Jervell and Lange-Nielsen syndrome

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Obesity, Sleep & Internal medicine
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Jervell and Lange-Nielsen syndrome
File:Jervell and Lange-Nielsen features.jpg
Synonyms	JLNS
Pronounce
Specialty	Cardiology, Otolaryngology
Symptoms	Congenital deafness, syncope, sudden cardiac arrest
Complications	Ventricular arrhythmias, sudden death
Onset	Childhood
Duration	Lifelong
Types
Causes	Genetic mutation in KCNQ1 or KCNE1 genes
Risks
Diagnosis	Electrocardiogram, genetic testing
Differential diagnosis	Romano-Ward syndrome, Long QT syndrome
Prevention
Treatment	Beta blockers, implantable cardioverter-defibrillator (ICD)
Medication	Beta blockers
Prognosis	Variable, risk of sudden death without treatment
Frequency	Rare
Deaths

Autosomal recessive inheritance pattern

File:PMC5376485 Adadi 2017 Jervell Lange Nielsen ECG.jpg

ECG of a patient with Jervell and Lange-Nielsen syndrome

File:PMC2322962 Zhang 2008 Comparison of normal, Romano-Ward and Jervell-Lange-Nielsen ECGs in same family.jpg

Comparison of normal, Romano-Ward, and Jervell-Lange-Nielsen ECGs in the same family

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