title: Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations.
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.
authors.affiliation: University of Oxford Centre for Clinical Magnetic Resonance Research (OCMR), Oxford, UK. lucy.hudsmith@cardiov.ox.ac.uk
authors.forename: Lucy E
authors.initials: LE
authors.lastname: Hudsmith
authors.forename: Steffen E
authors.initials: SE
authors.lastname: Petersen
authors.forename: Jane M
authors.initials: JM
authors.lastname: Francis
authors.forename: Matthew D
authors.initials: MD
authors.lastname: Robson
authors.forename: Hugh
authors.initials: H
authors.lastname: Watkins
authors.forename: Stefan
authors.initials: S
authors.lastname: Neubauer
mesh_terms: D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications / Q000175:diagnosis*; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000175:diagnosis* / Q000235:genetics; D003287:Contrast Media; D005260:Female; D019786:Gadolinium DTPA; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation; D009634:Noonan Syndrome / Q000150:complications*; D012518:Sarcomeres / Q000235:genetics*
chemical_list: D003287:Contrast Media; D019786:Gadolinium DTPA