title: The role of cardiac magnetic resonance in assessing the cardiac involvement in Gaucher type 1 patients: morphological and functional evaluations.
abstract: BACKGROUND
  Type 1 Gaucher disease (GD1) is the most common lysosomal disorder, characterized by the accumulation of beta-glucocerebroside into the macrophages of several organs. Cardiac involvement is rare and referred to as restrictive cardiomyopathy, pulmonary hypertension, and calcifications of the valves and the aortic arch.
  
  
  OBJECTIVE
  To assess the cardiovascular status by cardiac magnetic resonance, including evaluation of tissue characterization, in GD1 patients.
  
  
  METHODS
  Nine GD1 patients were recruited at the Tertiary Care Centre for Rare Diseases at Ca' Granda Foundation IRCCS Hospital, Milan. The patients' records were available for a mean time of 6 ± 3 years. Medical history of cardiac disease and cardiovascular risk factors were surveyed by direct interview. Patients were scanned with a 1.5 Avanto Siemens using a comprehensive cardiovascular evaluation protocol, including morphologic and functional sequences with gadolinium contrast media, to assess early and late enhancement (late gadolinium enhancement). Echocardiography was performed to study the cardiac morphology and function, including the measurement of pulmonary pressure.
  
  
  RESULTS
  Three patients showed left atrial enlargement, one patient showed moderate aortic stenosis in bicuspid valve with mild aortic dilatation, and one patient showed moderate mitral regurgitation. No evidence of myocardial late gadolinium enhancement was detected after gadolinium contrast media. Seven patients received enzyme replacement therapy for a median of 1 year, and two patients were evaluated at diagnosis.
  
  
  CONCLUSIONS
  Although cardiac disease in Gaucher disease is considered rare and associated with particular genotypes, we have found two valvular diseases and mild left atrial enlargement in three out of nine patients. Further studies to evaluate the prognostic value of these findings are warranted.
authors.affiliation: aCMR Unit, Department of Cardiology, Niguarda Ca' Granda Hospital bDepartment of Clinical Sciences and Community Health cRare Disease Centre, Department of Internal Medicine dCardiovascular Department, Ca' Granda Ospedale Maggiore Policlinico Foundation IRCCS, University of Milan, Milan, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Roghi
authors.forename: Erika
authors.initials: E
authors.lastname: Poggiali
authors.forename: Elena
authors.initials: E
authors.lastname: Cassinerio
authors.forename: Patrizia
authors.initials: P
authors.lastname: Pedrotti
authors.forename: Marianna
authors.initials: M
authors.lastname: Giuditta
authors.forename: Angela
authors.initials: A
authors.lastname: Milazzo
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Quattrocchi
authors.forename: Maria Domenica
authors.initials: MD
authors.lastname: Cappellini
mesh_terms: D000328:Adult; D001021:Aortic Valve / Q000000981:diagnostic imaging / Q000503:physiopathology; D001024:Aortic Valve Stenosis / Q000000981:diagnostic imaging* / Q000209:etiology / Q000503:physiopathology; D006332:Cardiomegaly / Q000000981:diagnostic imaging* / Q000209:etiology / Q000503:physiopathology; D003287:Contrast Media / Q000008:administration & dosage; D004452:Echocardiography; D056947:Enzyme Replacement Therapy; D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D005962:Glucosylceramidase / Q000627:therapeutic use; D006801:Humans; D007558:Italy; D019028:Magnetic Resonance Imaging, Cine; D008297:Male; D008875:Middle Aged; D008943:Mitral Valve / Q000000981:diagnostic imaging / Q000503:physiopathology; D008944:Mitral Valve Insufficiency / Q000000981:diagnostic imaging* / Q000209:etiology / Q000503:physiopathology; D009942:Organometallic Compounds / Q000008:administration & dosage; D011237:Predictive Value of Tests; D013318:Stroke Volume; D062606:Tertiary Care Centers; D013997:Time Factors; D016896:Treatment Outcome; D016277:Ventricular Function, Left; D016278:Ventricular Function, Right
chemical_list: D003287:Contrast Media; D009942:Organometallic Compounds; C090600:gadobutrol; D005962:Glucosylceramidase; C090568:imiglucerase