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Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations
Authors:Lucy E. Hudsmith  Steffen E. Petersen  Jane M. Francis  Matthew D. Robson  Hugh Watkins  Stefan Neubauer
Affiliation:(1) University of Oxford Centre for Clinical Magnetic Resonance Research (OCMR), Oxford, UK;(2) Department of Cardiovascular Medicine, University of Oxford, Oxford, UK;(3) University of Oxford centre for Clinical Magnetic Resonance Research, University Department of Cardiovascular Medicine, The John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK
Abstract:
A 27 year old female with Noonan syndrome and hypertrophic cardiomyopathy underwent cardiovascular magnetic resonance imaging. These images showed asymmetrical septal hypertrophy with maximal left ventricular end-diastolic wall thickness of 25 mm. Following administration of gadolinium, areas of hyperenhancement were seen in the anterior, anteroseptal and lateral walls. This is the first report of focal gadolinium hyperenhancement in hypertrophic cardiomyopathy due to Noonan syndrome and suggests that myocardial fibrosis can be imaged by MR hyperenhancement as seen previously in sarcomeric hypertrophic cardiomyopathy.
Keywords:cardiovascular magnetic resonance  hypertrophic cardiomyopathy, late gadolinium hyperenhancement  noonan syndrome
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