Document Detail

Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease.
MedLine Citation:
PMID:  15253767     Owner:  NLM     Status:  MEDLINE    
Fabry's disease is an X-linked lysosomal storage disease caused by a deficiency of alpha-galactosidase that results in an accumulation of neutral glycosphingolipids throughout the body, including the cardiovascular system. Fabry cardiomyopathy, characterized by progressive severe concentric left ventricular (LV) hypertrophy, is very frequent and is the most important cause of death in affected patients. Enzyme replacement therapy (ERT) allows a specific treatment for this disease, however, there are very few data on the effectiveness of therapy on cardiac involvement. Nine patients with Fabry cardiac disease were studied on basal condition and after 6 and 12 months of treatment with algasidase beta (Fabrazyme). A complete clinical, electrocardiographic and echocardiographic evaluation was performed in all patients. Interpretable Doppler recordings of transmitral flow and pulmonary flow velocity curves were also acquired. At baseline, the patients with Fabry's disease had increased LV septum and posterior wall thickness, normal LV fractional shortening, LV ejection fraction, normal Doppler parameters of mitral inflow but a duration of pulmonary vein flow velocity wave exceeding that of the mitral wave at atrial systole. ERT did not affect heart rate and arterial pressure. LV internal diameters did not change, there was a slight but not significant decrease in the LV posterior wall thickening and a progressive decrease in the interventricular septum thickening (p < 0.025) and in LV mass (p < 0.001) The difference in duration between pulmonary vein flow velocity wave and mitral wave at atrial systole significantly decreased (p < 0.001). These results suggest that ERT in patients with Fabry cardiomyopathy is able to reduce the LV mass and ameliorate the LV stiffness.
L Spinelli; A Pisani; M Sabbatini; M Petretta; M V Andreucci; D Procaccini; N Lo Surdo; S Federico; B Cianciaruso
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  66     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  2004 Aug 
Date Detail:
Created Date:  2004-07-15     Completed Date:  2005-02-24     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  158-65     Citation Subset:  IM    
Copyright Information:
Copyright 2004 Blackwell Munksgaard
Department of Cardiology, University Federico II, Naples, Italy.
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MeSH Terms
Analysis of Variance
Blood Flow Velocity
Cardiomyopathies / complications,  drug therapy*,  physiopathology
Fabry Disease / complications,  drug therapy*,  physiopathology
Heart Ventricles / physiopathology*
Isoenzymes / therapeutic use*
alpha-Galactosidase / therapeutic use*
Reg. No./Substance:
0/Isoenzymes; EC 3.2.1.-/agalsidase beta; EC

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