title: Cochlear implantation is safe and effective in patients with MYH9-related disease.
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.
authors: Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Piazzale Golgi, 27100 Pavia, Italy. alessandro.pecci@unipv.it.
authors: Alessandro
authors: A
authors: Pecci
authors: Eva J J
authors: EJ
authors: Verver
authors: Nicole
authors: N
authors: Schlegel
authors: Pietro
authors: P
authors: Canzi
authors: Carlos M
authors: CM
authors: Boccio
authors: Helen
authors: H
authors: Platokouki
authors: Eike
authors: E
authors: Krause
authors: Marco
authors: M
authors: Benazzo
authors: Vedat
authors: V
authors: Topsakal
authors: Andreas
authors: A
authors: Greinacher
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003054:Cochlear Implants; D006319:Hearing Loss, Sensorineural / Q000503:physiopathology / Q000601:surgery*; D006801:Humans; D013921:Thrombocytopenia / Q000151:congenital* / Q000503:physiopathology / Q000601:surgery; D055815:Young Adult