonary artery diameter in patients referred for cardiovascular diagnostic assessment for MFS.

Publication types

  • Evaluation Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aorta, Abdominal / abnormalities
  • Aorta, Abdominal / surgery
  • Aorta, Thoracic / abnormalities
  • Cardiovascular Abnormalities / diagnosis
  • Cardiovascular Abnormalities / epidemiology*
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Male
  • Marfan Syndrome / diagnosis*
  • Middle Aged
  • Mitral Valve Prolapse / epidemiology
  • Mitral Valve Stenosis / epidemiology
  • Prevalence
  • Pulmonary Artery / abnormalities
  • Pulmonary Artery / diagnostic imaging
  • Radiography