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Evaluating Enzyme Replacement Therapy in Fabry Disease—Reply

Evaluating Enzyme Replacement Therapy in Fabry Disease—Reply In reply Up to 60% of men with classic Fabry disease have cardiac abnormalities, including left ventricular hypertrophy, valvular dysfunction, and conduction abnormalities. Recent data suggest that left ventricular hypertrophy and systolic function improve after 12 months of ERT.1 Systolic function is usually preserved, but mild to moderate impairment of diastolic filling is a relatively common finding, representing probably the most important cause of dyspnea in patients with Fabry disease.2 Electrocardiographic changes in Fabry disease are multiple and include AV conduction abnormalities (abbreviation of the PR interval or AV blocks), signs of left ventricular hypertrophy, and repolarization abnormalities.2 In children, the main cardiac manifestations include myocardial hypertrophy, which, in some patients mimics hypertrophic cardiomyopathy. Conduction system involvement leads to PR shortening or, in later stages, AV blocks. Arrhythmias presenting with variable severity also appear to be common. Valvular involvement is frequently noted but generally mild and clinically nonsignificant.3 We followed this patient for years, and we observed a change in the electrocardiogram (disappearance of the long PR interval), with improvement of the restrictive physiologic pattern (with improvement to normal of the impaired relaxation) after years of ERT. Correspondence: Dr Blum, Department of Medicine, Baruch-Padeh Poria Medical Center, Lower Galilee, Tiberias 15208, Israel (navablum@hotmail.com). References 1. Shah JSElliott PM Fabry disease and the heart: an overview of the natural history and the effect of enzyme replacement therapy. Acta Paediatr Suppl 2005;94 (447) 11- 14PubMedGoogle ScholarCrossref 2. Linhart ALubanda JCPalecek T et al. Cardiac manifestations in Fabry disease. J Inherit Metab Dis 2001;24 ((suppl 2)) 75- 83PubMedGoogle ScholarCrossref 3. Linhart AMagage SPalecek TBultas J Cardiac involvement in Fabry disease. Acta Paediatr Suppl 2002;91 (439) 15- 20PubMedGoogle ScholarCrossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Internal Medicine American Medical Association

Evaluating Enzyme Replacement Therapy in Fabry Disease—Reply

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Publisher
American Medical Association
Copyright
Copyright © 2010 American Medical Association. All Rights Reserved.
ISSN
0003-9926
eISSN
1538-3679
DOI
10.1001/archinternmed.2010.43
Publisher site
See Article on Publisher Site

Abstract

In reply Up to 60% of men with classic Fabry disease have cardiac abnormalities, including left ventricular hypertrophy, valvular dysfunction, and conduction abnormalities. Recent data suggest that left ventricular hypertrophy and systolic function improve after 12 months of ERT.1 Systolic function is usually preserved, but mild to moderate impairment of diastolic filling is a relatively common finding, representing probably the most important cause of dyspnea in patients with Fabry disease.2 Electrocardiographic changes in Fabry disease are multiple and include AV conduction abnormalities (abbreviation of the PR interval or AV blocks), signs of left ventricular hypertrophy, and repolarization abnormalities.2 In children, the main cardiac manifestations include myocardial hypertrophy, which, in some patients mimics hypertrophic cardiomyopathy. Conduction system involvement leads to PR shortening or, in later stages, AV blocks. Arrhythmias presenting with variable severity also appear to be common. Valvular involvement is frequently noted but generally mild and clinically nonsignificant.3 We followed this patient for years, and we observed a change in the electrocardiogram (disappearance of the long PR interval), with improvement of the restrictive physiologic pattern (with improvement to normal of the impaired relaxation) after years of ERT. Correspondence: Dr Blum, Department of Medicine, Baruch-Padeh Poria Medical Center, Lower Galilee, Tiberias 15208, Israel (navablum@hotmail.com). References 1. Shah JSElliott PM Fabry disease and the heart: an overview of the natural history and the effect of enzyme replacement therapy. Acta Paediatr Suppl 2005;94 (447) 11- 14PubMedGoogle ScholarCrossref 2. Linhart ALubanda JCPalecek T et al. Cardiac manifestations in Fabry disease. J Inherit Metab Dis 2001;24 ((suppl 2)) 75- 83PubMedGoogle ScholarCrossref 3. Linhart AMagage SPalecek TBultas J Cardiac involvement in Fabry disease. Acta Paediatr Suppl 2002;91 (439) 15- 20PubMedGoogle ScholarCrossref

Journal

Archives of Internal MedicineAmerican Medical Association

Published: Mar 22, 2010

Keywords: fabry disease,enzyme replacement therapy

References