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Usefulness of tissue Doppler on early detection of cardiac disease in Fabry patients and potential role of enzyme replacement therapy (ERT) for avoiding progression of disease.
Eur J Echocardiogr. 2011 Sep; 12(9):671-7.EJ

Abstract

AIMS

Cardiac involvement, including progressive cardiomyopathy, is common in Fabry disease and is a leading cause of premature mortality. We sought to determine if tissue Doppler imaging (TDI) could identify Fabry disease patients at risk for the development of cardiomyopathy and if enzyme replacement therapy (ERT) with agalsidase alfa might slow or prevent the progression of cardiac involvement.

METHODS AND RESULTS

Fabry disease patients were enrolled in this prospective, observational study. Echocardiography was performed at baseline and periodically throughout the study. A single investigator, blinded to both the type of assessment (baseline or follow-up) and enzyme replacement status of the patient, evaluated all echocardiograms. Seventy-six patients (26 male, 50 females) were enrolled in the study. Twenty men and 13 women were treated with agalsidase alfa during the study. At baseline, increasing interventricular septum thickness was significantly associated with decreasing TDI velocities. Twenty-nine patients >18 years old (23 females) had no evidence of cardiac involvement at baseline (normal LVM and normal TDI velocities). In this cohort, 80% (16 of 20) of patients not on ERT progressed to demonstrating an abnormal TDI velocity during follow-up, whereas only 33% (3 of 9) of patients on ERT progressed to TDI abnormalities (P= 0.031).

CONCLUSION

In Fabry disease, reduced TDI velocity seems to be the initial sign of cardiac involvement that occurs before the development of cardiac hypertrophy. ERT with agalsidase alfa delays the onset of cardiac involvement and should be considered at an earlier stage of the disease, even in the absence of left ventricular hypertrophy.

Authors+Show Affiliations

Laboratorio de Ecocardiografía, Instituto Cardiovascular, Hospital Clínico San Carlos, C/Profesor Martín Lagos, 28040 Madrid, Spain. zamorano@secardiologia.esNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

21810826

Citation

Zamorano, José, et al. "Usefulness of Tissue Doppler On Early Detection of Cardiac Disease in Fabry Patients and Potential Role of Enzyme Replacement Therapy (ERT) for Avoiding Progression of Disease." European Journal of Echocardiography : the Journal of the Working Group On Echocardiography of the European Society of Cardiology, vol. 12, no. 9, 2011, pp. 671-7.
Zamorano J, Serra V, Pérez de Isla L, et al. Usefulness of tissue Doppler on early detection of cardiac disease in Fabry patients and potential role of enzyme replacement therapy (ERT) for avoiding progression of disease. Eur J Echocardiogr. 2011;12(9):671-7.
Zamorano, J., Serra, V., Pérez de Isla, L., Feltes, G., Calli, A., Barbado, F. J., Torras, J., Hernandez, S., Herrera, J., Herrero, J. A., & Pintos, G. (2011). Usefulness of tissue Doppler on early detection of cardiac disease in Fabry patients and potential role of enzyme replacement therapy (ERT) for avoiding progression of disease. European Journal of Echocardiography : the Journal of the Working Group On Echocardiography of the European Society of Cardiology, 12(9), 671-7. https://doi.org/10.1093/ejechocard/jer109
Zamorano J, et al. Usefulness of Tissue Doppler On Early Detection of Cardiac Disease in Fabry Patients and Potential Role of Enzyme Replacement Therapy (ERT) for Avoiding Progression of Disease. Eur J Echocardiogr. 2011;12(9):671-7. PubMed PMID: 21810826.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Usefulness of tissue Doppler on early detection of cardiac disease in Fabry patients and potential role of enzyme replacement therapy (ERT) for avoiding progression of disease. AU - Zamorano,José, AU - Serra,Viviana, AU - Pérez de Isla,Leopoldo, AU - Feltes,Gisela, AU - Calli,Andrea, AU - Barbado,F Javier, AU - Torras,Joan, AU - Hernandez,Salvador, AU - Herrera,Julio, AU - Herrero,Jose A, AU - Pintos,Guillem, Y1 - 2011/08/02/ PY - 2011/8/4/entrez PY - 2011/8/4/pubmed PY - 2012/1/19/medline SP - 671 EP - 7 JF - European journal of echocardiography : the journal of the Working Group on Echocardiography of the European Society of Cardiology JO - Eur J Echocardiogr VL - 12 IS - 9 N2 - AIMS: Cardiac involvement, including progressive cardiomyopathy, is common in Fabry disease and is a leading cause of premature mortality. We sought to determine if tissue Doppler imaging (TDI) could identify Fabry disease patients at risk for the development of cardiomyopathy and if enzyme replacement therapy (ERT) with agalsidase alfa might slow or prevent the progression of cardiac involvement. METHODS AND RESULTS: Fabry disease patients were enrolled in this prospective, observational study. Echocardiography was performed at baseline and periodically throughout the study. A single investigator, blinded to both the type of assessment (baseline or follow-up) and enzyme replacement status of the patient, evaluated all echocardiograms. Seventy-six patients (26 male, 50 females) were enrolled in the study. Twenty men and 13 women were treated with agalsidase alfa during the study. At baseline, increasing interventricular septum thickness was significantly associated with decreasing TDI velocities. Twenty-nine patients >18 years old (23 females) had no evidence of cardiac involvement at baseline (normal LVM and normal TDI velocities). In this cohort, 80% (16 of 20) of patients not on ERT progressed to demonstrating an abnormal TDI velocity during follow-up, whereas only 33% (3 of 9) of patients on ERT progressed to TDI abnormalities (P= 0.031). CONCLUSION: In Fabry disease, reduced TDI velocity seems to be the initial sign of cardiac involvement that occurs before the development of cardiac hypertrophy. ERT with agalsidase alfa delays the onset of cardiac involvement and should be considered at an earlier stage of the disease, even in the absence of left ventricular hypertrophy. SN - 1532-2114 UR - https://www.unboundmedicine.com/medline/citation/21810826/Usefulness_of_tissue_Doppler_on_early_detection_of_cardiac_disease_in_Fabry_patients_and_potential_role_of_enzyme_replacement_therapy__ERT__for_avoiding_progression_of_disease_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=21810826.ui DB - PRIME DP - Unbound Medicine ER -