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

Abstract

BackgroundMYH9-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.MethodsBy 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.ResultsNine 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.ConclusionsCI 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.

Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease

“…Consequences in clinical practice are relevant for development of personalized, genotype-driven clinical management. We recently reported that cochlear implantation is effective in restoring hearing function and verbal communication ability in patients with MYH9-RD and severe to profound SNHL (Pecci et al 2014b). We also observed that as with other forms of postlingual SNHL, the duration of deafness before implantation negatively affects cochlear implant performance (Blamey et al 1996(Blamey et al , 2013.…”

Inherited thrombocytopenias in the era of personalized medicine

“…3 Finally, cochlear implant should be offered early to patients with MYH9-RD who develop deafness because the timely application of this device greatly improves their hearing capacity. 15 As far as management of bleeding tendency is concerned, the important news is that thrombopoietin mimetic eltrombopag increases platelet count in most patients with MYH9 mutations. 16 As a matter of fact, this drug is beginning to be used in place of platelet transfusions in order to prepare subjects with MYH9-RD for elective surgery.…”

Acta Otorhinolaryngologica Italica

“…Figure 1 shows pure-tone audiometry before surgery (patients 1, 2 and 3) or during the last followup (patient 4). In all cases CI was safe and effective in improving the hearing ability, without any perioperative bleeding complications after prophylactic platelet transfusions 26 . The CI electrode array was inserted through the round window in all cases.…”

“…When severe to profound deafness occurs, performing a proper etiological diagnosis of deafness may have implications for prognostic assessment, patient counselling and treatment. Given that MYH9 mutations primarily damage hair cells, the finding that most MYH9-RD patients have excellent cochlear implantation (CI) outcomes is consistent with the NMMHC-IIA expression pattern observed in animals 26 . A correct diagnosis of MYH9-RD may help surgical decision-making due to hearing benefits related to CI in this specific genetic disorder.…”