Survival implications: hypertrophic cardiomyopathy in Noonan syndrome

Congenit Heart Dis. Jan-Feb 2011;6(1):41-7. doi: 10.1111/j.1747-0803.2010.00465.x.


Objectives: To understand relationships and survival implications between structural heart disease and hypertrophic cardiomyopathy in Noonan syndrome (Noonan syndrome-HCM), we reviewed the clinical course of 138 children with Noonan syndrome diagnosed with cardiovascular abnormalities and compared survival with the 30 children with Noonan syndrome-HCM with 120 contemporaneous children with nonsyndromic HCM.

Methods: Study cohorts represent consecutive cases diagnosed at our institution 1966 through 2006. Outcomes were modeled using multiphase parametric techniques followed by multivariable regression with bagging.

Results: Cardiac abnormalities in Noonan syndrome: Cardiac abnormalities in the 138 Noonan syndrome children included pulmonary valve dysplasia (52%), hypertrophic cardiomyopathy (22%), atrial septal defect (20%), ventricular septal defect (10%), mitral valve dysplasia (6%), coarctation (3%), and Fallot's tetralogy (2%). Need for surgery was high but not different from children with structural defects coexisting with HCM. Overall, late survival in children with Noonan syndrome and cardiac defects was good (91 ± 3% at 15 years), although significantly worse for those with Noonan syndrome-HCM (P < .01). Noonan syndrome-HCM vs. nonsyndromic HCM: In the 30 children with Noonan syndrome-HCM, structural cardiac malformations coexisted in 18 (57%). The incidence of structural cardiac malformations in nonsyndromic HCM was instead 3/120 (2.5%, P < .001). Risk-adjusted late survival was significantly worse for Noonan syndrome-HCM than for nonsyndromic HCM (P= .02).

Conclusions: Noonan syndrome-HCM frequently coexists with structural cardiac malformations, whereas nonsyndromic HCM does not; their natural histories may therefore be different. Late survival is significantly worse for Noonan syndrome-HCM than nonsyndromic HCM.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Cardiomyopathy, Hypertrophic / mortality*
  • Cardiomyopathy, Hypertrophic / surgery
  • Chi-Square Distribution
  • Child
  • Child, Preschool
  • Heart Defects, Congenital / mortality*
  • Heart Defects, Congenital / surgery
  • Humans
  • Incidence
  • Infant
  • Kaplan-Meier Estimate
  • Logistic Models
  • Noonan Syndrome / mortality*
  • Noonan Syndrome / surgery
  • Ontario
  • Prognosis
  • Risk Assessment
  • Risk Factors
  • Survival Rate
  • Time Factors