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Jervell and Lange-Nielsen Syndrome

Abstract

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NORD is very grateful to Theresa Lai, NORD Editorial Intern from the University of Notre Dame, and Professor Lisbeth Tranebjærg, MD, PhD, Department of Audiology, Bispebjerg Hospital, Copenhagen, Denmark, for assistance in the preparation of this report.

Synonyms of Jervell and Lange-Nielsen Syndrome

  • autosomal recessive long QT syndrome (LQTS)
  • cardioauditory syndrome
  • cardioauditory syndrome of Jervell and Lange-Nielsen
  • deafness, congenital, and functional heart disease
  • Jervell and Lange-Nielsen (JLNS)
  • surdocardiac syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Summary
Jervell and Lange-Nielsen syndrome (JLNS) is a rare inherited disorder characterized by deafness present at birth (congenital) occurring in association with abnormalities affecting the electrical system of the heart. The severity of cardiac symptoms associated with JLNS varies from case to case. Some individuals may have no apparent symptoms (asymptomatic); others may develop abnormally increased heartbeats (tachyarrhythmias) resulting in episodes of unconsciousness (syncope), cardiac arrest, and potentially sudden death. Physical activity, excitement, fright, or stress may trigger the onset of these symptoms. Fainting during the aforementioned activities is also a classic sign of JLNS. JLNS is usually detected during early childhood and is inherited as an autosomal recessive genetic disorder. More than half of the untreated cases of JLNS result in death before the age of 15.

Introduction
Anton Jervell and Fred Lange-Nielsen provided the first complete description of the electrical conduction problem in the heart called long QT syndrome (LQTS) in 1957. LQTS refers to the QT-interval measured on the electrocardiogram that indicates that the heart muscle is taking longer than usual to recharge between beats. It predisposes those affected to tachyarrhythmias called torsade de pointes (TdP) which leads to syncope and may cause sudden cardiac death.

Organizations related to Jervell and Lange-Nielsen Syndrome

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