The role of cardiac magnetic resonance in assessing the cardiac involvement in Gaucher type 1 patients: Morphological and functional evaluations

A. Roghi, E. Poggiali, E. Cassinerio, P. Pedrotti, M. Giuditta, A. Milazzo, G. Quattrocchi, M.D. Cappellini

Research output: Contribution to journalArticlepeer-review


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. Aim 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 W 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. Conclusion 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. © 2017 Italian Federation of Cardiology. All rights reserved.
Original languageEnglish
Pages (from-to)244-248
Number of pages5
JournalJournal of Cardiovascular Medicine
Issue number4
Publication statusPublished - 2017


  • Cardiac disease
  • Gaucher disease
  • Heart valve
  • MRI
  • gadolinium
  • contrast medium
  • gadobutrol
  • glucosylceramidase
  • imiglucerase
  • organometallic compound
  • adult
  • aorta stenosis
  • aortic dilatation
  • Article
  • cardiovascular magnetic resonance
  • cardiovascular risk
  • clinical article
  • clinical evaluation
  • cohort analysis
  • contrast enhancement
  • controlled study
  • disease association
  • echocardiography
  • enzyme replacement
  • female
  • functional assessment
  • genotype
  • health status
  • health survey
  • heart atrium enlargement
  • heart dilatation
  • heart disease
  • heart function
  • human
  • interview
  • Italy
  • lung pressure
  • male
  • medical history
  • mitral valve
  • mitral valve regurgitation
  • morphology
  • myocardial infiltration
  • nuclear magnetic resonance scanner
  • prognosis
  • pulmonary hypertension
  • risk factor
  • splenectomy
  • tertiary care center
  • valvular heart disease
  • aortic valve
  • aortic valve stenosis
  • cardiomegaly
  • cine magnetic resonance imaging
  • complication
  • diagnostic imaging
  • heart left ventricle function
  • heart right ventricle function
  • heart stroke volume
  • middle aged
  • Mitral Valve Insufficiency
  • pathophysiology
  • predictive value
  • time factor
  • treatment outcome
  • Adult
  • Aortic Valve
  • Aortic Valve Stenosis
  • Cardiomegaly
  • Contrast Media
  • Echocardiography
  • Enzyme Replacement Therapy
  • Female
  • Gaucher Disease
  • Glucosylceramidase
  • Humans
  • Magnetic Resonance Imaging, Cine
  • Male
  • Middle Aged
  • Mitral Valve
  • Organometallic Compounds
  • Predictive Value of Tests
  • Stroke Volume
  • Tertiary Care Centers
  • Time Factors
  • Treatment Outcome
  • Ventricular Function, Left
  • Ventricular Function, Right


Dive into the research topics of 'The role of cardiac magnetic resonance in assessing the cardiac involvement in Gaucher type 1 patients: Morphological and functional evaluations'. Together they form a unique fingerprint.

Cite this