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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2014

Open Access 01-12-2014 | Research

Cochlear implantation is safe and effective in patients with MYH9-related disease

Authors: Alessandro Pecci, Eva JJ Verver, Nicole Schlegel, Pietro Canzi, Carlos M Boccio, Helen Platokouki, Eike Krause, Marco Benazzo, Vedat Topsakal, Andreas Greinacher

Published in: Orphanet Journal of Rare Diseases | Issue 1/2014

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Abstract

Background

MYH9-related disease (MYH9-RD) is a rare syndromic disorder deriving from mutations in MYH9, the gene for the heavy chain of non-muscle myosin IIA. Patients present with congenital thrombocytopenia and giant platelets and have a variable risk of developing sensorineural deafness, kidney damage, presenile cataract, and liver abnormalities. Almost all MYH9-RD patients develop the hearing defect, which, in many individuals, progresses to severe to profound deafness with high impact on quality of life. These patients are potential candidates for cochlear implantation (CI), however, no consistent data are available about the risk to benefit ratio of CI in MYH9-RD. The only reported patient who received CI experienced perisurgery complications that have been attributed to concurrent platelet defects and/or MYH9 protein dysfunction.

Methods

By international co-operative study, we report the clinical outcome of 10 patients with MYH9-RD and severe to profound deafness who received a CI at 8 institutions.

Results

Nine patients benefited from CI: in particular, eight of them obtained excellent performances with restoration of a practically normal hearing function and verbal communication abilities. One patient had a slightly worse performance that could be explained by the very long duration of severe deafness before CI. Finally, one patient did not significantly benefit from CI. No adverse events attributable to MYH9-RD syndrome were observed, in particular no perisurgery bleeding complications due to the platelet defects were seen. Patients’ perioperative management is described and discussed.

Conclusions

CI is safe and effective in most patients with MYH9-RD and severe to profound deafness and should be offered to these subjects, possibly as soon as they develop the criteria for candidacy.
Appendix
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Metadata
Title
Cochlear implantation is safe and effective in patients with MYH9-related disease
Authors
Alessandro Pecci
Eva JJ Verver
Nicole Schlegel
Pietro Canzi
Carlos M Boccio
Helen Platokouki
Eike Krause
Marco Benazzo
Vedat Topsakal
Andreas Greinacher
Publication date
01-12-2014
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2014
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/1750-1172-9-100

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