Echocardiographic and clinical findings in patients with Fabry disease during long-term enzyme replacement therapy: a nationwide Danish cohort study. (4th July 2017)

• Record Type: Journal Article
• Authors: Madsen, Christoffer Valdorff; Bundgaard, Henning; Rasmussen, Åse Krogh; Sørensen, Søren Schwartz; Petersen, Jørgen Holm; Køber, Lars; Feldt-Rasmussen, Ulla; Petri, Helle
• Is Part Of: Scandinavian cardiovascular journal. Volume 51:Number 4(2017:Aug.)
• Page Start: 207
• Page End: 216
• Publication Date: 2017-07-04
• Subjects: Fabry disease -- familial cardiomyopathies -- hypertrophic cardiomyopathy -- enzyme replacement therapy; Cardiovascular system -- Diseases -- Periodicals; 617.41
• DOI: 10.1080/14017431.2017.1332383
• Languages: English
• ISSNs: 1401-7431

Abstract

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.