Jervell Lange Nielsen Syndrome (JLNS) is a rare genetic disorder characterized by a combination of profound hearing loss and a heart condition called long QT syndrome. Named after Norwegian physicians Anton Jervell and Fred Lange-Nielsen, who first described the syndrome in the 1950s, JLNS is an autosomal recessive disorder, meaning that both copies of the gene carrying the mutation must be inherited from both parents for the syndrome to manifest.
The hearing loss in JLNS is present from birth and is bilateral and severe to profound, often requiring hearing aids or cochlear implants for treatment. Individuals with JLNS may experience difficulty in speech development, communication, and educational aspects associated with hearing impairment.
The long QT syndrome component of JLNS affects the electrical system of the heart, causing abnormal rhythms and episodes of fainting or seizures due to an increased risk of life-threatening arrhythmias. These individuals are at higher risk for sudden cardiac arrest, especially during physical exertion or emotional stress.
Diagnosis of Jervell Lange Nielsen Syndrome involves genetic testing to identify the specific genetic mutation responsible for the disorder. Treatment primarily focuses on managing the symptoms, such as addressing the hearing impairment through hearing aids or cochlear implants and utilizing medications and interventions to regulate the heart's electrical activity and reduce the risk of arrhythmias.
Due to its rarity and complexity, Jervell Lange Nielsen Syndrome requires a multidisciplinary approach involving medical geneticists, cardiologists, otolaryngologists, and other specialists to provide comprehensive care and support for affected individuals and their families.
