Incidence of cardiovascular events and risk markers in a prospective study of children diagnosed with Marfan syndrome

Arch Cardiovasc Dis. 2020 Jan;113(1):40-49. doi: 10.1016/j.acvd.2019.09.010. Epub 2019 Nov 14.

Abstract

Background: Little is known about the incidence of cardiovascular events (CVEs) and their associated risk markers in children with Marfan syndrome (MFS).

Aims: To assess the incidence of CVEs and determine risk markers in a cohort diagnosed with Marfan syndrome during childhood and followed for several years.

Methods: From a French multicentre nationwide database, 462 patients with MFS diagnosed during childhood were included prospectively. Patients' files were screened for a period of 20 years (1993-2013). CVEs (e.g. death, aortic dissection, cardiac valve or aortic root surgery) were assessed during the prospective follow-up.

Results: Median (interquartile range) age at the end of follow-up was 17.2 (11.1-21.3) years. CVEs were reported for 35 participants (7.6%; 95% confidence interval [CI] 5.3-10.4%). First CVEs were prophylactic aortic root surgery (n=29), aortic dissection (n=4; two aged <18 years) and death (n=2). Kaplan-Meier cumulative incidence of CVEs was 5.3% (95% CI 3.3-8.7%) during childhood (aged≤18 years) and 19.4% (95% CI 13.3-27.9%) at 25years of age. The cumulative rate of CVEs was higher in case of Valsalva sinus Z-score increase of≥0.1 per year (P=0.0003), maximal Valsalva sinus diameter growth speed ≥5mm per year (P=0.03), aortic regurgitation≥2 (P=0.0005) and maximal Valsalva sinus Z-score≥3 before 16 years of age (P<0.0001). In a multivariable Cox proportional analysis, the Valsalva sinus Z-score remained significantly related to outcome. Considering aortic root evolution, aortic regurgitation, age at diagnosis and beta-blocker therapy were related to Valsalva sinus Z-score evolution during follow-up.

Conclusions: CVEs in children with MFS are mainly related to prophylactic aortic root surgery. Aortic dissections are rarely observed in children. The Valsalva sinus Z-score is a strong indicator of subsequent CVEs in children with MFS. Attention to follow-up and beta-blocker observance may be warranted in high-risk children.

Keywords: Aortic root surgery; Children; Chirurgie de la racine aortique; Enfants; Marfan syndrome; Outcome; Résultats; Syndrome de Marfan.

Publication types

  • Multicenter Study

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Cardiovascular Diseases / diagnosis
  • Cardiovascular Diseases / epidemiology*
  • Cardiovascular Diseases / mortality
  • Cardiovascular Diseases / therapy
  • Child
  • Child, Preschool
  • Databases, Factual
  • Female
  • France / epidemiology
  • Humans
  • Incidence
  • Infant
  • Male
  • Marfan Syndrome / diagnosis
  • Marfan Syndrome / epidemiology*
  • Marfan Syndrome / mortality
  • Marfan Syndrome / therapy
  • Prognosis
  • Prospective Studies
  • Risk Assessment
  • Risk Factors
  • Time Factors
  • Young Adult