Jervell and Lange-Nielsen Syndrome

Jervell and Lange-Nielsen Syndrome is a rare genetic disorder that affects the heart and hearing. It causes a type of irregular heartbeat called long QT syndrome, which can lead to fainting, seizures, or sudden death if untreated. Additionally, individuals typically have profound congenital hearing loss from birth. The condition results from mutations in genes that control the heart's electrical activity. It is inherited in an autosomal recessive pattern, meaning a person needs two copies of the faulty gene to be affected. Treatment often includes medications like beta-blockers and implanted devices such as pacemakers to prevent serious heart events.