Co‐Occurrence of Sensorineural Hearing Loss and Congenital Heart Disease: Etiologies and Management

Objectives/Hypothesis The co‐occurrence of sensorineural hearing loss (SNHL) and congenital heart disease (CHD) is a rare condition with complex etiologies. The purpose of this study is to assess the etiologies, clinical features, and outcomes of cochlear implant (CI) in this patient population. Study Design Case series and literature review. Methods Clinical data of children who were diagnosed with SNHL and CHD and received CIs at a tertiary hospital from 2016 to 2021 were retrospectively analyzed. A literature review was performed to identify patients with SNHL and CHD. Findings Of the 382 children who underwent cochlear implantation at our center, eight (2.1%) were diagnosed with SNHL and CHD. A literature review identified 1525 patients from 254 studies; the database therefore consisted of 1533 patients. The most common genetic etiologies of co‐occurring SNHL and CHD were CHARGE syndrome (36.3%), Turner syndrome (8.4%), 22q11.2 deletion (3.0%), Noonan syndrome (2.9%), and Down syndrome (2.5%), whereas the most common non‐genetic etiologies were congenital rubella syndrome (22.9%) and SNHL after early cardiac surgery (5.5%). Most of the patients presented with congenital, bilateral, severe‐profound SNHL requiring early rehabilitation. Of the 126 children who received CIs at a median age of 2.5 years, half showed delayed speech development at last follow‐up. Conclusions Co‐occurring SNHL and CHD is a rare condition with complex etiologies. Timely hearing intervention with long‐term follow‐up and proper timing of heart surgery is essential for these children. Level of Evidence 4, case series Laryngoscope, 134:400–409, 2024 Co‐occurring SNHL and CHD is a rare condition with complex etiologies. In this study, we suggest a workflow for genetic testing of patients with co‐occurring SNHL and CHD. Delay in speech development was commonly reported in these children, thus long‐term follow‐up of hearing and language development is required.