Restrictive and hypertrophic cardiomyopathies in Noonan syndrome: the overlap syndromes

Heart. 1996 Jan;75(1):94-7. doi: 10.1136/hrt.75.1.94.

Abstract

A woman with Noonan syndrome had clinical and haemodynamic features of restrictive cardiomyopathy. There was no ventricular hypertrophy on echocardiography but myocardial biopsies showed myocyte hypertrophy without pathological disarray. This case illustrates the overlap of the cardiac phenotypes of Noonan syndrome, restrictive cardiomyopathy, and hypertrophic cardiomyopathy.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cardiomyopathies / complications*
  • Cardiomyopathies / genetics
  • Cardiomyopathies / pathology
  • Cardiomyopathy, Hypertrophic / complications
  • Cardiomyopathy, Hypertrophic / genetics
  • Cardiomyopathy, Hypertrophic / pathology
  • Cardiomyopathy, Restrictive / complications
  • Cardiomyopathy, Restrictive / genetics
  • Cardiomyopathy, Restrictive / pathology
  • Female
  • Humans
  • Myocardium / pathology
  • Noonan Syndrome / complications*
  • Noonan Syndrome / genetics
  • Noonan Syndrome / pathology
  • Phenotype