A 4-year-old boy with congenital profound bilateral sensorineural hearing loss has had two episodes of exertional syncope. ECG shows a corrected QT interval of 520 ms. His mother reports a cousin who died suddenly during swimming. Which syndrome must be excluded before cochlear implantation?

• A Usher syndrome type 1
• B Waardenburg syndrome type 1
• C Jervell and Lange-Nielsen syndrome ✓
• D Treacher Collins syndrome

Explanation

Jervell and Lange-Nielsen syndrome combines congenital profound sensorineural hearing loss with cardiac repolarization abnormality (long QT syndrome) due to KCNQ1 or KCNE1 potassium channel mutations. It predisposes to syncopal attacks and sudden cardiac death, so every deaf child with syncope needs an ECG. The other listed syndromes cause hearing loss with retinal, pigmentary, or craniofacial features but no arrhythmia risk.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.