| Autor: |
Yuen LK; Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Laichikok, Hong Kong. keikei62@i-cable.com, Lam CW, Fong NC, Tang PM, Shek CC, Chan YW, Chow CB |
| Jazyk: |
angličtina |
| Zdroj: |
Hong Kong medical journal = Xianggang yi xue za zhi [Hong Kong Med J] 2004 Oct; Vol. 10 (5), pp. 351-4. |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
|
