What is Jervell And Lange Nielsen Syndrome & How is it Treated?

What Is Jervell And Lange Nielsen Syndrome?

Jervell and Lange - Nielsen Syndrome is an passing rare inherited morbid condition which is characterized by congenital deafness and abnormalities in the electric activity of the heart . The severity of the cardiac abnormality differs from individual to individual depending on the acuity of the condition .

While some individuals with Jervell and Lange - Nielsen Syndrome may be whole asymptomatic others may have important symptoms ranging from abnormally increased heartbeats causing red ink of consciousness or even in some cases cardiac hitch .

These symptoms may be trigger off by any character of emphasis or excitement which may result in sharp red of consciousness . These symptom usually start from early childhood and follows an autosomal recessionary trait mean that two copies of the faulty gene necessitate to be inherited from each parent for a tyke to develop Jervell and Lange - Nielsen Syndrome .

What Are The Causes Of Jervell And Lange Nielsen Syndrome?

It is believe that the main cause of Jervell and Lange - Nielsen Syndrome is mutation of two genes KCNQ1 and KCNE1 . The mutation of these genes result in production of a dysfunctional protein which is passing vital for right electrical operation of the cochlea which is the inner part if the capitulum and the centre .

If the electrical activity of these two function is impaired then the electrical impulses from these parts are not able-bodied to be carried to the brain resulting in the abnormalities within the spike and the heart with hear defects and cardiac abnormalities which are classic for Jervell and Lange - Nielsen Syndrome .

It is an autosomal recessive disorderliness meaning that two copy of the faulty cistron inherited from each parent is required for a baby to get Jervell and Lange - Nielsen Syndrome .

What Are The Symptoms Of Jervell And Lange Nielsen Syndrome?

The symptoms of Jervell and Lange - Nielsen Syndrome start from early childhood with the shaver having difficulty hearing . This hearing shortage may be present at the time of birth or may develop as the child geezerhood . The hearing defect is because of the inability of the auditory nerve to beam sensory data to the brain due to the electrical abnormality cause by Jervell and Lange - Nielsen Syndrome .

to boot , there are cardiac abnormalities in which the minor will have perennial episode of good deliquium or syncope mean partial or thoroughgoing loss of knowingness . These episodes may be activated by any natural action which may excite or startle the shaver such as a sudden auditory sensation of headphone ringing and the comparable .

In some case , the child may go into ventricular fibrillation which can potentially be life imperil . In some cases , there may be no particular campaign for the child having syncopal episodes due to Jervell and Lange - Nielsen Syndrome .

How Is Jervell And Lange Nielsen Syndrome Diagnosed?

A thoroughgoing aesculapian and clinical valuation will be conducted to begin with so as to diagnose Jervell and Lange - Nielsen Syndrome . An EKG will also be done to check the electrical activity of the fondness which in pillowcase of Jervell and Lange - Nielsen Syndrome will be abnormal . This finding coupled with the hearing shortage is a practical give away confirming the diagnosis of Jervell and Lange - Nielsen Syndrome .

In addition , a genetic examination may be conducted which will clearly show mutation of the genes KCNQ1 and KCNE1 which will definitively sustain the diagnosing of Jervell and Lange - Nielsen Syndrome .

How Is Jervell And Lange Nielsen Syndrome Treated?

The mainstay of treatment for Jervell and Lange - Nielsen Syndrome is treating the hearing personnel casualty and the cardiac mental defectiveness as much as possible . The discourse is purely symptomatic and supportive .

Hearing attention may be supply for get word deficits . to boot , a cochlear implant can be very effective in treating hearing deficit due to Jervell and Lange - Nielsen Syndrome .

To keep any serious threats such as cardiac arrests or syncopal episodes the child should be observe away from any upshot which may induce stress to the tiddler or cause the fry to get startled like pick out the child for a pic , participating in sporting activity , and making the baby emotional .

to boot , medications will be provided to keep the trice in bank check so that it may not go out of control and make a syncopal case . Beta blockers are given for cardiac irregularity . The most favored medications for controlling this condition are atenolol and Inderal .

These medications will minify the work load on the core and control a lot of the symptoms . In certain cases where beta blockers are not effective in hold in the symptoms then a procedure in which a twist call ICD which stands for automatic cardioverter - defibrillator is grade to temper the electrical activity of the heart as much as possible .

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