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

Orphanet Journal of Rare Diseases

Andreas Greinacher⁵  Vedat Topsakal⁴  Marco Benazzo⁷  Eike Krause⁶  Helen Platokouki²  Carlos M Boccio⁸  Pietro Canzi⁷  Nicole Schlegel³  Eva JJ Verver⁴  Alessandro Pecci¹ 

[1] Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Piazzale Golgi, 27100 Pavia, Italy;Haemophilia Centre and Haemostasis Unit, Aghia Sophia Children’s Hospital, Athens, Greece;Service d’Hématologie Biologique and National Reference Center on Inherited Platelet Disorders, Robert-Debré Hospital, Paris, France;Department of Otorhinolaryngology and Head & Neck Surgery, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands;Institut für Immunologie und Transfusionsmedizin, Ernst-Moritz-Arndt-Universität, Greifswald, Germany;Department of Otorhinolaryngology, Head and Neck Surgery, Ludwig-Maximilian-University, Munich, Germany;Department of Otorhinolaryngology, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy;Department of Otorhinolaryngology, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina

关键词: Non-muscle myosin;    May-Hegglin anomaly;    Epstein syndrome;    Fetchner syndrome;    Cochlear implantation;    Inherited thrombocytopenia;    Genetic deafness;    MYH9-related disease;   

Others  :  861429
DOI  :  10.1186/1750-1172-9-100

 received in 2014-05-06, accepted in 2014-06-19,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Pecci et al.; licensee BioMed Central Ltd.

【 图 表 】

【 参考文献 】

• [1]Kelley MJ, Jawien W, Ortel TL, Korczak JF: Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nat Genet 2000, 26:106-108.
• [2]Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d’Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA: Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes The May-Hegglin/Fechtner Syndrome Consortium. Nat Genet 2000, 26:103-105.
• [3]Balduini CL, Pecci A, Savoia A: Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. Br J Haematol 2011, 154:161-174.
• [4]Pecci A, Biino G, Fierro T, Bozzi V, Mezzasoma A, Noris P, Ramenghi U, Loffredo G, Fabris F, Momi S, Magrini U, Pirastu M, Savoia A, Balduini C, Gresele P, Italian Registry for MYH9-releated diseases: Alteration of liver enzymes is a feature of the MYH9-related disease syndrome. PLoS One 2012, 7:e35986.
• [5]Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A: MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore) 2003, 82:203-215.
• [6]Althaus K, Greinacher A: MYH-9 Related Platelet Disorders: Strategies for Management and Diagnosis. Transfus Med Hemother 2010, 37:260-267.
• [7]Kunishima S, Saito H: Advances in the understanding of MYH9 disorders. Curr Opin Hematol 2010, 17:405-410.
• [8]Pecci A, Klersy C, Gresele P, Lee KJ, De Rocco D, Bozzi V, Russo G, Heller PG, Loffredo G, Ballmaier M, Fabris F, Beggiato E, Kahr WH, Pujol-Moix N, Platokouki H, Van Geet C, Noris P, Yerram P, Hermans C, Gerber B, Economou M, De Groot M, Zieger B, De Candia E, Fraticelli V, Kersseboom R, Piccoli GB, Zimmermann S, Fierro T, Glembotsky AC, et al.: MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations. Hum Mutat 2014, 35:236-247.
• [9]Sekine T, Konno M, Sasaki S, Moritani S, Miura T, Wong WS, Nishio H, Nishiguchi T, Ohuchi MY, Tsuchiya S, Matsuyama T, Kanegane H, Ida K, Miura K, Harita Y, Hattori M, Horita S, Igarashi T, Saito H, Kunishima S: Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. Kidney Int 2010, 78:207-214.
• [10]De Rocco D, Zieger B, Platokouki H, Heller PG, Pastore A, Bottega R, Noris P, Barozzi S, Glembotsky AC, Pergantou H, Balduini CL, Savoia A, Pecci A: MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations. Eur J Med Genet 2013, 56:7-12.
• [11]Vicente-Manzanares M, Ma X, Adelstein RS, Horwitz AR: Non-muscle myosin II takes centre stage in cell adhesion and migration. Nat Rev Mol Cell Biol 2009, 10:778-790.
• [12]Lalwani AK, Goldstein JA, Kelley MJ, Luxford W, Castelein CM, Mhatre AN: Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. Am J Hum Genet 2000, 67:1121-1128.
• [13]Mhatre AN, Li Y, Atkin G, Maghnouj A, Lalwani AK: Expression of Myh9 in the mammalian cochlea: localization within the stereocilia. J Neurosci Res 2006, 84:809-18.
• [14]Lalwani AK, Atkin G, Li Y, Lee JY, Hillman DE, Mhatre AN: Localization in stereocilia, plasma membrane, and mitochondria suggests diverse roles for NMHC-IIa within cochlear hair cells. Brain Res 2008, 1197:13-22.
• [15]Eddinger TJ, Meer DP: Myosin II isoforms in smooth muscle: heterogeneity and function. Am J Physiol Cell Physiol 2007, 293:C493-508.
• [16]Hildebrand MS, de Silva MG, Gardner RJ, Rose E, de Graaf CA, Bahlo M, Dahl HH: Cochlear implants for DFNA17 deafness. Laryngoscope 2006, 116:2211-2215.
• [17]Nishiyama N, Kawano A, Kawaguchi S, Shirai K, Suzuki M: Cochlear implantation in a patient with Epstein syndrome. Auris Nasus Larynx 2013, 40:409-412.
• [18]Lalwani AK, Linthicum FH, Wilcox ER, Moore JK, Walters FC, San Agustin TB, Mislinski J, Miller MR, Sinninger Y, Attaie A, Luxford WM: A five-generation family with late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration. Audiol Neurootol 1997, 2:139-154.
• [19]Savoia A, De Rocco D, Panza E, Bozzi V, Scandellari R, Loffredo G, Mumford A, Heller PG, Noris P, De Groot MR, Giani M, Freddi P, Scognamiglio F, Riondino S, Pujol-Moix N, Fabris F, Seri M, Balduini CL, Pecci A: Heavy chain myosin 9-related disease (MYH9-RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. Thromb Haemost 2010, 103:826-832.
• [20]Saposnik B, Binard S, Fenneteau O, Nurden A, Nurden P, Hurtaud-Roux MF, Schlegel N, on behalf of the French MYH9 network: Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-related disorders. Mol Genet Genomic Med 2014. in press
• [21]Verver E, Pecci A, De Rocco D, Ryhänen S, Barozzi S, Kunst H, Topsakal V, Savoia A: R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17. Clin Genet 2014. [Epub ahead of print]
• [22]Greinacher A, Nieuwenhuis HK, White JG: Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions. Blut 1990, 61:282-8.
• [23]Kunishima S, Matsushita T, Kojima T, Sako M, Kimura F, Jo EK, Inoue C, Kamiya T, Saito H: Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. Lab Invest 2003, 83:115-122.
• [24]Boezaart AP, van der Merwe J, Coetzee A: Comparison of sodium nitroprusside- and esmolol-induced controlled hypotension for functional endoscopic sinus surgery. Can J Anaesth 1995, 42:373-376.
• [25]Eppsteiner RW, Shearer AE, Hildebrand MS, Deluca AP, Ji H, Dunn CC, Black-Ziegelbein EA, Casavant TL, Braun TA, Scheetz TE, Scherer SE, Hansen MR, Gantz BJ, Smith RJ: Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis. Hear Res 2012, 292:51-58.
• [26]Blamey P, Arndt P, Bergeron F, Bredberg G, Brimacombe J, Facer G, Larky J, Lindström B, Nedzelski J, Peterson A, Shipp D, Staller S, Whitford L: Factors affecting auditory performance of postlinguistically deaf adults using cochlear implants. Audiol Neurootol 1996, 1:293-306.
• [27]Blamey P, Artieres F, Başkent D, Bergeron F, Beynon A, Burke E, Dillier N, Dowell R, Fraysse B, Gallégo S, Govaerts PJ, Green K, Huber AM, Kleine-Punte A, Maat B, Marx M, Mawman D, Mosnier I, O’Connor AF, O’Leary S, Rousset A, Schauwers K, Skarzynski H, Skarzynski PH, Sterkers O, Terranti A, Truy E, Van de Heyning P, Venail F, Vincent C: Factors affecting auditory performance of postlinguistically deaf adults using cochlear implants: an update with 2251 patients. Audiol Neurootol 2013, 18:36-47.
• [28]Cohen NL: Cochlear implant candidacy and surgical considerations. Audiol Neurootol 2004, 9:197-202.
• [29]Lazard DS, Vincent C, Venail F, Van de Heyning P, Truy E, Sterkers O, Skarzynski PH, Skarzynski H, Schauwers K, O’Leary S, Mawman D, Maat B, Kleine-Punte A, Huber AM, Green K, Govaerts PJ, Fraysse B, Dowell R, Dillier N, Burke E, Beynon A, Bergeron F, Başkent D, Artières F, Blamey PJ: Pre-, peri- and postoperative factors affecting performance of postlinguistically deaf adults using cochlear implants: a new conceptual model over time. PLoS One 2012, 7:e48739.
• [30]Sun XH, Wang ZY, Yang HY, Cao LJ, Su J, Yu ZQ, Bai X, Ruan CG: Clinical, pathological, and genetic analysis of ten patients with MYH9-related disease. Acta Haematol 2013, 129:106-113.
• [31]Althaus K, Greinacher A: MYH9-related platelet disorders. Semin Thromb Hemost 2009, 35:189-203.
• [32]Noris P, Klersy C, Zecca M, Arcaini L, Pecci A, Melazzini F, Terulla V, Bozzi V, Ambaglio C, Passamonti F, Locatelli F, Balduini CL: Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia. J Thromb Haemost 2009, 7:2131-2136.
• [33]Liumbruno G, Bennardello F, Lattanzio A, Piccoli P, Rossetti G, Italian Society of Transfusion Medicine and Immunohaematology (SIMTI) Work Group: Recommendations for the transfusion of plasma and platelets. Blood Transfus 2009, 7:132-50.
• [34]Miyagawa M, Nishio SY, Ikeda T, Fukushima K, Usami S: Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS. PLoS One 2013, 8:e75793.
• [35]Shearer AE, Black-Ziegelbein EA, Hildebrand MS, Eppsteiner RW, Ravi H, Joshi S, Guiffre AC, Sloan CM, Happe S, Howard SD, Novak B, Deluca AP, Taylor KR, Scheetz TE, Braun TA, Casavant TL, Kimberling WJ, Leproust EM, Smith RJ: Advancing genetic testing for deafness with genomic technology. J Med Genet 2013, 50:627-634.
• [36]Shearer AE, DeLuca AP, Hildebrand MS, Taylor KR, Gurrola J 2nd, Scherer S, Scheetz TE, Smith RJ: Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci USA 2010, 107:21104-21109.
• [37]Schrauwen I, Sommen M, Corneveaux JJ, Reiman RA, Hackett NJ, Claes C, Claes K, Bitner-Glindzicz M, Coucke P, Van Camp G, Huentelman MJ: A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing. Am J Med Genet A 2013, 161A:145-152.