Restrictive and hypertrophic cardiomyopathies in Noonan syndrome: the overlap syndromes.
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.
Wilmshurst
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PT
Department of Cardiology, Onassis Cardiac Surgery Centre, Athens, Greece.
Katritsis
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D000293:Adolescent; D009202:Cardiomyopathies / Q000150:complications* / Q000235:genetics / Q000473:pathology; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications / Q000235:genetics / Q000473:pathology; D002313:Cardiomyopathy, Restrictive / Q000150:complications / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D009206:Myocardium / Q000473:pathology; D009634:Noonan Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology; D010641:Phenotype