Hong Kong Med J 2004;10:351-4 | Number 5, October 2004
Jervell-Lange Nielsen syndrome in a Pakistani family
LK Yuen, NC Fong, PM Tang, CC Shek, CB Chow
Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Laichikok, Hong Kong
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.
Key words: Infant, newborn; Jervell-Lange Nielsen syndrome; Long QT syndrome
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