Author(s)
Alexandra O. Hamberis, BS
Charmee H. Mehta, BSPH
Thomas Valente, BS
James Dornhoffer, MD
Shaun A. Nguyen, MD
Ted A. Meyer, MD PhD
Affiliation(s)
Otolaryngology, Med. Univ. of South Carolina, Charleston, SC.
Abstract:
Introduction: While hearing loss (HL) has been described in patients with Marfan syndrome (MS), its etiology has not been well established. While bony deformities of MS are thought to contribute to conductive HL, less is known about the prevalence of sensorineural and mixed HL, severity, and progression of HL. The objectives of this study were to describe the prevalence, type, severity, and progression of HL in children with Marfan Syndrome, and to evaluate the influence of comorbidities.
Methods: Retrospective case series of children with Marfan Syndrome. Demographic, otologic, and medical data from 2011 to 2018 were extracted from the AudGen Database.
Results: Of 74 children (63.5% male, median age: 6.7 [IQR: 4.2-12.2] with MS, 47 children (63.5%) had HL with 21.1% of at least moderate severity. Type of hearing loss among 82 ears with hearing loss was 29.6% conductive, 6.2% sensorineural, and 22.2% mixed HL. Of 37 ears with median follow-up of 1.5 years [IQR 0.5-2.5], the majority (78.4%) showed no change over time, while 16.2% showed improvement and only 5.4% showed a decline. Among children with MS, 37.8% had aortic vasculature anomalies, 37.8% had joint disorders, 36.5% with scoliosis, and 5.4% had lens subluxation. None of these features were associated with increased prevalence or severity of HL. Additionally, 24.3% had facial bone anomalies, which was associated with increased prevalence of HL (p=0.022), but not with increased severity. Regarding otologic comorbidities, 36.5% of children had Eustachian tube dysfunction, 29.7% chronic otitis media (COM), and 25.7% acute otitis media. Only children with COM were more likely to have HL (p=0.017).
Conclusions: HL is prevalent in children with MS, with severity of loss remaining stable, at least over a short follow-up period. Many common MS comorbidities were not associated with hearing loss. Both facial bone anomalies and COM were associated with hearing loss. In addition to bony deformities that are known to contribute to conductive loss, the prevalence of mixed deficits suggests other etiologies of HL.