Sunday, September 09, 2012

Jervell and Lange-Nielsen syndrome

Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart's normal rhythm (arrhythmia).

This disorder is a form of long QT syndrome,

GENETICS: Mutations in the KCNE1 and KCNQ1 genes Which Is Voltage Gated Potasium Channel cause Jervell and Lange-Nielsen syndrome.

PATHOGENETICS : Mutations in these two genes will lead to changes that disrupt the flow of K+ in the inner ear and in cardiac muscle, causing hearing loss and an irregular heart rhythm.

TREATMENT : There is No definative treatment.. Patient need cardiologist and ENT opinion.

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