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Published on: January 9, 2019
Cochlear implantation is safe and effective in patients with MYH9-related disease
Alessandro Pecci1, Eva J J Verver, Nicole Schlegel
1Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Piazzale Golgi, 27100 Pavia, Italy. alessandro.pecci@unipv.it.
Insights
Cochlear implantation (CI) is safe and effective for most patients with MYH9-related disease (MYH9-RD) and severe deafness. Early consideration for CI can significantly improve hearing and communication in affected individuals.
Area of Science:
- Genetics and Audiology
- Rare Diseases
- Medical Devices
Background:
- MYH9-related disease (MYH9-RD) causes thrombocytopenia, giant platelets, and progressive sensorineural deafness.
- Hearing loss in MYH9-RD significantly impacts quality of life, making cochlear implantation (CI) a potential intervention.
- Limited data exists on CI's risk-benefit ratio in MYH9-RD due to prior concerns about bleeding complications.
Purpose of the Study:
- To evaluate the safety and efficacy of cochlear implantation (CI) in patients with MYH9-related disease (MYH9-RD).
- To assess the clinical outcomes and perioperative management of CI in individuals with MYH9-RD and severe to profound deafness.
Main Methods:
- An international co-operative study involving 10 patients with MYH9-RD and severe to profound deafness.
- CI was performed at 8 different institutions, with clinical outcomes and perioperative management analyzed.
Main Results:
- Nine out of ten patients significantly benefited from CI, with eight achieving excellent hearing and communication.
- One patient had suboptimal results due to prolonged deafness duration; another did not benefit.
- No adverse events, including perioperative bleeding complications related to MYH9-RD, were observed.
Conclusions:
- Cochlear implantation (CI) is a safe and effective treatment for the majority of patients with MYH9-RD and severe to profound deafness.
- CI should be considered for MYH9-RD patients once they meet candidacy criteria, aiming for early intervention.
- The study demonstrates that CI can restore hearing function without exacerbating the bleeding risks associated with MYH9-RD.
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.
