Jervell and Lange-Nielsen syndrome
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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 | |
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[edit]
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[edit]
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[edit]
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[edit]
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[edit]
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[edit]
References[edit]
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