Jervell-Lange Nielsen syndrome in a Pakistani family.
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.
Yuen
L K
LK
Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Laichikok, Hong Kong. keikei62@i-cable.com
Lam
C W
CW
Fong
N C
NC
Tang
P M
PM
Shek
C C
CC
Chan
Y W
YW
Chow
C B
CB
D000319:Adrenergic beta-Antagonists / Q000627:therapeutic use; D004562:Electrocardiography; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D029593:Jervell-Lange Nielsen Syndrome / Q000175:diagnosis* / Q000188:drug therapy / Q000503:physiopathology
D000319:Adrenergic beta-Antagonists