Jervell and Lange-Nielsen syndrome

Jervell and Lange-Nielsen syndrome is a rare type of genetic disorder that affects the electrical activity of the heart. It is characterized by congenital deafness and a type of arrhythmia known as long QT syndrome.

Symptoms

The primary symptoms of Jervell and Lange-Nielsen syndrome are profound bilateral sensorineural hearing loss and an abnormal heart rhythm (arrhythmia). The hearing loss, which is present from birth, is severe enough to be classified as deafness. The arrhythmia can cause episodes of tachycardia (a fast heart rate), palpitations, fainting, and sudden death.

Causes

Jervell and Lange-Nielsen syndrome is caused by mutations in the KCNQ1 or KCNJ2 genes. These genes provide instructions for making proteins that form channels across cell membranes. The channels transport positively charged atoms (ions) in and out of cells, which is critical for maintaining the heart's normal rhythm.

Diagnosis

The diagnosis of Jervell and Lange-Nielsen syndrome is based on the presence of congenital deafness and a prolonged QT interval on an electrocardiogram (ECG). Genetic testing can confirm the diagnosis.

Treatment

Treatment for Jervell and Lange-Nielsen syndrome typically involves medications to prevent arrhythmias, such as beta blockers. In some cases, an implantable cardioverter defibrillator (ICD) may be needed.

Prognosis

The prognosis for individuals with Jervell and Lange-Nielsen syndrome varies. With appropriate treatment, many individuals can live relatively normal lives. However, without treatment, the condition can be life-threatening.

See also

• Long QT syndrome
• Congenital deafness
• Genetic disorder
• Arrhythmia

References

Jervell and Lange-Nielsen syndrome Resources
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