Clinical and genetic analysis of long QT syndrome in two Malay children
- Author:
Abdul Rahim Wong
;
Zilfalil Bin Alwi
;
Zahurul A. Bhuiyan
- Publication Type:Case Reports
- From:
The Medical Journal of Malaysia
2019;74(4):341-343
- CountryMalaysia
- Language:English
-
Abstract:
Long QT syndrome (LQTS) is predominantly a genetic
cardiac arrhythmia disorder. We report here our study on
long QT syndrome from two children from Kelantan,
Malaysia. Clinical and genetic findings of these two
unrelated Malay children with LQTS is discussed. We found
a Long QT, type 1 causal mutation, p.Ile567Thr in the KCNQ1
gene in the first child. A pathogenic mutation could not be
detected in the second child, explaining the heterogeneity of
this disease.
- Full text:6.2019.my1449.pdf