|Year : 2022 | Volume
| Issue : 1 | Page : 94-97
Cochlear implantation in a case of jervell and lange-nielsen syndrome presenting with absence seizure and anemia
Murundi Basavarajaiah Bharathi1, Shankar Medikeri2, Sandhya Dharmarajan1, Kumar Shankar De1
1 Department of ENT and Head and Neck Surgery, JSS Medical College, JSS Academy of Higher Education and Research, Mysore, India
2 Medikeri's Super Speciality ENT Center, Bengaluru, Karnataka, India
|Date of Submission||25-Nov-2021|
|Date of Acceptance||03-Jan-2022|
|Date of Web Publication||25-Apr-2022|
Dr. Murundi Basavarajaiah Bharathi
Department of ENT and Head and Neck Surgery, JSS Hospital, Agrahara Circle, Mysore - 570 004, Karnataka
Source of Support: None, Conflict of Interest: None
Here, we describe the case of a pediatric patient who presented with an episode of absence seizures and was later diagnosed to have Jervell and Lange-Nielsen syndrome (JLNS) and underwent cochlear implantation (CI). A 4-year-old male child born out of a third degree consanguineous marriage presented with congenital profound sensorineural hearing loss and an episode of absence seizures. Electrocardiogram showed a prolonged QT interval of 509 ms. The patient subsequently underwent CI. Here, we outline the challenges anticipated and the precautions to be taken when performing implantation on a patient with JLNS. JLNS is a rare autosomal recessive form of congenital long QT syndrome associated with congenital sensorineural deafness and a high incidence of sudden cardiac death in childhood. Patients with JLNS face added intra- and postoperative challenges during CI which require multidisciplinary and intensive care unit care.
Keywords: Beta-blockers, cochlear implantation, deaf child, Jervell and Lange-Nielsen syndrome, QT prolongation, sensorineural hearing loss
|How to cite this article:|
Bharathi MB, Medikeri S, Dharmarajan S, De KS. Cochlear implantation in a case of jervell and lange-nielsen syndrome presenting with absence seizure and anemia. Indian J Otol 2022;28:94-7
|How to cite this URL:|
Bharathi MB, Medikeri S, Dharmarajan S, De KS. Cochlear implantation in a case of jervell and lange-nielsen syndrome presenting with absence seizure and anemia. Indian J Otol [serial online] 2022 [cited 2022 May 27];28:94-7. Available from: https://www.indianjotol.org/text.asp?2022/28/1/94/343755
| Introduction|| |
Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive congenital long QT syndrome (LQTS) associated with congenital sensorineural hearing loss (SNHL) and a high incidence of sudden childhood cardiac death. First described in 1957 by Jervell and Lange-Nielsen, it is caused by KCNQ1 and KCNE1 gene mutations coding for proteins regulating potassium flow in the heart and inner ear.
Associated cardiac events include syncope or sudden death due to ventricular tachycardia, ventricular fibrillation, and Torsade des Pointes (TdP).,,
LQTS has added intra and postoperative challenges, from anesthetic complication of sympathomimetic drugs or drugs that cause QT prolongation, to ventricular tachycardia by electrical stimulation while switching on the implant. A high degree of suspicion with a multidisciplinary approach is mandatory in children with prolonged QTc or a history of syncope.
Here, we present the case of JLNS who presented to us with absence seizures and anemia and subsequently underwent cochlear implantation (CI).
| Case Report|| |
The significant details of the patient's history are listed in [Table 1].
Audiometry showed >90 dB hearing loss, without improvement after 6 months of hearing aid trial. High-resolution computed tomography and magnetic resonance imaging showed no middle or inner ear abnormality, with normal 7th and 8th nerve complexes.
Blood investigations revealed a hemoglobin level of 8 g/dl with microcytic hypochromic anemia, for which one pint of packed RBC by weight was transfused and iron and folate supplements were started. He was immunized for Haemophilus influenza B and Pneumococcus to prevent postoperative meningococcal infections.
Electrocardiogram (ECG) showed a QTc interval of 509 ms [Figure 1], with a normal two-dimensional echo, and a provisional diagnosis of JLNS was arrived at. The patient was started on Propranolol (5 mg 8th hourly) and calcium-phosphorous supplementation 8th hourly. The patient was on monthly follow-ups for 3 months to stabilize QTc and had no additional seizure episodes. He finally presented with a QTc interval of 483 ms [Figure 2] and was admitted for surgery, after appropriate clearance.
Parents underwent genetic counseling regarding risk of deafness and QTc prolongation in any future offspring but did not undergo genetic testing due to financial constraints.
The patient was premedicated with intravenous (IV) ramosteron 0.1 mg, midazolam 0.3 mg, and glycopyrrolate 0.1 mg. He was induced with propofol 4 mg IV and muscle relaxant used was vecuronium. Maintenance after intubation was with N2O: O2 ratio of 2:1 and isoflurane 0.6%–1%. Defibrillator was kept ready along with magnesium sulfate. Monitoring was done to avoid lighter planes of anesthesia, inadequate analgesia, hypertension, hypercapnia, and hypothermia. Left CI under general anesthesia using round window insertion of electrodes was done. Electrocautery was avoided to prevent external electrical stimulus. Incision was closed with absorbable sutures and subcuticular sutures were used for skin to avoid pain on suture removal. X-ray (Modified Stenver's view) taken postoperatively confirmed electrode placement.
The postoperative mainstays include adequate analgesia and cardiac monitoring. The patient underwent continuous cardiac monitoring, along with bedside defibrillators in the cardiac care unit (CCU) for 3 days postoperatively. Propranolol was continued, with IV 3rd generation cephalosporins (to prevent surgical site infections) and a combination of diclofenac and paracetamol for analgesia. The patient was discharged after 5 days on oral antibiotics, oral and nasal decongestants, and Propranolol.
Switching on the implant
Implant was switched on 2 weeks after surgery. This was done under cardiac monitoring, with a standby defibrillator, in the CCU under a supervising pediatric cardiologist, pediatrician, anesthesiologist, and otorhinolaryngologist, with staff from the speech and hearing department [Figure 3]. The patient was under observation for 3 h post switch-on because initial stimulation can trigger adrenergic stimuli.
|Figure 3: Switching on the implant in the intensive coronary care unit with cardiac monitoring|
Click here to view
The patient developed two more episodes of seizures 2 weeks after switch on, which subsided on their own. Electroencephalogram and CT brain were normal. The maximum comfortable level (MCL) for the implant was reduced, with a reduced dynamic range. Once the patient was stable with no further episodes, the MCL was increased to preseizure levels. Following this, the patient tolerated the implant well without further episodes and underwent regular habilitation.
At the end of 24 months, he had a categories of auditory performance score of 5 (preoperative score was 0), and a speech intelligibility rating of 4 (preoperative score being 1).
| Discussion|| |
Four types of congenital LQTS are: Romano-Ward syndrome More Details, JLNS, Andersen syndrome, and Timothy syndrome. Twenty separate genes encoding for ion channels and associated proteins have been implicated in congenital LQTS. Most cases are caused by KCNQ1, KCNH2, or SCN5A mutations. JLNS is caused by KCNQ1 and KCNE1 mutations which are responsible for LQTS Type 1 and 5, respectively. They encode proteins regulating potassium flow in the heart and inner ear, resulting in SNHL.
A diagnosis is made in a QTc > 480 ms in children and > 500 ms in adults, but a male showing > 470 ms and a female showing > 480 ms are considered borderline and additional tests should be performed.,
JLNS has a prevalence of 0%–2.6% among children with congenital deafness. Other symptoms include iron deficiency anemia and hypergastrinemia which occur due to loss of KCNQ1 potassium channels and reduced gastric acid secretion. Vestibular dysfunction may occur by endolymph homeostasis disruption.
Ninety percent patients become symptomatic and sudden death exceeds 25% despite medical therapy. During the 1st year of life, 15% have had a cardiac event. Only 5% patients approach adulthood without cardiac events.
Syncope, aborted cardiac arrest, or sudden death (due to ventricular tachycardia, ventricular fibrillation and TdP) may be seen. Most involve sympathetic activation and are represented by exercise (competitive sports, swimming, roller coasters, horror films, and jumping into cold water), and intense emotions. Auditory stimuli (in post CI patients) such as alarm clocks or telephone bells and anesthesia and fever are also triggers.,,
Beta-blockers decrease cardiac events from 0.97 to 0.31 events/patient/year and mitigate overall mortality from 50% to < 5% in symptomatic patients. Patients with a history of aborted cardiac arrest, patients symptomatic in the 1st year of life, and patients carrying KCNQ1 mutations comprise high risk groups requiring implantable cardioverter defibrillator (ICD) and left cardiac sympathetic denervation.
Patients should be made aware of drugs to avoid (known to cause QT prolongation or are sympathomimetic), and undergo lifestyle modification counseling to avoid physical and emotional stress. Parents should be counseled about similar afflictions in future progeny. A history of recurrent seizures/syncope and SNHL should be investigated to avoid misdiagnosis as intractable epilepsy. Family history of seizures, syncope, prolonged QTc, and SNHL should be evaluated. The implant itself is not known to trigger arrhythmias, but syncopal attacks causing head trauma may damage the implant transducer. A light-weight helmet is advised to prevent this. In patients with implanted cardioverters, the cochlear implant does not have any effect on the cardioverter because of the distance between the devices.
Electrolyte levels should be optimized preoperatively since hypokalemia, hypokalcemia, and hypomagnesemia are implicated in QT prolongation. Potassium > 4.5 mmol/liter and magnesium > 2 mg/dl are the recommended safe levels.
Intraoperative management aims at obtunding excessive sympathetic activity and avoiding factors that prolong QTc. If patient has an ICD, tachyarrhythmia therapy should be programmed off and defibrillation pads should be placed as a precaution before induction. Hypoxia, hypercarbia, hypothermia, and dyselectrolytemia are to be avoided. Premedication with midazolam to allay anxiety is recommended. Intraoperative TdP is treated with magnesium sulfate (30 mg/kg bolus followed by 2–4 mg/kg infusion), asynchronous defibrillation or temporary pacing. Reversal with anticholinesterase-anticholinergic combination is done cautiously since bradycardia can prolong QT interval and atropine triggered TdP has been documented. Extubation in the surgical plane of anesthesia in a calm environment is advised to prevent arrhythmias.
Chorbachi et al. recommend a thorough cardiac work up with an optimized dose of beta-blockers before patient is induced. Siem et al. reported on 8 children with JLNS who underwent CI, out of which 6 survived on follow-up, with good auditory results. A negative family history, without obvious signs of QTc does not rule out JLNS, as barring SNHL, patients may be asymptomatic. Thus, 12 lead ECG necessary in all cases. Although the implant should not increase the risk for arrhythmias, one cannot completely rule out the possibility of it being a possible trigger. 7 of Siem's cases had anemia on presentation. In case bilateral CI is planned, a single-stage procedure is advised, but the length of surgery should be taken into consideration. The wound should closed by intracutaneous resorbable sutures.
| Conclusion|| |
Patients presenting with congenital SNHL should be thoroughly evaluated for any underlying co-morbidities, with a mandatory 12-lead ECG. History of seizures/syncope, family history of deafness, consanguineous marriage, and sudden death should be elicited. Disequilibrium, anemia, and dyselectrolytemia should be corrected. Patients diagnosed with JLNS should be started on beta-blockers, and if the QTc does not improve or if patient is still symptomatic, ICD or left cardiac sympathetic denervation should be considered. The child should be stable before being taken up for CI. Intraoperative monitoring, bedside defibrillator paddle, and magnesium sulfate should be ready for any intraoperative event. Adequate analgesia should be provided. Postoperatively and during switching on, continuous cardiac monitoring is imperative. MCL level of implant should be gradually increased as the patient develops tolerance. Parents should be exhaustively counseled about the risk of mortality and complications during or after implantation. Lifestyle modification counseling, avoidance of strenuous activities, and drugs to avoid should be stressed upon. Patients should be on regular follow-up for QTc monitoring and to be on the lookout for future cardiac events.
Informed written consent was obtained from patient's parents.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his/her consent for his/her images and other clinical information to be reported in the journal. The patient understands that his/her name and initial will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
We would like to acknowledge all our operating room sisters and paramedical staff who have helped us during the procedures, and our institution for its constant encouragement and support.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Eftekharian A, Mahani MH. Jervell and Lange-Nielsen syndrome in cochlear implanted patients: Our experience and a review of literature. Int J Pediatr Otorhinolaryngol 2015;79:1544-7.
Jervell A, Lange-Nielsen F. Congenital deaf-mutism, functional heart disease with prolongation of the QT interval, and sudden death. Am Heart J 1957;54:59-68.
Siem G, Früh A, Leren TP, Heimdal K, Teig E, Harris S. Jervell and Lange-Nielsen syndrome in Norwegian children: Aspects around cochlear implantation, hearing, and balance. Ear Hear 2008;29:261-9.
Denjoy I, Lupoglazoff JM, Villain E, Vaksmann G, Godart F, Lucet V, et al.
The Jervell and Lange-Nielsen syndrome. Natural history, molecular basis and clinical outcome. Arch Mal Coeur Vaiss 2007;100:359-64.
Chorbachi R, Graham JM, Ford J, Raine CH. Cochlear implantation in Jervell and Lange-Nielsen syndrome. Int J Pediatr Otorhinolaryngol 2002;66:213-21.
Hedley PL, Jørgensen P, Schlamowitz S, Wangari R, Moolman-Smook J, Brink PA, et al.
The genetic basis of long QT and short QT syndromes: A mutation update. Hum Mutat 2009;30:1486-511.
Campuzano O, Sarquella-Brugada G, Cesar S, Carro E, Fernandez-Falgueras A, Brugada J, et al
. Update on genetic basis of long QT syndrome. Hum Genet Dis 2017:2-31.
Tranebjærg L, Samson RA, Green GE. Jervell and Lange-Nielsen Syndrome. In: GeneReviews®. University of Washington, Seattle, Seattle (WA); 1993. PMID: 20301579.
Mizusawa Y, Horie M, Wilde AA. Genetic and clinical advances in congenital long QT syndrome. Circ J 2014;78:2827-33.
O'Hare M, Maldonado Y, Munro J, Ackerman MJ, Ramakrishna H, Sorajja D. Perioperative management of patients with congenital or acquired disorders of the QT interval. Br J Anaesth 2018;120:629-44.
[Figure 1], [Figure 2], [Figure 3]