JERVELL AND LANGE-NIELSEN SYNDROME
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ALTERNATE NAMES
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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; LQTS
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DESCRIPTION
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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.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: The diagnosis of JLNS is established by:
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Audiologic evaluation for extent of hearing loss (congenital sensorineural deafness);
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Cardiac examination including electrocardiogram (ECG) calculation of long QTc interval
(greater than 500 msecs);milliseconds (msec); and
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Genetic testing for the presence of mutations in either KCNQ1 or KCNE1 genes.
Physical findings: JLNS is characterized by:
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Congenital profound bilateral sensorineural hearing loss; and
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Long QTc interval greater than 500 msec.
ICD-9: 426.82
ICD-10: I45.81
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PROGRESSION
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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.
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TREATMENT
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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.
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SUGGESTED PROGRAMMATIC
ASSESSMENT* |
Suggested MER for Evaluation:
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Clinical history and examination that describes the diagnostic features of the impairment;
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Complete otologic examination and audiometric testing within 2 months of the otologic
examination; and
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Clinical description of the arrhythmias and response to medication, implanted pacemaker,
or implanted cardiac defibrillator; and response to episodes of syncope or near syncope.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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2.10 A or B
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Listing level severity must be documented.
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2.11 A or B
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Listing level severity must be documented. |
4.05
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Listing level severity must be documented. |
102.10
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Listing level severity must be documented. |
102.11
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Listing level severity must be documented. |
104.05
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Listing level severity must be documented. |
Equals
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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