title: Cardiac magnetic resonance imaging in Danon disease.
abstract: Danon disease is a rare X-linked dominant metabolic disorder caused by a primary deficiency in lysosome-associated membrane protein 2. It is characterized by the development of cardiac disease, skeletal myopathy and cognitive disorder. Due to the rarity of Danon disease, physicians may be unfamiliar with the phenotype, confusing it with hypertrophic cardiomyopathy or other causes of left ventricular hypertrophy. The present report demonstrates the clinical value of cardiac magnetic resonance imaging for the diagnostic work-up of Danon disease.
authors.affiliation: Division of Cardiology, University Hospital Santa Maria della Misericordia, Udine, Italy. gnucifora@cardionet.it
authors.forename: Gaetano
authors.initials: G
authors.lastname: Nucifora
authors.forename: Daniela
authors.initials: D
authors.lastname: Miani
authors.forename: Gianluca
authors.initials: G
authors.lastname: Piccoli
authors.forename: Alessandro
authors.initials: A
authors.lastname: Proclemer
mesh_terms: D000293:Adolescent; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis; D003287:Contrast Media; D003937:Diagnosis, Differential; D005260:Female; D052120:Glycogen Storage Disease Type IIb / Q000175:diagnosis*; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000209:etiology; D018810:Magnetic Resonance Angiography / Q000379:methods; D019028:Magnetic Resonance Imaging, Cine / Q000379:methods; D008875:Middle Aged
chemical_list: D003287:Contrast Media