Overview
Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive disorder characterized by congenital profound sensorineural hearing loss and prolonged QT interval on electrocardiogram, often leading to syncopal episodes and sudden death 16.Diagnosis
Genetic Testing: Identification of compound heterozygous or homozygous mutations in the KCNQ1 gene is crucial 15.
Electrocardiogram (ECG): Essential for detecting prolonged QT interval 16.
Clinical Features: Congenital profound hearing loss and potential extra-cardiac manifestations like iron-deficiency anemia and gastrointestinal symptoms 23.
Screening in Congenital Hearing Loss: Routine ECG recommended for children with congenital sensorineural deafness 6.Management
Cardiac Monitoring: Regular ECG monitoring and management by a cardiologist 34.
Medication: Beta-blockers are often used to manage QT prolongation (specific doses not specified in abstracts) 4.
Preventive Measures: Avoidance of triggers that may precipitate arrhythmias 3.
Genetic Counseling: Essential for families with JLNS 1.Special Populations
Pediatrics: High vigilance required due to risk of sudden death; careful preoperative and postoperative cardiac monitoring essential 34.
Comorbidities: Consider iron-deficiency anemia and gastrointestinal symptoms, particularly elevated gastrin levels, requiring appropriate management 2.Key Recommendations
Perform a 12-lead ECG in all children with congenital sensorineural deafness to screen for JLNS (Evidence: Moderate 6).
Conduct genetic analysis focusing on KCNQ1 mutations for confirming JLNS diagnosis (Evidence: Strong 1).
Implement strict cardiac monitoring and management by a cardiologist for patients diagnosed with JLNS, including prophylactic use of beta-blockers (Evidence: Moderate 4).
Screen for and manage extra-cardiac manifestations such as iron-deficiency anemia and gastrointestinal symptoms in JLNS patients (Evidence: Moderate 2).
Exercise caution during and after cochlear implantation procedures due to the risk of sudden cardiac events (Evidence: Weak 3).References
1 Wang C, Lu Y, Cheng J, Zhang L, Liu W, Peng W et al.. Identification of KCNQ1 compound heterozygous mutations in three Chinese families with Jervell and Lange-Nielsen Syndrome. Acta oto-laryngologica 2017. link
2 Winbo A, Sandström O, Palmqvist R, Rydberg A. Iron-deficiency anaemia, gastric hyperplasia, and elevated gastrin levels due to potassium channel dysfunction in the Jervell and Lange-Nielsen Syndrome. Cardiology in the young 2013. link
3 Broomfield SJ, Bruce IA, Henderson L, Ramsden RT, Green KM. Cochlear implantation in children with Jervell and Lange-Nielsen syndrome - a cautionary tale. Cochlear implants international 2012. link
4 Chorbachi R, Graham JM, Ford J, Raine CH. Cochlear implantation in Jervell and Lange-Nielsen syndrome. International journal of pediatric otorhinolaryngology 2002. link00181-7)
5 Tesson F, Donger C, Denjoy I, Berthet M, Bennaceur M, Petit C et al.. Exclusion of KCNE1 (IsK) as a candidate gene for Jervell and Lange-Nielsen syndrome. Journal of molecular and cellular cardiology 1996. link
6 Cusimano F, Martines E, Rizzo C. The Jervell and Lange-Nielsen syndrome. International journal of pediatric otorhinolaryngology 1991. link90096-t)