title: Double-chambered right ventricle in an adult with Noonan syndrome.
abstract: We report the case of a double-chambered right ventricle in a 59-year-old man with previously undiagnosed Noonan syndrome. The patient presented with dyspnea on exertion and his transthoracic echocardiogram suggested a right ventricular outflow tract obstruction. Cardiac catheterization, cardiac magnetic resonance imaging, and transesophageal echocardiography revealed a hypertrophic muscle bundle dynamically obstructing right ventricular outflow. He was referred for operative repair of his double-chambered right ventricle and had successful patch expansion of his right ventricular outflow tract. In addition, he underwent a medical genetics evaluation that confirmed a new diagnosis of Noonan syndrome. To the best of our knowledge, this is the first report of a double-chambered right ventricle in an adult patient with Noonan syndrome.
authors.affiliation: Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. ampatel@partners.org
authors.forename: Anshul M
authors.initials: AM
authors.lastname: Patel
authors.forename: Jae Bum
authors.initials: JB
authors.lastname: Kim
authors.forename: Amy E
authors.initials: AE
authors.lastname: Roberts
authors.forename: Jayashri
authors.initials: J
authors.lastname: Aragam
mesh_terms: D003937:Diagnosis, Differential; D004417:Dyspnea / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D004452:Echocardiography; D017548:Echocardiography, Transesophageal; D006330:Heart Defects, Congenital / Q000150:complications / Q000175:diagnosis; D006352:Heart Ventricles / Q000002:abnormalities*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009634:Noonan Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases / Q000235:genetics; D014694:Ventricular Outflow Obstruction / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases