Sophie Bartier1,2,3, Diane Bodez2,3,4,5,6, Mounira Kharoubi2,3,6, Aziz Guellich2,3,4,6, Florence Canouï-Poitrine4,7, Véronique Chatelin2,3,8, André Coste1,2,3,4,5,8,9, Thibaud Damy2,3,4,6, Emilie Béquignon1,2,3,4,5,8,9. 1. Department of Oto-Rhino-Laryngo Surgery, Centre Hospitalier Intercommunal de Créteil , Créteil , France. 2. IMRB/INSERM U955, GRC Amyloid Research Institute , Créteil , France. 3. French Referral Centre for Cardiac Amyloidosis & Mondor Amyloidosis Network, Henri Mondor Teaching Hospital , Créteil , France. 4. School of Medicine, University Paris-Est Creteil (UPEC) , Créteil , France. 5. INSERM U955 , Créteil , France. 6. Department of Cardiology, AP-HP, Henri Mondor Teaching Hospital , Créteil , France. 7. Department of Epidemiology and Biostatistics, AP-HPHenri Mondor Teaching Hospital , Créteil , France. 8. Department of Oto-Rhino-Laryngology, AP-Hp, Henri Mondor Teaching Hospital , Créteil , France. 9. CNRS , Créteil , France.
Abstract
Background: Hereditary transthyretin (TTR) related amyloidosis (ATTRv) is a life-threatening condition, which can potentially affect all organs. The objective was to identify the hearing status of patients with cardiac ATTRv and describe their audiological pattern. Methods: Nineteen patients with confirmed diagnosis of ATTRv cardiac amyloidosis (CA) underwent otoscopy and audiological tests, including pure tone and speech audiometry. Results: 74% were male, with a mean age of 72 ± 1.8 years. The main mutations were Val122Ile (n = 7) and Val30Met (n = 6). Objective hearing loss was detected in 17 patients (89%), whereas only 37% complained of hearing loss. ATTRv patients presented a different audiometric profile compared to patients of the same age with presbycusis: a higher prevalence and worse hearing thresholds compared to age-related expectations (ISO). Hearing loss affected all frequencies with, unexpectedly, mixed or conductive hearing loss (35%). According to the type of mutation, there was an increased rate of sensorineural or mixed/conductive hearing loss. Conclusions: the present study indicates that hearing loss is more prevalent and worse in patients with ATTRv amyloidosis than in the general population, while mostly clinically under-estimated. It suggests that ATTRv deposits could infiltrate the various anatomical structures of the inner and mild ear.
Background: Hereditary transthyretin (TTR) related amyloidosis (ATTRv) is a life-threatening condition, which can potentially affect all organs. The objective was to identify the hearing status of patients with cardiac ATTRv and describe their audiological pattern. Methods: Nineteen patients with confirmed diagnosis of ATTRv cardiac amyloidosis (CA) underwent otoscopy and audiological tests, including pure tone and speech audiometry. Results: 74% were male, with a mean age of 72 ± 1.8 years. The main mutations were Val122Ile (n = 7) and Val30Met (n = 6). Objective hearing loss was detected in 17 patients (89%), whereas only 37% complained of hearing loss. ATTRv patients presented a different audiometric profile compared to patients of the same age with presbycusis: a higher prevalence and worse hearing thresholds compared to age-related expectations (ISO). Hearing loss affected all frequencies with, unexpectedly, mixed or conductive hearing loss (35%). According to the type of mutation, there was an increased rate of sensorineural or mixed/conductive hearing loss. Conclusions: the present study indicates that hearing loss is more prevalent and worse in patients with ATTRv amyloidosis than in the general population, while mostly clinically under-estimated. It suggests that ATTRv deposits could infiltrate the various anatomical structures of the inner and mild ear.
Authors: Pranav Chandrashekar; Laith Alhuneafat; Meghan Mannello; Lana Al-Rashdan; Morris M Kim; Jason Dungu; Kevin Alexander; Ahmad Masri Journal: Circ Genom Precis Med Date: 2021-08-31