Definition

What is Jervell and Lange-Nielsen syndrome (JLNS)?

Jervell and Lange-Nielsen Syndrome is an extremely rare inherited pathological condition which is characterized by congenital deafness and abnormalities in the electrical activity of the heart.

How common is Jervell and Lange-Nielsen syndrome?

Jervell and Lange-Nielsen syndrome is extremely uncommon. It affects males and females in equal numbers, but females seem to have a lower number of life-threatening events. The prevalence of the disorder is 1 to 6 people per 1,000,000 live births. The disorder has a higher prevalence in Norway as well as Sweden (both are 1 in 200,000). Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Jervell and Lange-Nielsen syndrome?

Symptoms of JLNS are usually apparent during early childhood. Hearing loss is detected at birth or during early childhood. Hearing loss associated with JLNS is caused by the inability of the auditory nerves to transmit sensory information to the brain (sensorineural hearing loss) and affects both ears (bilateral). In JLNS hearing loss is usually profound, but it tends to affect the hearing of high frequencies more than low frequencies.

Low levels of iron and increased levels of gastrin are often present in patients with JLNS, possibly leading to iron deficient anemia.

The most common cardiac symptom associated with JLNS is partial or total loss of consciousness (syncope or fainting) accompanied by abnormally fast heart rhythms known as torsade de pointes (TdPs). TdPs may progress to a more serious condition known as ventricular fibrillation in which the heart’s normal electrical activity becomes disordered resulting uncoordinated heartbeats and malfunction of the main pumping chambers of the heart (ventricles). Consequently, little or no blood is pumped from the heart. Ventricular fibrillation potentially results in cardiac arrest or sudden death.

Symptoms of JLNS such as syncope tend to occur without warning and to recur unexpectedly. Overexertion, excitement or stress may trigger these recurrent symptoms, although they often begin without any particular cause too. In some cases, episodes may be triggered by “startle” events such as an alarm clock going off or the phone ringing in the middle of the night. The severity and frequency of attacks vary. Some people may have mild chest pain with no loss of consciousness; others may lose consciousness completely or have grand mal seizures followed by a period of disorientation. In some cases seizures may be the first presenting cardiac symptom of JLNS. The severity and frequency of episodes often decrease during middle age. The seizures are frequently misdiagnosed as epilepsy and treated accordingly for several years before the correct diagnosis is made.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or you have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Jervell and Lange-Nielsen syndrome?

It is believed that the main cause of Jervell and Lange-Nielsen syndrome is mutation of two genes KCNQ1 and KCNE1. The mutation of these genes results in production of a dysfunctional protein which is extremely vital for proper electrical functioning of the cochlea which is the inner part 0f the ear and the heart.

If the electrical activity of these two parts is impaired then the electrical impulses from these parts are not able to be carried to the brain resulting in the abnormalities within the ear and the heart. (hearing defects and cardiac abnormalities)

It is an autosomal recessive disorder meaning that two copied of the faulty gene inherited from each parent is required for a child to develop Jervell and Lange-Nielsen syndrome.

Risk factors

What increases my risk for Jervell and Lange-Nielsen syndrome?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Jervell and Lange-Nielsen syndrome diagnosed?

A diagnosis of JLNS is made based upon a thorough clinical evaluation, a detailed patient history and a specialized test called an electrocardiogram (ECG or EKG). Children with congenital sensorineural hearing loss, particularly those with an unexplained history of fainting, syncope or sudden cardiac arrest, should be evaluated for JLNS. An electrocardiogram records the heart’s electrical impulses, may reveal abnormal electrical patterns such as a prolonged QT interval characteristic of individuals with JLNS.

A diagnosis can be confirmed through molecular genetic tests that detect disease-specific mutations in the KCNQ1 gene or the KCNE1 gene. Gene sequencing of the KCNQ1 gene is usually performed as a first step since most affected individuals have mutations in this gene.

The diagnosis is crucial to make before anesthesia and surgery, i.e. for insertion of a cochlear implant in congenitally deaf children because of the risk of cardiac severe complications in the case of JLNS.

How is Jervell and Lange-Nielsen syndrome treated?

The mainstay of treatment for Jervell and Lange-Nielsen syndrome is treating the hearing loss and the cardiac abnormalities as much as possible. The treatment is purely symptomatic and supportive.

Hearing aids may be provided for hearing deficits. Additionally, a cochlear implant can be very effective in treating hearing deficit caused by Jervell and Lange-Nielsen syndrome.

Additionally, medications will be provided to keep the heartbeats in check so that it may not go out of control and cause a syncopal event. Beta blockers are given for cardiac abnormalities. The most preferred medications for controlling this condition are atenolol and propanolol. These medications will decrease the workload on the heart and control a lot of the symptoms. In certain cases where beta blockers are not effective in controlling the symptoms then a procedure in which a device called ICD which stands for automatic cardioverter-defibrillator is placed to normalize the electrical activity of the heart as much as possible.

Placement of ICD is always done in conjunction with antiarrhythmia medications to normalize the heart as much as possible in Jervell and Lange-Nielsen syndrome.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Jervell and Lange-Nielsen syndrome?

The following lifestyles and home remedies might help you or your loved one cope with Jervell and Lange-Nielsen syndrome:

To prevent any serious threats such as cardiac arrests or syncopal episodes the child should be kept away from any event which may cause stress to the child or cause the child to get startled.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 5, 2018 | Last Modified: February 5, 2018

Want to live your best life?
Get the Hello Doktor Daily newsletter for health tips, wellness updates and more.