JERVELL AND LANGE-NIELSEN SYNDROME

ALTERNATE NAMES

Jervell Lange Syndrome; Jervell Nielsen Disease; Nielsen Syndrome; Cardio Auditory Syncope Syndrome; Cardioauditory Syndrome of Jervell and Lange-Nielsen; Surdo Cardiac Syndrome; Long QT Syndrome

DESCRIPTION

Jervell and Lange-Nielsen Syndrome (JLNS) is a condition that occurs when congenital sensorineural hearing loss and long QT syndrome occur together. Long QT syndrome is a heart condition where the heart muscles take longer than usual to recharge between beats, which may lead to arrhythmias. Beginning in early childhood, the irregular heartbeats increase the risk of fainting (syncope) and sudden death. Physical activity, excitement, or stress may trigger the onset of symptoms in children. Mutations in the KCNE1 and KCNQ1 genes cause JLNS.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnostic testing: The diagnosis of JLNS is established by audiologic evaluation for extent of hearing loss (congenital sensorineural deafness); cardiac examination including electrocardiogram (ECG) calculation of long QTc interval (greater than 500 msecs); and genetic testing for the presence of mutations in either KCNQ1 or KCNE1 genes.

Physical findings: JLNS is characterized by congenital profound bilateral sensorineural hearing loss and long QTc greater than 500 msec.

ICD-9: 426.82

ONSET AND PROGRESSION

This disorder is usually detected in early childhood. Fifty percent of individuals with JLNS have cardiac events before age three years. Sudden cardiac death appears to be low in individuals younger than age five years. Early medical therapy is advisable for high-risk individuals and implantable cardioverter defibrillator (ICD) placement should be considered after age five years. More than half of untreated children with JLNS die prior to age 15 years.

TREATMENT

An interdisciplinary team of health care providers usually treat issues associated with JLNS. This team may consist of an otologist or otolaryngologist, cardiologist, audiologist, or speech language pathologist. Individuals with JLNS are prescribed cochlear implants to treat hearing loss; beta adrenergic blockers medications for long QT interval; and ICD placement for individuals with a history of cardiac arrest and/or failure.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

• Clinical history and examination that describes the diagnostic features of the impairment.

• Complete otologic examination and audiometric testing within 2 months of the otologic examination.

• Clinical description of the arrhythmias and response to medication, implanted pacemaker, or implanted cardiac defibrillator; and response to episodes of syncope or near syncope.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

2.10 A or B

2.11 A or B

4.05

102.10 A or B

102.11 A or B

104.05

Listing level severity must be documented.

Medical Equals