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Echocardiographic and clinical findings in patients with Fabry disease during long-term enzyme replacement therapy: a nationwide Danish cohort study.
Scand Cardiovasc J. 2017 Aug; 51(4):207-216.SC

Abstract

OBJECTIVES

In patients with Fabry disease (FD), left ventricular hypertrophy and arrhythmias are frequently observed and cardiac involvement is the leading cause of death. Long-term efficacy of enzyme replacement therapy (ERT) on cardiac involvement is unclear. We assessed and compared long-term progression of cardiac involvement according to ERT and non-ERT.

METHODS

We retrospectively assessed and compared long-term progression of cardiac involvement in adult patients with FD in the nationwide Danish cohort. We followed clinical signs, symptoms and findings by echocardiography, electrocardiography and Holter-monitoring.

RESULTS

We included 66 patients; 47 patients (27 women) received ERT (ERT group) and 19 patients (15 women) did not (non-ERT group). The groups were followed for a median of 8 [0-12] years and 6 [0-13] years, respectively. Comparison between ERT and non-ERT receiving patients by left ventricular mass (echocardiographic assessment) and Sokolow-Lyon voltage- and Cornell product criteria (electrocardiographic assessment) revealed no significant differences. In the ERT group, we observed no change in left ventricular mass but a decrease in Sokolow-Lyon voltage- and Cornell product criteria from baseline to follow-up; 30 mm [15-53] vs. 25 mm [3-44], p < 0.005 and 1710 mm·ms [480-3740] vs. 1520 mm·ms [550-5740], p < .05, respectively. There were no changes within the non-ERT group. During follow-up, cardiac symptoms and use of cardiovascular procedures and -medication increased significantly in the ERT group, whereas no differences were observed within the non-ERT group.

DISCUSSION

We raise concerns regarding the efficacy and benefit of ERT on cardiac involvement in Fabry disease and stress the need for further research.

Authors+Show Affiliations

a Department of Medical Endocrinology , Copenhagen University Hospital, Rigshospitalet , Copenhagen , Denmark.b Department of Cardiology, Unit for Inherited Cardiac Diseases , Copenhagen University Hospital, Rigshospitalet , Copenhagen , Denmark.a Department of Medical Endocrinology , Copenhagen University Hospital, Rigshospitalet , Copenhagen , Denmark.c Department of Nephrology , Copenhagen University Hospital, Rigshospitalet , Copenhagen , Denmark.d Department of Public Health, Section of Biostatistics , University of Copenhagen , Copenhagen , Denmark.e Department of Cardiology , Copenhagen University Hospital, Rigshospitalet , Copenhagen , Denmark.a Department of Medical Endocrinology , Copenhagen University Hospital, Rigshospitalet , Copenhagen , Denmark.e Department of Cardiology , Copenhagen University Hospital, Rigshospitalet , Copenhagen , Denmark.

Pub Type(s)

Comparative Study
Journal Article

Language

eng

PubMed ID

28545342

Citation

Madsen, Christoffer Valdorff, et al. "Echocardiographic and Clinical Findings in Patients With Fabry Disease During Long-term Enzyme Replacement Therapy: a Nationwide Danish Cohort Study." Scandinavian Cardiovascular Journal : SCJ, vol. 51, no. 4, 2017, pp. 207-216.
Madsen CV, Bundgaard H, Rasmussen ÅK, et al. Echocardiographic and clinical findings in patients with Fabry disease during long-term enzyme replacement therapy: a nationwide Danish cohort study. Scand Cardiovasc J. 2017;51(4):207-216.
Madsen, C. V., Bundgaard, H., Rasmussen, Å. K., Sørensen, S. S., Petersen, J. H., Køber, L., Feldt-Rasmussen, U., & Petri, H. (2017). Echocardiographic and clinical findings in patients with Fabry disease during long-term enzyme replacement therapy: a nationwide Danish cohort study. Scandinavian Cardiovascular Journal : SCJ, 51(4), 207-216. https://doi.org/10.1080/14017431.2017.1332383
Madsen CV, et al. Echocardiographic and Clinical Findings in Patients With Fabry Disease During Long-term Enzyme Replacement Therapy: a Nationwide Danish Cohort Study. Scand Cardiovasc J. 2017;51(4):207-216. PubMed PMID: 28545342.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Echocardiographic and clinical findings in patients with Fabry disease during long-term enzyme replacement therapy: a nationwide Danish cohort study. AU - Madsen,Christoffer Valdorff, AU - Bundgaard,Henning, AU - Rasmussen,Åse Krogh, AU - Sørensen,Søren Schwartz, AU - Petersen,Jørgen Holm, AU - Køber,Lars, AU - Feldt-Rasmussen,Ulla, AU - Petri,Helle, Y1 - 2017/05/25/ PY - 2017/5/27/pubmed PY - 2017/9/7/medline PY - 2017/5/27/entrez KW - Fabry disease KW - enzyme replacement therapy KW - familial cardiomyopathies KW - hypertrophic cardiomyopathy SP - 207 EP - 216 JF - Scandinavian cardiovascular journal : SCJ JO - Scand. Cardiovasc. J. VL - 51 IS - 4 N2 - OBJECTIVES: In patients with Fabry disease (FD), left ventricular hypertrophy and arrhythmias are frequently observed and cardiac involvement is the leading cause of death. Long-term efficacy of enzyme replacement therapy (ERT) on cardiac involvement is unclear. We assessed and compared long-term progression of cardiac involvement according to ERT and non-ERT. METHODS: We retrospectively assessed and compared long-term progression of cardiac involvement in adult patients with FD in the nationwide Danish cohort. We followed clinical signs, symptoms and findings by echocardiography, electrocardiography and Holter-monitoring. RESULTS: We included 66 patients; 47 patients (27 women) received ERT (ERT group) and 19 patients (15 women) did not (non-ERT group). The groups were followed for a median of 8 [0-12] years and 6 [0-13] years, respectively. Comparison between ERT and non-ERT receiving patients by left ventricular mass (echocardiographic assessment) and Sokolow-Lyon voltage- and Cornell product criteria (electrocardiographic assessment) revealed no significant differences. In the ERT group, we observed no change in left ventricular mass but a decrease in Sokolow-Lyon voltage- and Cornell product criteria from baseline to follow-up; 30 mm [15-53] vs. 25 mm [3-44], p < 0.005 and 1710 mm·ms [480-3740] vs. 1520 mm·ms [550-5740], p < .05, respectively. There were no changes within the non-ERT group. During follow-up, cardiac symptoms and use of cardiovascular procedures and -medication increased significantly in the ERT group, whereas no differences were observed within the non-ERT group. DISCUSSION: We raise concerns regarding the efficacy and benefit of ERT on cardiac involvement in Fabry disease and stress the need for further research. SN - 1651-2006 UR - https://www.unboundmedicine.com/medline/citation/28545342/Echocardiographic_and_clinical_findings_in_patients_with_Fabry_disease_during_long_term_enzyme_replacement_therapy:_a_nationwide_Danish_cohort_study_ L2 - http://www.tandfonline.com/doi/full/10.1080/14017431.2017.1332383 DB - PRIME DP - Unbound Medicine ER -