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The right ventricle in Fabry disease: natural history and impact of enzyme replacement therapy
  1. Markus Niemann1,
  2. Frank Breunig1,
  3. Meinrad Beer2,
  4. Sebastian Herrmann1,
  5. Jörg Strotmann1,
  6. Kai Hu1,
  7. Andrea Emmert1,
  8. Wolfram Voelker1,
  9. Georg Ertl1,
  10. Christoph Wanner1,
  11. Frank Weidemann1
  1. 1Department of Internal Medicine I/Center of Cardiovascular Disease, University of Wuerzburg, Germany
  2. 2Institute of Radiology, University of Wuerzburg, Germany
  1. Correspondence to Frank Weidemann, Medizinische Klinik und Poliklinik I, Zentrum für Innere Medizin, Oberdürrbacher Str. 6, Würzburg 97080, Germany; weidemann_f{at}medizin.uni-wuerzburg.de

Abstract

Background Storage of globotriaosylceramides is present in the left and right ventricles of patients with Fabry disease. Improvement of left ventricular morphology and function during enzyme replacement therapy (ERT) has previously been reported.

Objectives To analyse the effects of long term ERT on right ventricular morphology and function.

Methods This was a prospective follow-up of 75 genetically confirmed consecutive Fabry patients for 3.1±1.8 years. According to treatment guidelines the natural history was followed in 18 patients, whereas 57 patients received ERT. Standard echocardiography, strain rate imaging for regional deformation of the right and left ventricle, and magnetic resonance tomography with late enhancement (LE) imaging for the detection of fibrosis were all performed at yearly intervals.

Results Right ventricular hypertrophy was evident in 53 patients (71%) at baseline. A significant positive correlation was found between left and right ventricular wall thickness (r=0.76; p<0.0001). LE was detected in half of the patients (n=38) in the left ventricle at baseline while no patient ever had LE of the right ventricle. Patients with LE in the left ventricle presented with the lowest right ventricular deformation properties. In contrast to the left ventricle, there was no change in right ventricular wall thickness (baseline 6.9±1.6 mm vs follow-up 6.7±1.5 mm; p=0.44) or systolic strain rate (2.2±0.7/s vs 2.1±0.8/s; p=0.31) during follow-up with ERT.

Conclusion The degree of right ventricular involvement in Fabry disease is related to the left ventricular cardiomyopathy stage. ERT seems to have no direct impact on right ventricular morphology and function.

  • Fabry disease
  • cardiomyopathy
  • enzyme replacement therapy
  • right ventricle
  • echocardiography
  • cardiomyopathy hypertrophic

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Footnotes

  • Competing interests CW is a member of the European Advisory Board of the Fabry Registry sponsored by Genzyme Corp and has received travel assistance, speaking fees and research support. MN, FW, FB and JS have received speaking fees from Genzyme Corp.

  • Ethics approval The study conformed to the principles outlined in the Declaration of Helsinki and the locally appointed ethics committee has approved the research protocol. Informed consent was obtained from all patients or their guardians.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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