title: Unusual combination of congenital heart defects in an infant with Noonan syndrome.
abstract: Congenital heart disease occurs in 35-50% of patients diagnosed with Noonan syndrome. We present an infant with an unusual combination of congenital heart defects not previously reported, including partial atrioventricular septal defect, polyvalvular dysplasia, and progressive hypertrophic cardiomyopathy. We discuss the possible interaction between these lesions that may have led to the patient's rapid demise.
authors.affiliation: Division of Pediatric Cardiology, Rhode Island Hospital, Providence, RI 02903, USA.
authors.forename: L R
authors.initials: LR
authors.lastname: Feit
authors.forename: K
authors.initials: K
authors.lastname: Hansen
authors.forename: C E
authors.initials: CE
authors.lastname: Oyer
authors.forename: J C
authors.initials: JC
authors.lastname: Werner
mesh_terms: D000792:Angiography; D006328:Cardiac Catheterization; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000473:pathology; D004452:Echocardiography; D017809:Fatal Outcome; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000473:pathology; D006343:Heart Septal Defects / Q000175:diagnosis / Q000473:pathology; D006351:Heart Valves / Q000002:abnormalities / Q000473:pathology; D006352:Heart Ventricles / Q000473:pathology; D006439:Hemodynamics / Q000502:physiology; D006801:Humans; D007231:Infant, Newborn; D009206:Myocardium / Q000473:pathology; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000473:pathology