title: Neuronal ceroid lipofuscinosis in a 31-year-old woman presenting as biventricular heart failure with restrictive features.
abstract: A 31-year-old woman presented with dyspnea and left-sided chest discomfort and was found to have biventricular heart failure with impaired ventricular filling. Clinically, she was thought to have restrictive cardiomyopathy or constrictive pericarditis. Transmission electron microscopy of myocardial tissue unexpectedly revealed crosshatched, curvilinear, and fingerprint depositions, which were characteristic for neuronal ceroid lipofuscinosis. Cardiac involvement by this inherited disorder is discussed in light of the findings in this patient and in 15 other reported cases.
authors.affiliation: Mayo Work Study Program, Mayo Clinic, Rochester, MN, USA.
authors.forename: Michael E
authors.initials: ME
authors.lastname: Fealey
authors.forename: William D
authors.initials: WD
authors.lastname: Edwards
authors.forename: Martha
authors.initials: M
authors.lastname: Grogan
authors.forename: Thomas A
authors.initials: TA
authors.lastname: Orszulak
mesh_terms: D000328:Adult; D002313:Cardiomyopathy, Restrictive / Q000175:diagnosis; D003937:Diagnosis, Differential; D005260:Female; D006333:Heart Failure / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D046529:Microscopy, Electron, Transmission; D009472:Neuronal Ceroid-Lipofuscinoses / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D010494:Pericarditis, Constrictive / Q000175:diagnosis; D035583:Rare Diseases