[MIM 220 400, 612 347]

(Long QT with deafness syndrome)

Rare. Autosomal recessive transmission of a mutation of the gene:

-         KCNQ1 on 11p15.5 (JLN type 1) that codes for the subunit α of the ionic channel IKr

-         KCNE1 on 21q 22.1-q22.2 (JLN type 2) that codes for the subunit β of the ionic channel IKs.

Bilateral congenital sensorineural hearing loss (without bone malformation) associated with a congenital long QT resulting in syncope ('torsades de pointe') with risk of sudden death. Triggers: strenuous effort, stress. ECG: QT long (in general > 500 msec), relative bradycardia for age, 'T' wave abnormalities.

Deafness is explained by the presence of these ionic channels at the level of the stria vascularis of the inner ear, the functioning of which is essential to ensure optimal ionic content of endolymph. This deafness responds well to the fitting of cochlear implants.

There are sometimes a hypochromic microcytic anemia and an hypergastrinemia.

Treatment: β-blocker (propranolol or nadolol); if failure: add a pacemaker or a defibrillator; if failure: ablation of sympathetic fibers from Th2 to Th5 as well as the lower part of the left stellate ganglion (by videoscopy)

Anesthetic implications: 

in a deaf child, check that an ECG of long QT testing has been done. See congenital long QT. Gastric protection. Be aware of the treatment by ß-blocking agents (bradycardia, risk of little symptomatic hypoglycemia). Management of a patient with a pacemaker or an internal defibrillator (to be stopped before surgery).

References : 

-        Holland JJ. 
Cardiac arrest under anaesthesia in a child with previously undiagnosed Jervell and Lange-Nielsen syndrome. 
Anaesthesia 1993; 48:149-51.

-         Baines DB, Murrell D. 
Preoperative hypoglycaemia, propranolol and the Jervell and Lange-Nielsen syndrome. 
Pediatr Anesth 1999; 9: 156-8.

-         Yanmei F, Yaqin W, Haibo S, Huiqun Z et al.  
Cochlear implantation in patients with Jervell and Lange-Nielsen syndrome, and review of literature. 
Int J Pediatr Otorhinolaryngol 2008; 72: 1723-9.

-        Roy P, Khanna S, Metha Y, Khan AZ.
Anaesthesia management of a case of Jervell and Lange-Nielsen syndrome for minimally invasive bilateral thoracoscopic cervicothoracic sympathectomy.
Indian J Anaesth 2016; 60: 424-6.

Updated: June 2016