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Jervell and Lange-Nielsen Syndrome

Jervell and Lange-Nielsen Syndrome Causes

Jervell and Lange-Nielsen syndrome is caused by changes in the nucleotide sequence (mutation) in the KCNE1 and KNCQ1 genes; the function of these genes is critical in maintaining normal inner ear and cardiac muscle functions.

Jervell and Lange-Nielsen Syndrome Definition

Jervell and Lange-Nielsen syndrome is a rare medical condition; a type of Long QT syndrome. The disorder causes the muscles of the heart takes longer than average to recharge after every heartbeat. Once left untreated, the irregular heartbeats can lead to fainting and seizure attacks. Worse scenario would be sudden death. It is an autosomal recessive disorder that may cause loss of hearing (deafness).

Jervell and Lange-Nielsen Syndrome Diagnosis

Diagnosis of Jervell and Lange Nielsen syndrome is confirmed after going through a series of diagnostic workups, which may include a combination or all of the following: urinalysis, CBC, EKG, chest x-ray, chemistry panel, glucose tolerance test (GTT), thyroid profile. History and physical exam may also be useful in identifying the etiology of the disorder.

Jervell and Lange-Nielsen Syndrome Symptoms and Signs

People suffering from Jervell and Lange-Nielsen syndrome experiences deafness because the disorder contributes to hearing loss. Other dominant symptoms may include a combination or all of the following: fainting, seizures, paleness, blue/purple skin (cyanosis), deep sleep, longer heartbeat interval, and hyperchromic anemia.

Jervell and Lange-Nielsen Syndrome Treatment

There is no specific treatment for the disorder itself, treatment is only based on the management of the underlying condition. For example, medical management is performed during cardiac arrhythmic attacks; while other abnormalities in the heart are treated through case-to-case basis.

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