Key result
Noonan syndrome can manifest with restrictive cardiomyopathy and myocyte hypertrophy despite normal ventricular wall thickness.
Why the study?
The cardiac phenotypes of Noonan syndrome, restrictive cardiomyopathy, and hypertrophic cardiomyopathy can overlap.
Population
A woman with Noonan syndrome and features of restrictive cardiomyopathy
Design
Case report
Answers are grounded in this paper and cite their sources.
May prompt genetic evaluation in unexplained restrictive cardiomyopathy; leaves open the prevalence of this Noonan overlap.
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.
No takes yet. Share an insight, caveat, or question.
Wilmshurst et al. (1996) studied this question. Noonan syndrome can present with an overlap of restrictive cardiomyopathy haemodynamics and biopsy-proven myocyte hypertrophy despite normal ventricular wall thickness on echocardiography.
Synapse has enriched 10 related papers. Consider them for comparative context: