A 6-year-old child with congenital sensorineural deafness is found to have marked QT prolongation on ECG. Both parents have normal ECGs. Which statement about this syndrome is correct?

• A Autosomal dominant inheritance due to KCNH2 mutation
• B Autosomal dominant inheritance due to RYR2 mutation
• C X-linked inheritance due to SCN5A mutation
• D Autosomal recessive inheritance due to KCNQ1 or KCNE1 mutation ✓

Explanation

Jervell and Lange-Nielsen syndrome combines congenital long QT with sensorineural deafness. It is autosomal recessive and arises from homozygous loss-of-function mutations in KCNQ1 or KCNE1, the same subunits forming IKs that cause dominantly inherited LQT1. The unaffected heterozygous parents fit recessive inheritance. KCNH2 causes LQT2, SCN5A causes LQT3, and RYR2 causes catecholaminergic polymorphic VT, none associated with deafness.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.