Jervell-Lange Nielsen syndrome in a Pakistani family

Hong Kong Med J. 2004 Oct;10(5):351-4.

Abstract

Congenital long QT syndrome is a rare hereditary disease that is related to the dysfunction of ion channels in cardiac cells. We report on a very rare case of its autosomal recessive form--the Jervell-Lange Nielsen syndrome--in a Pakistani family, which was diagnosed after the incidental finding of bradycardia in a newborn baby girl. We discuss the range of presentations in neonates; the importance of strong suspicion of the syndrome and family screening; the use of the diagnostic criteria and genetic tests; and the different management strategies.

Publication types

  • Case Reports

MeSH terms

  • Adrenergic beta-Antagonists / therapeutic use
  • Electrocardiography
  • Female
  • Humans
  • Infant, Newborn
  • Jervell-Lange Nielsen Syndrome / diagnosis*
  • Jervell-Lange Nielsen Syndrome / drug therapy
  • Jervell-Lange Nielsen Syndrome / physiopathology

Substances

  • Adrenergic beta-Antagonists