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Advances in Hematology
Volume 2010, Article ID 820843, 5 pages
Clinical Study

Echocardiographic Assessment of Left Ventricular Function in Type 1 Gaucher's Disease

1Department of Cardiology, University Medical Centre Ljubljana, Zaloška 7, 1525 Ljubljana, Slovenia
2Department of Haematology, University Medical Centre Ljubljana, Zaloška 7, 1525 Ljubljana, Slovenia
3Institute of Oncology, Zaloška 2, 1525 Ljubljana, Slovenia

Received 22 March 2010; Revised 20 May 2010; Accepted 14 June 2010

Academic Editor: M. Gertz

Copyright © 2010 Mirta Koželj et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


There is predominate opinion among physicians managing type 1 Gauchers' disease (GD) that cardiac involvement is not an issue in these patients. In order to follow this hypothesis, we prospectively investigated 15 adult imiglucerase-treated type 1 GD patients by echocardiography, Doppler, and tissue Doppler echocardiography. This was a case-controlled study with 18 matched healthy volunteers. The obtained data was correlated with the levels of NT-proBNP (brain natriuretic peptide). None of the GD patients had clinical signs of heart disease. In 3 of the 15 patients, we observed echocardiographic signs of aortic and mitral valve calcification. The left ventricular systolic function was within normal limits. Compared to the control group, there was no statistically significant difference observed in the most sensitive indices of left ventricular diastolic function, parameter ( ), and ratio ( ), as demonstrated by tissue Doppler echocardiography. However, there was a positive correlation between the ratio and NT-proBNP plasma levels ( ). In conclusion, the prospective echocardiographic study of type 1 GD patients did not validate any left ventricular dysfunction. But, the ratio showed a strong statistical correlation with the most sensitive indicators of heart failure, NT-proBNP. Research on larger groups of patients and the usage of even more sensitive methods as strain-rate imaging will be necessary to confirm eventual myocardial involvement in GD patients.