Otological Features of Patients with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variants in CHST14 (mcEDS-CHST14)

Musculocontractural Ehlers–Danlos syndrome (EDS) caused by pathogenic variants in CHST14 (mcEDS-CHST14) is a subtype of EDS characterized multisystem malformations and progressive fragility-related manifestations. A recent international collaborative study showed that 55% mcEDS-CHST14 patients had hearing loss (HL), more commonly the high-frequency type. Here, we report first systemic investigation otological features with this disorder based on world’s largest cohort at Shinshu University Hospital. Nine [18 ears; four male five female patients; mean age, 18 years old (range, 10–28)] underwent comprehensive evaluation: audiogram, distortion product otoacoustic emission (DPOAE) test, tympanometry. The available all ears, HL eight (8/9, 89%) 14 ears (14/18, 78%): bilateral six (6/9, 67%) unilateral two (2/9, 22%); mild (8/18, 44%) moderate (6/18, 33%); (5/18, 28%) low-frequency 28%). An air-bone gap was detected one ear (1/18, 6%). DPOAE 13 presence response (5/13, 38%) absence (8/13, 62%), including three normal hearing. Tympanometry results were 12 ears: Ad type nine (9/12, 75%) As (1/12, 8.3%). Patients high prevalence HL, typically sensorineural bilateral, to severity, or type, sometimes no response. pathophysiology underlying might be complex, presumably related alterations tectorial membrane and/or basilar Corti associated disorganized collagen fibril networks. Regular careful check-ups using multiple modalities are recommended for patients.