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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±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 …