What is Jervell And Lange-Nielsen Syndrome

Jervell and Lange-Nielsen Syndrome (JLNS) is a rare genetic disorder that affects the heart and hearing. It is characterized by a prolonged QT interval on an electrocardiogram (ECG), which can lead to life-threatening arrhythmias and sudden cardiac arrest. Individuals with JLNS also experience sensorineural hearing loss, typically starting in childhood.

The main symptoms of JLNS include: fainting spells, seizures, dizziness, and palpitations. These symptoms are a result of abnormal electrical activity in the heart, which disrupts its normal rhythm. The severity of symptoms can vary among affected individuals.

JLNS is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to be affected. The condition is caused by mutations in the KCNQ1 or KCNE1 genes, which are involved in the regulation of potassium channels in the heart.

Early diagnosis and treatment are crucial to manage the cardiac and hearing aspects of JLNS. Treatment options may include medication, implantation of a pacemaker or implantable cardioverter-defibrillator (ICD), and hearing aids or cochlear implants for hearing loss.

It is important for individuals with JLNS to receive regular medical monitoring and genetic counseling to understand the risks and implications for themselves and their families.