Marfan's syndrome: patients died young, mainly from heart problems.

Clinical bottom line (level 4)

  1. Patients with Marfan's syndrome had a greatly shortened life expectancy. Most died from cardiac problems (mainly aortic dilatation).
Marsalese et al: Journal of the American College of Cardiology 1989; 14 (2): 422-428
Expires December 2004

The study

Case series with ?objective ?blinded outcomes, not adjusted for confounding factors, not validated in an independent set of patients.

Setting: teaching hospital, USA

84 patients (aged range 1 to 66 years; mean 25, 68% male) Marfan's syndrome (classical picture, or with a family member with Marfan's syndrome, and at least two of: dislocated lens, aortic regurgitation or typical skeletal features)


96 followed for mean 8.3 years
Outcomes studied:
  • cause of death: aortic dissection/ rupture
  • sudden death/ cardiac arrest
  • heart failure
  • myocardial infarction
  • other

    • Cause of death was determined by autopsy report or death certificate.

    The evidence

    outcome time to outcome number of patients/total number %
    (95% CI)
    cause of death: aortic dissection/ rupture mean 8.3 years / 48%
    (% to %)
    sudden death/ cardiac arrest mean 8.3 years / 13%
    (% to %)
    heart failure mean 8.3 years / 13%
    (% to %)
    myocardial infarction mean 8.3 years / 10%
    (% to %)
    other mean 8.3 years / 16%
    (% to %)

    • 49 patients did not undergo surgery
    • 16 patients underwent surgery, before 1979
    • 19 patients underwent late surgery, after 1979
    • 56% underwent cardiac catheterisation
    • estimated survival (years):
      • 5 years: 78.4%
      • 10 years: 57.1%
      • 15 years: 49.5%

    Comments

    1. There was no clear definition of patients.
    2. Poor long term survival was noted if patients had cardiomegaly (p<0.0001), or a diastolic murmur (p<0.0009).

    Citation

    1. Marsalese DL, Moodie DS, Vacante M, et al: Marfan's syndrome: Natural history and long-term follow-up of cardiovascular involvement. Journal of the American College of Cardiology 1989; 14 (2): 422-428
    Search Terms: reference from review article
    Contributor: Chris Ball and Clare Wotton, December 2000
    Reviewer:

    Clinical Question.
    Patient Marfan's syndrome
    Intervention or Exposure
    Outcome life expectancy