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1: Hong Kong Med J. 2004 Oct;10(5):351-4.Click here to read Links
Erratum in:
Hong Kong Med J. 2005 Feb;11(1):69. Lam, CW [added]; Chan, YW [added].

Jervell-Lange Nielsen syndrome in a Pakistani family.

Yuen LK, Lam CW, Fong NC, Tang PM, Shek CC, Chan YW, Chow CB.

Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Laichikok, Hong Kong. keikei62@i-cable.com

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.

PMID: 15479966 [PubMed - indexed for MEDLINE]