Jervell-Lange Nielsen Syndrome: A Case Report
Abstract
There is a rare genetic disorder called Jervell-Lange Nielsen syndrome that leaves people congenitally deaf and with a long QT interval. This can lead to deadly heart rhythm problems and sudden death. For the treatment of hearing loss, cochlear implants, and for the treatment of heart difficulties, beta-blockers, and in certain circumstances, implantable cardioverter defibrillators, arrhythmias, syncope attacks, and sudden death are recommended. We discuss the case of an 8-year-old child who was referred for cochlear implantation after being diagnosed with Jervell-Lange Nielsen syndrome. In this study, we want to deal with patient management preoperatively and during surgery and describe the side effect of this syndrome.
[1] Kumar M, Baidya DK, Mohan VK, Mamta. Safe anesthesia management protocol of a child with congenital long QT syndrome and deafness (Jervell and lange-nielsen syndrome) for cochlear implant surgery. Saudi J Anaesth. 2015; 9(1):98-9.
[2] Jervell A, Lange-Nielsen F. Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death. Am Heart J. 1957; 54(1):59-68.
[3] Mandavia R, Knight A, Carter AW, Toal C, Mossialos E, Littlejohns P, et al. What are the requirements for developing a successful national registry of auditory implants? A qualitative study. BMJ Open. 2018; 8:e021720.
[4] Vojdani S, Amirsalari S, Milanizadeh S, Molaei F, Ajalloueyane M, Khosravi A, et al. Mutation Screening of KCNQ1 and KCNE1 Genes in Iranian Patients with Jervell and Lange-Nielsen Syndrome. Fetal Pediatr Pathol 2019; 38:273-81.
[5] Giudicessi JR, Ackerman MJ. Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. Circ Cardiovasc Genet. 2013; 6:193–200.
[6] Zhang R, Ding C, Wang H. Treatment on arrhythmia electric storm in a Jervell and Lange-Nielsen syndrome patient by ablation of the triggering premature ventricular contraction: a case report. Ann Palliat Med. 2021; 10(4):4938-4943.
[7] Faridi R, Tona R, Brofferio A, Hoa M, Olszewski R, Schrauwen I, et al. Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. Hum Mutat. 2019; 40:162-76.
[8] Uysal F, Turkgenc B, Toksoy G, Bostan OM, Evke E, Uyguner O, et al. Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports. BMC Med Genet. 2017; 18(1):114.
[9] Adadi N, Lahrouchi N, Bouhouch R, Fellat I, Amri R, Alders M, et al. Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report. J Med Case Rep. 2017; 11(1):88.
[10] Tranebjærg L, Samson RA, Green GE. Jervell and Lange-Nielsen Syndrome. 2002 Jul 29 [updated 2017 Aug 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
[11] Amirian A, Zafari Z, Dalili M, Saber S, Karimipoor M, Dabbagh Bagheri S, et al. Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange-Nielsen syndrome in 2 Iranian families. J Arrhythm. 2018; 34(3):286-290.
[12] Metcalfe C, Muzaffar J, Monksfield P, Bance M. Outcomes of Cochlear Implantation in Patients with Jervell and Lange-Nielsen Syndrome: A Systematic Review and Narrative Synthesis. J Int Adv Otol. 2020;16(3):456-462.
[13] Sato A, Hasegawa Y, Haniu H, Shiraishi S, Yagihara N, Iijima K, et al. Replacement of an Implantable Cardioverter-Defibrillator (ICD) with a New Standard Subcutaneous ICD System in a Patient with Jervell and Lange-Nielsen Syndrome. Int Heart J. 2019; 60(5):1206-1210.
[14] Früh A, Siem G, Holmström H, Døhlen G, Haugaa KH. The Jervell and Lange-Nielsen syndrome; atrial pacing combined with ß-blocker therapy, a favorable approach in young high-risk patients with long QT syndrome? Heart Rhythm. 2016; 13(11):2186-2192.
[15] Pabba K, Chakraborty RK. Jervell and Lange-Nielsen Syndrome. 2023 Aug 28. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025;
[16] Goldenberg I, Moss AJ, Zareba W, McNitt S, Robinson JL, Qi M, et al. Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome. J Cardiovasc Electrophysiol. 2006; 17(11):1161-8.
[2] Jervell A, Lange-Nielsen F. Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death. Am Heart J. 1957; 54(1):59-68.
[3] Mandavia R, Knight A, Carter AW, Toal C, Mossialos E, Littlejohns P, et al. What are the requirements for developing a successful national registry of auditory implants? A qualitative study. BMJ Open. 2018; 8:e021720.
[4] Vojdani S, Amirsalari S, Milanizadeh S, Molaei F, Ajalloueyane M, Khosravi A, et al. Mutation Screening of KCNQ1 and KCNE1 Genes in Iranian Patients with Jervell and Lange-Nielsen Syndrome. Fetal Pediatr Pathol 2019; 38:273-81.
[5] Giudicessi JR, Ackerman MJ. Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. Circ Cardiovasc Genet. 2013; 6:193–200.
[6] Zhang R, Ding C, Wang H. Treatment on arrhythmia electric storm in a Jervell and Lange-Nielsen syndrome patient by ablation of the triggering premature ventricular contraction: a case report. Ann Palliat Med. 2021; 10(4):4938-4943.
[7] Faridi R, Tona R, Brofferio A, Hoa M, Olszewski R, Schrauwen I, et al. Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. Hum Mutat. 2019; 40:162-76.
[8] Uysal F, Turkgenc B, Toksoy G, Bostan OM, Evke E, Uyguner O, et al. Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports. BMC Med Genet. 2017; 18(1):114.
[9] Adadi N, Lahrouchi N, Bouhouch R, Fellat I, Amri R, Alders M, et al. Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report. J Med Case Rep. 2017; 11(1):88.
[10] Tranebjærg L, Samson RA, Green GE. Jervell and Lange-Nielsen Syndrome. 2002 Jul 29 [updated 2017 Aug 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
[11] Amirian A, Zafari Z, Dalili M, Saber S, Karimipoor M, Dabbagh Bagheri S, et al. Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange-Nielsen syndrome in 2 Iranian families. J Arrhythm. 2018; 34(3):286-290.
[12] Metcalfe C, Muzaffar J, Monksfield P, Bance M. Outcomes of Cochlear Implantation in Patients with Jervell and Lange-Nielsen Syndrome: A Systematic Review and Narrative Synthesis. J Int Adv Otol. 2020;16(3):456-462.
[13] Sato A, Hasegawa Y, Haniu H, Shiraishi S, Yagihara N, Iijima K, et al. Replacement of an Implantable Cardioverter-Defibrillator (ICD) with a New Standard Subcutaneous ICD System in a Patient with Jervell and Lange-Nielsen Syndrome. Int Heart J. 2019; 60(5):1206-1210.
[14] Früh A, Siem G, Holmström H, Døhlen G, Haugaa KH. The Jervell and Lange-Nielsen syndrome; atrial pacing combined with ß-blocker therapy, a favorable approach in young high-risk patients with long QT syndrome? Heart Rhythm. 2016; 13(11):2186-2192.
[15] Pabba K, Chakraborty RK. Jervell and Lange-Nielsen Syndrome. 2023 Aug 28. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025;
[16] Goldenberg I, Moss AJ, Zareba W, McNitt S, Robinson JL, Qi M, et al. Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome. J Cardiovasc Electrophysiol. 2006; 17(11):1161-8.
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| Issue | Article in Press |
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| Section | Case Report(s) | |
| Keywords | ||
| Cochlear implantation Sensorineural hearing loss Jervell and lange-nielsen syndrome Long QT syndrome | ||
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How to Cite
1.
Asgari S, Hosseininasab SSM, Behnaz F. Jervell-Lange Nielsen Syndrome: A Case Report. Arch Anesth & Crit Care. 2025;.
