Jervell and Lange-Nielsen syndrome (case report) Jervell and Lange-Nielsen syndrome (prolonged QT interval and hearing loss)

Abstract

Jervell and Lange-Nielsen syndrome (congenital LQTS and hearing loss) isa rare inherited disorder characterized by deafness present at birth (congenital) occurring in association with abnormalities affecting the electrical system of the heart , Iron-deficient anemia and elevated levels of gastrin are also frequent features of JLNS1. The severity of cardiac symptoms associated with Jervell and Lange-Nielsen syndrome varies from case to case. Some individuals may have no apparent symptoms (asymptomatic); others may develop abnormally increased heartbeats (tachyarrhythmias) resulting in episodes of syncope, cardiac arrest, and potentially sudden death. Physical activity, excitement or stress may trigger the onset of these symptoms. Jervell and Lange-Nielsen syndrome is usually detected during early childhood and is inherited as an autosomal recessive trait.2