Key result
ECG-guided genetic testing in a large Omani family identified a novel homozygous KCNH2 frameshift mutation in a severely affected proband and 14 asymptomatic heterozygous carriers.
Population
A large Omani family with inherited long QT syndrome, including a 5-year-old female proband with severe LQTS…
Design
Case_series
Authors
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ECG-guided testing may identify concealed LQTS in consanguineous families; leaves open broader utility pending prospective studies.
Observational
ECG-guided genetic testing efficiently identified a novel KCNH2 mutation in a consanguineous family, highlighting the importance of genetic testing for detecting concealed LQTS.
Al-Senaidi et al. (2014) conducted an observational in Long QT syndrome. ECG-guided genetic testing was evaluated on Genotype-phenotype characteristics and mutation identification. ECG-guided genetic testing in a large Omani family identified a novel homozygous KCNH2 frameshift mutation in a severely affected proband and 14 asymptomatic heterozygous carriers.
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